{"id":2211,"date":"2025-08-18T22:32:54","date_gmt":"2025-08-18T20:32:54","guid":{"rendered":"https:\/\/kleefstrasyndrome.com\/?p=2211"},"modified":"2026-08-20T16:44:26","modified_gmt":"2026-08-20T14:44:26","slug":"greek-study-ehmt1-variants-kleefstra-syndrome","status":"publish","type":"post","link":"https:\/\/kleefstrasyndrome.com\/en\/greek-study-ehmt1-variants-kleefstra-syndrome\/","title":{"rendered":"Greek study describes two new genetic mutations of EHMT1 and highlights the broad spectrum of Kleefstra syndrome"},"content":{"rendered":"\n<div class=\"wp-block-group\"><div class=\"wp-block-group__inner-container is-layout-constrained wp-block-group-is-layout-constrained\">\n<p class=\"wp-block-paragraph\">\u0394\u03cd\u03bf \u03c0\u03b1\u03b9\u03b4\u03b9\u03ac \u03bc\u03b5 \u03c4\u03b7\u03bd \u03af\u03b4\u03b9\u03b1 \u03b4\u03b9\u03ac\u03b3\u03bd\u03c9\u03c3\u03b7 \u03bc\u03c0\u03bf\u03c1\u03b5\u03af \u03bd\u03b1 \u03ad\u03c7\u03bf\u03c5\u03bd \u03c0\u03bf\u03bb\u03cd \u03b4\u03b9\u03b1\u03c6\u03bf\u03c1\u03b5\u03c4\u03b9\u03ba\u03ae \u03c0\u03bf\u03c1\u03b5\u03af\u03b1. \u03a3\u03c4\u03bf \u03c3\u03cd\u03bd\u03b4\u03c1\u03bf\u03bc\u03bf Kleefstra \u03b1\u03c5\u03c4\u03cc \u03b5\u03af\u03bd\u03b1\u03b9 \u03ba\u03ac\u03c4\u03b9 \u03c0\u03bf\u03c5 \u03bf\u03b9 \u03bf\u03b9\u03ba\u03bf\u03b3\u03ad\u03bd\u03b5\u03b9\u03b5\u03c2 \u03b3\u03bd\u03c9\u03c1\u03af\u03b6\u03bf\u03c5\u03bd \u03ba\u03b1\u03bb\u03ac \u03c3\u03c4\u03b7\u03bd \u03c0\u03c1\u03ac\u03be\u03b7, \u03b1\u03bb\u03bb\u03ac \u03b7 \u03c3\u03cd\u03b3\u03c7\u03c1\u03bf\u03bd\u03b7 \u03b3\u03b5\u03bd\u03b5\u03c4\u03b9\u03ba\u03ae \u03ad\u03c1\u03b5\u03c5\u03bd\u03b1 \u03b1\u03c1\u03c7\u03af\u03b6\u03b5\u03b9 \u03c0\u03bb\u03ad\u03bf\u03bd \u03bd\u03b1 \u03bc\u03b1\u03c2 \u03b2\u03bf\u03b7\u03b8\u03ac \u03bd\u03b1 \u03ba\u03b1\u03c4\u03b1\u03bd\u03bf\u03ae\u03c3\u03bf\u03c5\u03bc\u03b5 \u03ba\u03b1\u03bb\u03cd\u03c4\u03b5\u03c1\u03b1 \u03ba\u03b1\u03b9 \u03c4\u03bf\u03c5\u03c2 \u03bc\u03bf\u03c1\u03b9\u03b1\u03ba\u03bf\u03cd\u03c2 \u03bb\u03cc\u03b3\u03bf\u03c5\u03c2 \u03c0\u03bf\u03c5 \u03bc\u03c0\u03bf\u03c1\u03b5\u03af \u03bd\u03b1 \u03b2\u03c1\u03af\u03c3\u03ba\u03bf\u03bd\u03c4\u03b1\u03b9 \u03c0\u03af\u03c3\u03c9 \u03b1\u03c0\u03cc \u03b1\u03c5\u03c4\u03ae \u03c4\u03b7 \u03bc\u03b5\u03b3\u03ac\u03bb\u03b7 \u03bc\u03b5\u03c4\u03b1\u03b2\u03bb\u03b7\u03c4\u03cc\u03c4\u03b7\u03c4\u03b1.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\u039c\u03b9\u03b1 <strong>\u03b5\u03bb\u03bb\u03b7\u03bd\u03b9\u03ba\u03ae \u03bc\u03b5\u03bb\u03ad\u03c4\u03b7<\/strong>, \u03c0\u03bf\u03c5 \u03b4\u03b7\u03bc\u03bf\u03c3\u03b9\u03b5\u03cd\u03b8\u03b7\u03ba\u03b5 \u03c3\u03c4\u03b9\u03c2 29 \u0391\u03c0\u03c1\u03b9\u03bb\u03af\u03bf\u03c5 2025 \u03c3\u03c4\u03bf \u03b5\u03c0\u03b9\u03c3\u03c4\u03b7\u03bc\u03bf\u03bd\u03b9\u03ba\u03cc \u03c0\u03b5\u03c1\u03b9\u03bf\u03b4\u03b9\u03ba\u03cc <em>Genes<\/em>, \u03c0\u03b5\u03c1\u03b9\u03b3\u03c1\u03ac\u03c6\u03b5\u03b9 \u03b4\u03cd\u03bf \u03b1\u03b3\u03cc\u03c1\u03b9\u03b1 \u03b5\u03bb\u03bb\u03b7\u03bd\u03b9\u03ba\u03ae\u03c2 \u03ba\u03b1\u03c4\u03b1\u03b3\u03c9\u03b3\u03ae\u03c2 \u03bc\u03b5 \u03c3\u03cd\u03bd\u03b4\u03c1\u03bf\u03bc\u03bf Kleefstra \u03c4\u03cd\u03c0\u03bf\u03c5 1 (KLEFS1), \u03c3\u03c4\u03b1 \u03bf\u03c0\u03bf\u03af\u03b1 \u03b5\u03bd\u03c4\u03bf\u03c0\u03af\u03c3\u03c4\u03b7\u03ba\u03b1\u03bd <strong>\u03b4\u03cd\u03bf \u03bd\u03ad\u03b5\u03c2, de novo \u03c0\u03b1\u03b8\u03bf\u03b3\u03cc\u03bd\u03b5\u03c2 \u03bc\u03b5\u03c4\u03b1\u03b2\u03bf\u03bb\u03ad\u03c2 \u03c3\u03c4\u03bf \u03b3\u03bf\u03bd\u03af\u03b4\u03b9\u03bf EHMT1<\/strong>. \u03a4\u03bf \u03ad\u03bd\u03b1 \u03c0\u03b1\u03b9\u03b4\u03af \u03ad\u03c6\u03b5\u03c1\u03b5 \u03bc\u03b9\u03b1 \u03bd\u03ad\u03b1 frameshift \u03c0\u03b1\u03c1\u03b1\u03bb\u03bb\u03b1\u03b3\u03ae, \u03b5\u03bd\u03ce \u03c3\u03c4\u03bf \u03b4\u03b5\u03cd\u03c4\u03b5\u03c1\u03bf \u03b5\u03bd\u03c4\u03bf\u03c0\u03af\u03c3\u03c4\u03b7\u03ba\u03b5 \u03bc\u03b9\u03b1 \u03b5\u03be\u03b1\u03b9\u03c1\u03b5\u03c4\u03b9\u03ba\u03ac \u03bc\u03b9\u03ba\u03c1\u03ae \u03bc\u03b5\u03c1\u03b9\u03ba\u03ae \u03b4\u03b9\u03b1\u03b3\u03c1\u03b1\u03c6\u03ae \u03c4\u03bf\u03c5 EHMT1, \u03bc\u03b5\u03b3\u03ad\u03b8\u03bf\u03c5\u03c2 \u03bc\u03cc\u03bb\u03b9\u03c2 11 kb. \u039f\u03b9 \u03b4\u03cd\u03bf \u03c0\u03b5\u03c1\u03b9\u03c0\u03c4\u03ce\u03c3\u03b5\u03b9\u03c2 \u03c0\u03b1\u03c1\u03bf\u03c5\u03c3\u03af\u03b1\u03b6\u03b1\u03bd \u03b1\u03b9\u03c3\u03b8\u03b7\u03c4\u03ad\u03c2 \u03b4\u03b9\u03b1\u03c6\u03bf\u03c1\u03ad\u03c2 \u03c9\u03c2 \u03c0\u03c1\u03bf\u03c2 \u03c4\u03b7 \u03b2\u03b1\u03c1\u03cd\u03c4\u03b7\u03c4\u03b1 \u03c4\u03b7\u03c2 \u03bd\u03b5\u03c5\u03c1\u03bf\u03b1\u03bd\u03b1\u03c0\u03c4\u03c5\u03be\u03b9\u03b1\u03ba\u03ae\u03c2 \u03b5\u03b9\u03ba\u03cc\u03bd\u03b1\u03c2.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\u0397 \u03b5\u03c1\u03b3\u03b1\u03c3\u03af\u03b1 \u03c0\u03c1\u03b1\u03b3\u03bc\u03b1\u03c4\u03bf\u03c0\u03bf\u03b9\u03ae\u03b8\u03b7\u03ba\u03b5 \u03b1\u03c0\u03cc \u03b5\u03c1\u03b5\u03c5\u03bd\u03b7\u03c4\u03ad\u03c2 \u03ba\u03b1\u03b9 \u03ba\u03bb\u03b9\u03bd\u03b9\u03ba\u03bf\u03cd\u03c2 \u03c4\u03bf\u03c5 <strong>\u0395\u03b8\u03bd\u03b9\u03ba\u03bf\u03cd \u03ba\u03b1\u03b9 \u039a\u03b1\u03c0\u03bf\u03b4\u03b9\u03c3\u03c4\u03c1\u03b9\u03b1\u03ba\u03bf\u03cd \u03a0\u03b1\u03bd\u03b5\u03c0\u03b9\u03c3\u03c4\u03b7\u03bc\u03af\u03bf\u03c5 \u0391\u03b8\u03b7\u03bd\u03ce\u03bd, \u03c4\u03bf\u03c5 \u03a0\u03b1\u03bd\u03b5\u03c0\u03b9\u03c3\u03c4\u03b7\u03bc\u03af\u03bf\u03c5 \u0398\u03b5\u03c3\u03c3\u03b1\u03bb\u03af\u03b1\u03c2, \u03c4\u03bf\u03c5 \u03a0\u03b1\u03bd\u03b5\u03c0\u03b9\u03c3\u03c4\u03b7\u03bc\u03b9\u03b1\u03ba\u03bf\u03cd \u039d\u03bf\u03c3\u03bf\u03ba\u03bf\u03bc\u03b5\u03af\u03bf\u03c5 \u039b\u03ac\u03c1\u03b9\u03c3\u03b1\u03c2, \u03c4\u03bf\u03c5 \u039d\u03bf\u03c3\u03bf\u03ba\u03bf\u03bc\u03b5\u03af\u03bf\u03c5 \u03a0\u03b1\u03af\u03b4\u03c9\u03bd \u00ab\u0397 \u0391\u03b3\u03af\u03b1 \u03a3\u03bf\u03c6\u03af\u03b1\u00bb \u03ba\u03b1\u03b9 \u03c4\u03bf\u03c5 \u03b5\u03c1\u03b3\u03b1\u03c3\u03c4\u03b7\u03c1\u03af\u03bf\u03c5 GeneTech Analytics<\/strong>. \u03a0\u03c1\u03ce\u03c4\u03b7 \u03c3\u03c5\u03b3\u03b3\u03c1\u03b1\u03c6\u03ad\u03b1\u03c2 \u03b5\u03af\u03bd\u03b1\u03b9 \u03b7 \u039c\u03b1\u03c1\u03af\u03b1 \u03a4\u03b6\u03ad\u03c4\u03b7 \u03ba\u03b1\u03b9 \u03c4\u03b5\u03bb\u03b5\u03c5\u03c4\u03b1\u03af\u03b1\/\u03b1\u03bd\u03c4\u03af\u03c3\u03c4\u03bf\u03b9\u03c7\u03b7 \u03c3\u03c5\u03b3\u03b3\u03c1\u03b1\u03c6\u03ad\u03b1\u03c2 \u03b7 \u0391\u03c3\u03c0\u03b1\u03c3\u03af\u03b1 \u03a4\u03c3\u03b5\u03b6\u03bf\u03cd.<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u0394\u03cd\u03bf \u03c0\u03b1\u03b9\u03b4\u03b9\u03ac, \u03b7 \u03af\u03b4\u03b9\u03b1 \u03b4\u03b9\u03ac\u03b3\u03bd\u03c9\u03c3\u03b7, \u03b1\u03bb\u03bb\u03ac \u03b4\u03b9\u03b1\u03c6\u03bf\u03c1\u03b5\u03c4\u03b9\u03ba\u03ae \u03ba\u03bb\u03b9\u03bd\u03b9\u03ba\u03ae \u03b5\u03b9\u03ba\u03cc\u03bd\u03b1<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">\u03a4\u03bf \u03c0\u03c1\u03ce\u03c4\u03bf \u03c0\u03b1\u03b9\u03b4\u03af \u03ae\u03c4\u03b1\u03bd <strong>7 \u03b5\u03c4\u03ce\u03bd<\/strong> \u03ba\u03b1\u03c4\u03ac \u03c4\u03b7\u03bd \u03c0\u03b5\u03c1\u03b9\u03b3\u03c1\u03b1\u03c6\u03ae \u03c4\u03b7\u03c2 \u03bc\u03b5\u03bb\u03ad\u03c4\u03b7\u03c2. \u0395\u03af\u03c7\u03b5 \u03b3\u03b5\u03bd\u03bd\u03b7\u03b8\u03b5\u03af \u03c0\u03c1\u03cc\u03c9\u03c1\u03b1 \u03c3\u03c4\u03b9\u03c2 35 \u03b5\u03b2\u03b4\u03bf\u03bc\u03ac\u03b4\u03b5\u03c2 \u03ba\u03b1\u03b9 \u03ae\u03b4\u03b7 \u03b1\u03c0\u03cc \u03c4\u03b1 \u03c0\u03c1\u03ce\u03c4\u03b1 \u03c7\u03c1\u03cc\u03bd\u03b9\u03b1 \u03c4\u03b7\u03c2 \u03b6\u03c9\u03ae\u03c2 \u03c4\u03bf\u03c5 \u03c0\u03b1\u03c1\u03bf\u03c5\u03c3\u03af\u03b1\u03b6\u03b5 \u03ba\u03b1\u03b8\u03c5\u03c3\u03c4\u03ad\u03c1\u03b7\u03c3\u03b7 \u03c3\u03c4\u03b7\u03bd \u03c8\u03c5\u03c7\u03bf\u03ba\u03b9\u03bd\u03b7\u03c4\u03b9\u03ba\u03ae \u03b1\u03bd\u03ac\u03c0\u03c4\u03c5\u03be\u03b7. \u0391\u03c0\u03ad\u03ba\u03c4\u03b7\u03c3\u03b5 \u03ad\u03bb\u03b5\u03b3\u03c7\u03bf \u03ba\u03b5\u03c6\u03b1\u03bb\u03ae\u03c2 \u03c0\u03b5\u03c1\u03af\u03c0\u03bf\u03c5 \u03c3\u03c4\u03bf\u03c5\u03c2 6 \u03bc\u03ae\u03bd\u03b5\u03c2, \u03ba\u03ac\u03b8\u03b9\u03c3\u03b5 \u03c7\u03c9\u03c1\u03af\u03c2 \u03c5\u03c0\u03bf\u03c3\u03c4\u03ae\u03c1\u03b9\u03be\u03b7 \u03c3\u03c4\u03bf\u03c5\u03c2 12 \u03bc\u03ae\u03bd\u03b5\u03c2 \u03ba\u03b1\u03b9 \u03c0\u03b5\u03c1\u03c0\u03ac\u03c4\u03b7\u03c3\u03b5 \u03b1\u03bd\u03b5\u03be\u03ac\u03c1\u03c4\u03b7\u03c4\u03b1 \u03c3\u03c4\u03b7\u03bd \u03b7\u03bb\u03b9\u03ba\u03af\u03b1 \u03c4\u03c9\u03bd 2 \u03b5\u03c4\u03ce\u03bd. \u039f\u03b9 \u03c0\u03c1\u03ce\u03c4\u03b5\u03c2 \u03bb\u03ad\u03be\u03b5\u03b9\u03c2 \u03b5\u03bc\u03c6\u03b1\u03bd\u03af\u03c3\u03c4\u03b7\u03ba\u03b1\u03bd \u03b5\u03c0\u03af\u03c3\u03b7\u03c2 \u03c0\u03b5\u03c1\u03af\u03c0\u03bf\u03c5 \u03c3\u03c4\u03b1 2 \u03ad\u03c4\u03b7 \u03ba\u03b1\u03b9 \u03b1\u03c0\u03bb\u03ad\u03c2 \u03c0\u03c1\u03bf\u03c4\u03ac\u03c3\u03b5\u03b9\u03c2 \u03b3\u03cd\u03c1\u03c9 \u03c3\u03c4\u03b1 4.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\u03a3\u03c4\u03b7\u03bd \u03c0\u03bf\u03c1\u03b5\u03af\u03b1 \u03b4\u03b9\u03b1\u03b3\u03bd\u03ce\u03c3\u03c4\u03b7\u03ba\u03b5 \u03bc\u03b5 <strong>\u03bc\u03ad\u03c4\u03c1\u03b9\u03b1 \u03bd\u03bf\u03b7\u03c4\u03b9\u03ba\u03ae \u03b1\u03bd\u03b1\u03c0\u03b7\u03c1\u03af\u03b1, \u0394\u0395\u03a0\u03a5, \u03b1\u03be\u03bf\u03bd\u03b9\u03ba\u03ae \u03c5\u03c0\u03bf\u03c4\u03bf\u03bd\u03af\u03b1, \u03b4\u03b9\u03b1\u03c4\u03b1\u03c1\u03b1\u03c7\u03ad\u03c2 \u03cd\u03c0\u03bd\u03bf\u03c5 \u03ba\u03b1\u03b9 \u03c3\u03c5\u03c7\u03bd\u03ad\u03c2 \u03b5\u03ba\u03c1\u03ae\u03be\u03b5\u03b9\u03c2 \u03b8\u03c5\u03bc\u03bf\u03cd<\/strong>. \u03a3\u03b5 \u03b7\u03bb\u03b9\u03ba\u03af\u03b1 6 \u03b5\u03c4\u03ce\u03bd \u03b5\u03bc\u03c6\u03ac\u03bd\u03b9\u03c3\u03b5 \u03b5\u03c3\u03c4\u03b9\u03b1\u03ba\u03ad\u03c2 \u03b5\u03c0\u03b9\u03bb\u03b7\u03c0\u03c4\u03b9\u03ba\u03ad\u03c2 \u03ba\u03c1\u03af\u03c3\u03b5\u03b9\u03c2. \u03a4\u03bf EEG \u03ba\u03b1\u03c4\u03ad\u03b3\u03c1\u03b1\u03c8\u03b5 \u03b5\u03c0\u03b9\u03bb\u03b7\u03c0\u03c4\u03b9\u03ba\u03ae \u03b4\u03c1\u03b1\u03c3\u03c4\u03b7\u03c1\u03b9\u03cc\u03c4\u03b7\u03c4\u03b1 \u03c3\u03c4\u03b7\u03bd \u03b1\u03c1\u03b9\u03c3\u03c4\u03b5\u03c1\u03ae \u03ba\u03c1\u03bf\u03c4\u03b1\u03c6\u03bf\u03ca\u03bd\u03b9\u03b1\u03ba\u03ae \u03c0\u03b5\u03c1\u03b9\u03bf\u03c7\u03ae \u03bc\u03b5 \u03b3\u03b5\u03bd\u03af\u03ba\u03b5\u03c5\u03c3\u03b7 \u03ba\u03b1\u03b9 \u03c7\u03bf\u03c1\u03b7\u03b3\u03ae\u03b8\u03b7\u03ba\u03b5 \u03bf\u03be\u03ba\u03b1\u03c1\u03b2\u03b1\u03b6\u03b5\u03c0\u03af\u03bd\u03b7, \u03bc\u03b5 \u03ba\u03b1\u03bb\u03ae \u03b1\u03bd\u03c4\u03b1\u03c0\u03cc\u03ba\u03c1\u03b9\u03c3\u03b7 \u03bc\u03ad\u03c7\u03c1\u03b9 \u03c4\u03b7 \u03b4\u03b7\u03bc\u03bf\u03c3\u03af\u03b5\u03c5\u03c3\u03b7 \u03c4\u03b7\u03c2 \u03b5\u03c1\u03b3\u03b1\u03c3\u03af\u03b1\u03c2. \u0395\u03af\u03c7\u03b5 \u03b5\u03c0\u03af\u03c3\u03b7\u03c2 \u03c0\u03b1\u03c1\u03bf\u03c5\u03c3\u03b9\u03b1\u03c3\u03c4\u03b5\u03af \u03bc\u03b9\u03ba\u03c1\u03cc \u03ad\u03bb\u03bb\u03b5\u03b9\u03bc\u03bc\u03b1 \u03bc\u03b5\u03c3\u03bf\u03ba\u03bf\u03b9\u03bb\u03b9\u03b1\u03ba\u03bf\u03cd \u03b4\u03b9\u03b1\u03c6\u03c1\u03ac\u03b3\u03bc\u03b1\u03c4\u03bf\u03c2 \u03c3\u03c4\u03b7 \u03bd\u03b5\u03bf\u03b3\u03bd\u03b9\u03ba\u03ae \u03c0\u03b5\u03c1\u03af\u03bf\u03b4\u03bf, \u03c4\u03bf \u03bf\u03c0\u03bf\u03af\u03bf \u03c3\u03c4\u03b7 \u03c3\u03c5\u03bd\u03ad\u03c7\u03b5\u03b9\u03b1 \u03ad\u03ba\u03bb\u03b5\u03b9\u03c3\u03b5 \u03c0\u03bb\u03ae\u03c1\u03c9\u03c2.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\u03a3\u03c4\u03bf \u03c0\u03b1\u03b9\u03b4\u03af \u03b1\u03c5\u03c4\u03cc \u03b7 <strong>\u03b1\u03bb\u03bb\u03b7\u03bb\u03bf\u03cd\u03c7\u03b9\u03c3\u03b7 \u03b5\u03be\u03ce\u03bc\u03b1\u03c4\u03bf\u03c2 (exome sequencing)<\/strong> \u03b1\u03c0\u03bf\u03ba\u03ac\u03bb\u03c5\u03c8\u03b5 \u03bc\u03b9\u03b1 \u03bd\u03ad\u03b1 \u03b5\u03c4\u03b5\u03c1\u03cc\u03b6\u03c5\u03b3\u03b7 frameshift \u03c0\u03b1\u03c1\u03b1\u03bb\u03bb\u03b1\u03b3\u03ae \u03c3\u03c4\u03bf <em>EHMT1<\/em>:<\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>c.2075-2097del, p.(Val692Glyfs*64).<\/strong><\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\u0397 \u03bc\u03b5\u03c4\u03b1\u03b2\u03bf\u03bb\u03ae \u03b2\u03c1\u03af\u03c3\u03ba\u03b5\u03c4\u03b1\u03b9 \u03c3\u03c4\u03bf \u03b5\u03be\u03cc\u03bd\u03b9\u03bf 13 \u03ba\u03b1\u03b9 \u03b1\u03bb\u03bb\u03ac\u03b6\u03b5\u03b9 \u03c4\u03bf \u03c0\u03bb\u03b1\u03af\u03c3\u03b9\u03bf \u03b1\u03bd\u03ac\u03b3\u03bd\u03c9\u03c3\u03b7\u03c2 \u03c4\u03bf\u03c5 \u03b3\u03bf\u03bd\u03b9\u03b4\u03af\u03bf\u03c5, \u03bf\u03b4\u03b7\u03b3\u03ce\u03bd\u03c4\u03b1\u03c2 \u03c3\u03b5 \u03c0\u03c1\u03cc\u03c9\u03c1\u03bf \u03c4\u03b5\u03c1\u03bc\u03b1\u03c4\u03b9\u03c3\u03bc\u03cc \u03c4\u03b7\u03c2 \u03c0\u03c1\u03c9\u03c4\u03b5\u0390\u03bd\u03b7\u03c2. \u0397 \u03c0\u03b1\u03b8\u03bf\u03bb\u03bf\u03b3\u03b9\u03ba\u03ae \u03b1\u03c5\u03c4\u03ae \u03c0\u03c1\u03c9\u03c4\u03b5\u0390\u03bd\u03b7 \u03c0\u03c1\u03bf\u03b2\u03bb\u03ad\u03c0\u03b5\u03c4\u03b1\u03b9 \u03cc\u03c4\u03b9 \u03c3\u03c4\u03b5\u03c1\u03b5\u03af\u03c4\u03b1\u03b9 \u03c3\u03b7\u03bc\u03b1\u03bd\u03c4\u03b9\u03ba\u03ce\u03bd \u03c0\u03b5\u03c1\u03b9\u03bf\u03c7\u03ce\u03bd \u03c4\u03bf\u03c5 C-\u03c4\u03b5\u03bb\u03b9\u03ba\u03bf\u03cd \u03ac\u03ba\u03c1\u03bf\u03c5, \u03bc\u03b5\u03c4\u03b1\u03be\u03cd \u03c4\u03c9\u03bd \u03bf\u03c0\u03bf\u03af\u03c9\u03bd \u03bf\u03b9 \u03c0\u03b5\u03c1\u03b9\u03bf\u03c7\u03ad\u03c2 <strong>ANKR \u03ba\u03b1\u03b9 SET<\/strong>, \u03bf\u03b9 \u03bf\u03c0\u03bf\u03af\u03b5\u03c2 \u03ad\u03c7\u03bf\u03c5\u03bd \u03ba\u03b5\u03bd\u03c4\u03c1\u03b9\u03ba\u03cc \u03c1\u03cc\u03bb\u03bf \u03c3\u03c4\u03b7 \u03bb\u03b5\u03b9\u03c4\u03bf\u03c5\u03c1\u03b3\u03af\u03b1 \u03c4\u03bf\u03c5 EHMT1. \u0397 \u03b5\u03be\u03ad\u03c4\u03b1\u03c3\u03b7 \u03c4\u03c9\u03bd \u03b3\u03bf\u03bd\u03ad\u03c9\u03bd \u03bc\u03b5 Sanger sequencing \u03ad\u03b4\u03b5\u03b9\u03be\u03b5 \u03cc\u03c4\u03b9 \u03b7 \u03c0\u03b1\u03c1\u03b1\u03bb\u03bb\u03b1\u03b3\u03ae \u03ae\u03c4\u03b1\u03bd <strong>de novo<\/strong>, \u03b4\u03b7\u03bb\u03b1\u03b4\u03ae \u03b4\u03b5\u03bd \u03b1\u03bd\u03b9\u03c7\u03bd\u03b5\u03cd\u03b8\u03b7\u03ba\u03b5 \u03c3\u03b5 \u03ba\u03b1\u03bd\u03ad\u03bd\u03b1\u03bd \u03b1\u03c0\u03cc \u03c4\u03bf\u03c5\u03c2 \u03b4\u03cd\u03bf \u03b3\u03bf\u03bd\u03b5\u03af\u03c2.<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u0397 \u03bc\u03b9\u03ba\u03c1\u03cc\u03c4\u03b5\u03c1\u03b7 \u03bc\u03b5\u03c1\u03b9\u03ba\u03ae \u03b4\u03b9\u03b1\u03b3\u03c1\u03b1\u03c6\u03ae \u03c4\u03bf\u03c5 EHMT1 \u03c0\u03bf\u03c5 \u03b5\u03af\u03c7\u03b5 \u03c0\u03b5\u03c1\u03b9\u03b3\u03c1\u03b1\u03c6\u03b5\u03af \u03bc\u03ad\u03c7\u03c1\u03b9 \u03c4\u03cc\u03c4\u03b5<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">\u0397 \u03b4\u03b5\u03cd\u03c4\u03b5\u03c1\u03b7 \u03c0\u03b5\u03c1\u03af\u03c0\u03c4\u03c9\u03c3\u03b7 \u03c0\u03b1\u03c1\u03bf\u03c5\u03c3\u03b9\u03ac\u03b6\u03b5\u03b9 \u03b9\u03b4\u03b9\u03b1\u03af\u03c4\u03b5\u03c1\u03bf \u03b3\u03b5\u03bd\u03b5\u03c4\u03b9\u03ba\u03cc \u03b5\u03bd\u03b4\u03b9\u03b1\u03c6\u03ad\u03c1\u03bf\u03bd.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\u03a4\u03bf \u03b4\u03b5\u03cd\u03c4\u03b5\u03c1\u03bf \u03c0\u03b1\u03b9\u03b4\u03af \u03ae\u03c4\u03b1\u03bd <strong>9 \u03b5\u03c4\u03ce\u03bd<\/strong>. \u0395\u03af\u03c7\u03b5 \u03b5\u03c0\u03af\u03c3\u03b7\u03c2 \u03ba\u03b1\u03b8\u03c5\u03c3\u03c4\u03ad\u03c1\u03b7\u03c3\u03b7 \u03c3\u03c4\u03b7\u03bd \u03b1\u03bd\u03ac\u03c0\u03c4\u03c5\u03be\u03b7, \u03b1\u03bb\u03bb\u03ac \u03b7 \u03c3\u03c5\u03bd\u03bf\u03bb\u03b9\u03ba\u03ae \u03c4\u03bf\u03c5 \u03b5\u03b9\u03ba\u03cc\u03bd\u03b1 \u03ae\u03c4\u03b1\u03bd \u03b1\u03b9\u03c3\u03b8\u03b7\u03c4\u03ac \u03b7\u03c0\u03b9\u03cc\u03c4\u03b5\u03c1\u03b7. \u0391\u03c0\u03ad\u03ba\u03c4\u03b7\u03c3\u03b5 \u03ad\u03bb\u03b5\u03b3\u03c7\u03bf \u03ba\u03b5\u03c6\u03b1\u03bb\u03ae\u03c2 \u03c3\u03c4\u03bf\u03c5\u03c2 6 \u03bc\u03ae\u03bd\u03b5\u03c2, \u03ba\u03ac\u03b8\u03b9\u03c3\u03b5 \u03c3\u03c4\u03bf\u03c5\u03c2 10 \u03bc\u03ae\u03bd\u03b5\u03c2, \u03c0\u03b5\u03c1\u03c0\u03ac\u03c4\u03b7\u03c3\u03b5 \u03b1\u03bd\u03b5\u03be\u03ac\u03c1\u03c4\u03b7\u03c4\u03b1 \u03c3\u03c4\u03bf\u03c5\u03c2 22 \u03bc\u03ae\u03bd\u03b5\u03c2 \u03ba\u03b1\u03b9 \u03b5\u03af\u03c0\u03b5 \u03c4\u03b9\u03c2 \u03c0\u03c1\u03ce\u03c4\u03b5\u03c2 \u03bb\u03ad\u03be\u03b5\u03b9\u03c2 \u03c0\u03b5\u03c1\u03af\u03c0\u03bf\u03c5 \u03c3\u03c4\u03b7\u03bd \u03b7\u03bb\u03b9\u03ba\u03af\u03b1 \u03c4\u03c9\u03bd 3 \u03b5\u03c4\u03ce\u03bd.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\u03a3\u03c4\u03b7\u03bd \u03b7\u03bb\u03b9\u03ba\u03af\u03b1 \u03c4\u03c9\u03bd 5 \u03b5\u03c4\u03ce\u03bd \u03b5\u03af\u03c7\u03b5 \u03b4\u03b9\u03b1\u03b3\u03bd\u03c9\u03c3\u03c4\u03b5\u03af \u03bc\u03b5 <strong>\u03ae\u03c0\u03b9\u03b1 \u03bd\u03bf\u03b7\u03c4\u03b9\u03ba\u03ae \u03b1\u03bd\u03b1\u03c0\u03b7\u03c1\u03af\u03b1, \u0394\u0395\u03a0\u03a5 \u03ba\u03b1\u03b9 \u03b1\u03be\u03bf\u03bd\u03b9\u03ba\u03ae \u03c5\u03c0\u03bf\u03c4\u03bf\u03bd\u03af\u03b1<\/strong>. \u03a0\u03b1\u03c1\u03ac \u03c4\u03b9\u03c2 \u03bc\u03b1\u03b8\u03b7\u03c3\u03b9\u03b1\u03ba\u03ad\u03c2 \u03ba\u03b1\u03b9 \u03b9\u03b4\u03b9\u03b1\u03af\u03c4\u03b5\u03c1\u03b1 \u03c4\u03b9\u03c2 \u03b3\u03bb\u03c9\u03c3\u03c3\u03b9\u03ba\u03ad\u03c2 \u03b4\u03c5\u03c3\u03ba\u03bf\u03bb\u03af\u03b5\u03c2, \u03b1\u03ba\u03bf\u03bb\u03bf\u03c5\u03b8\u03bf\u03cd\u03c3\u03b5 \u03c4\u03bf \u03c0\u03c1\u03cc\u03b3\u03c1\u03b1\u03bc\u03bc\u03b1 \u03b3\u03b5\u03bd\u03b9\u03ba\u03bf\u03cd \u03c3\u03c7\u03bf\u03bb\u03b5\u03af\u03bf\u03c5 \u03bc\u03b5 \u03c0\u03c1\u03cc\u03c3\u03b8\u03b5\u03c4\u03b7 \u03b5\u03ba\u03c0\u03b1\u03b9\u03b4\u03b5\u03c5\u03c4\u03b9\u03ba\u03ae \u03c5\u03c0\u03bf\u03c3\u03c4\u03ae\u03c1\u03b9\u03be\u03b7.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\u039f \u03b1\u03c1\u03c7\u03b9\u03ba\u03cc\u03c2 \u03ba\u03b1\u03c1\u03c5\u03cc\u03c4\u03c5\u03c0\u03bf\u03c2 \u03ba\u03b1\u03b9 \u03bf \u03ad\u03bb\u03b5\u03b3\u03c7\u03bf\u03c2 \u03b3\u03b9\u03b1 Fragile X \u03ae\u03c4\u03b1\u03bd \u03c6\u03c5\u03c3\u03b9\u03bf\u03bb\u03bf\u03b3\u03b9\u03ba\u03bf\u03af. \u0397 \u03b4\u03b9\u03ac\u03b3\u03bd\u03c9\u03c3\u03b7 \u03c0\u03c1\u03bf\u03ad\u03ba\u03c5\u03c8\u03b5 \u03cc\u03c4\u03b1\u03bd \u03c0\u03c1\u03b1\u03b3\u03bc\u03b1\u03c4\u03bf\u03c0\u03bf\u03b9\u03ae\u03b8\u03b7\u03ba\u03b5 <strong>chromosomal microarray analysis (CMA)<\/strong>, \u03b7 \u03bf\u03c0\u03bf\u03af\u03b1 \u03b1\u03c0\u03bf\u03ba\u03ac\u03bb\u03c5\u03c8\u03b5 \u03bc\u03b9\u03b1 \u03bd\u03ad\u03b1 <strong>\u03b4\u03b9\u03b1\u03b3\u03c1\u03b1\u03c6\u03ae \u03bc\u03cc\u03bb\u03b9\u03c2 11 kb \u03bc\u03ad\u03c3\u03b1 \u03c3\u03c4\u03bf \u03af\u03b4\u03b9\u03bf \u03c4\u03bf EHMT1<\/strong>, \u03c0\u03bf\u03c5 \u03c0\u03b5\u03c1\u03b9\u03bb\u03ac\u03bc\u03b2\u03b1\u03bd\u03b5 \u03c4\u03b1 \u03b5\u03be\u03cc\u03bd\u03b9\u03b1 19 \u03ad\u03c9\u03c2 25:<\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>arr[GRCh37] 9q34.3(140703393-140714454)x1.<\/strong><\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\u039f\u03b9 \u03b3\u03bf\u03bd\u03b5\u03af\u03c2 \u03b5\u03be\u03b5\u03c4\u03ac\u03c3\u03c4\u03b7\u03ba\u03b1\u03bd \u03b5\u03c0\u03af\u03c3\u03b7\u03c2 \u03ba\u03b1\u03b9 \u03b7 \u03b4\u03b9\u03b1\u03b3\u03c1\u03b1\u03c6\u03ae \u03b1\u03c0\u03bf\u03b4\u03b5\u03af\u03c7\u03b8\u03b7\u03ba\u03b5 de novo.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\u03a3\u03cd\u03bc\u03c6\u03c9\u03bd\u03b1 \u03bc\u03b5 \u03c4\u03bf\u03c5\u03c2 \u03c3\u03c5\u03b3\u03b3\u03c1\u03b1\u03c6\u03b5\u03af\u03c2, \u03b1\u03c5\u03c4\u03ae \u03ae\u03c4\u03b1\u03bd <strong>\u03b7 \u03bc\u03b9\u03ba\u03c1\u03cc\u03c4\u03b5\u03c1\u03b7 \u03bc\u03b5\u03c1\u03b9\u03ba\u03ae \u03b4\u03b9\u03b1\u03b3\u03c1\u03b1\u03c6\u03ae \u03c4\u03bf\u03c5 EHMT1 \u03c0\u03bf\u03c5 \u03b5\u03af\u03c7\u03b5 \u03bc\u03ad\u03c7\u03c1\u03b9 \u03c4\u03cc\u03c4\u03b5 \u03b5\u03bd\u03c4\u03bf\u03c0\u03b9\u03c3\u03c4\u03b5\u03af \u03bc\u03b5 chromosomal microarray<\/strong>. \u039a\u03b1\u03b9 \u03b1\u03c5\u03c4\u03cc \u03ad\u03c7\u03b5\u03b9 \u03b5\u03bd\u03b4\u03b9\u03b1\u03c6\u03ad\u03c1\u03bf\u03bd \u03cc\u03c7\u03b9 \u03bc\u03cc\u03bd\u03bf \u03c9\u03c2 \u03bd\u03ad\u03bf \u03b3\u03b5\u03bd\u03b5\u03c4\u03b9\u03ba\u03cc \u03b5\u03cd\u03c1\u03b7\u03bc\u03b1, \u03b1\u03bb\u03bb\u03ac \u03ba\u03b1\u03b9 \u03b5\u03c0\u03b5\u03b9\u03b4\u03ae \u03b7 \u03b4\u03b9\u03b1\u03b3\u03c1\u03b1\u03c6\u03ae \u03b4\u03b5\u03bd \u03b1\u03c6\u03b1\u03b9\u03c1\u03bf\u03cd\u03c3\u03b5 \u03bf\u03bb\u03cc\u03ba\u03bb\u03b7\u03c1\u03bf \u03c4\u03bf \u03b3\u03bf\u03bd\u03af\u03b4\u03b9\u03bf. \u0395\u03c0\u03b7\u03c1\u03ad\u03b1\u03b6\u03b5 \u03c3\u03c5\u03b3\u03ba\u03b5\u03ba\u03c1\u03b9\u03bc\u03ad\u03bd\u03bf \u03c4\u03bc\u03ae\u03bc\u03b1 \u03c4\u03bf\u03c5 \u03ba\u03b1\u03b9, \u03bc\u03b5\u03c4\u03b1\u03be\u03cd \u03ac\u03bb\u03bb\u03c9\u03bd, \u03c4\u03b7\u03bd \u03ba\u03b1\u03c4\u03b1\u03bb\u03c5\u03c4\u03b9\u03ba\u03ae \u03c0\u03b5\u03c1\u03b9\u03bf\u03c7\u03ae SET.<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u0393\u03b9\u03b1\u03c4\u03af \u03ad\u03c7\u03b5\u03b9 \u03c3\u03b7\u03bc\u03b1\u03c3\u03af\u03b1 \u03c0\u03bf\u03b9\u03bf \u03c4\u03bc\u03ae\u03bc\u03b1 \u03c4\u03bf\u03c5 EHMT1 \u03b5\u03c0\u03b7\u03c1\u03b5\u03ac\u03b6\u03b5\u03c4\u03b1\u03b9<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">\u03a4\u03bf <em>EHMT1<\/em> \u03b4\u03b5\u03bd \u03bb\u03b5\u03b9\u03c4\u03bf\u03c5\u03c1\u03b3\u03b5\u03af \u03c3\u03b1\u03bd \u03ad\u03bd\u03b1\u03c2 \u03b1\u03c0\u03bb\u03cc\u03c2 \u03b4\u03b9\u03b1\u03ba\u03cc\u03c0\u03c4\u03b7\u03c2 \u03c0\u03bf\u03c5 \u03b5\u03af\u03bd\u03b1\u03b9 \u03b5\u03af\u03c4\u03b5 \u00ab\u03b1\u03bd\u03bf\u03b9\u03c7\u03c4\u03cc\u03c2\u00bb \u03b5\u03af\u03c4\u03b5 \u00ab\u03ba\u03bb\u03b5\u03b9\u03c3\u03c4\u03cc\u03c2\u00bb. \u0397 \u03c0\u03c1\u03c9\u03c4\u03b5\u0390\u03bd\u03b7 \u03c0\u03bf\u03c5 \u03c0\u03b1\u03c1\u03ac\u03b3\u03b5\u03b9 \u03b4\u03b9\u03b1\u03b8\u03ad\u03c4\u03b5\u03b9 \u03b4\u03b9\u03b1\u03c6\u03bf\u03c1\u03b5\u03c4\u03b9\u03ba\u03ad\u03c2 \u03bb\u03b5\u03b9\u03c4\u03bf\u03c5\u03c1\u03b3\u03b9\u03ba\u03ad\u03c2 \u03c0\u03b5\u03c1\u03b9\u03bf\u03c7\u03ad\u03c2, \u03bf\u03b9 \u03bf\u03c0\u03bf\u03af\u03b5\u03c2 \u03b5\u03c0\u03b9\u03c4\u03b5\u03bb\u03bf\u03cd\u03bd \u03b4\u03b9\u03b1\u03c6\u03bf\u03c1\u03b5\u03c4\u03b9\u03ba\u03bf\u03cd\u03c2 \u03c1\u03cc\u03bb\u03bf\u03c5\u03c2.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\u0394\u03cd\u03bf \u03b1\u03c0\u03cc \u03c4\u03b9\u03c2 \u03c3\u03b7\u03bc\u03b1\u03bd\u03c4\u03b9\u03ba\u03cc\u03c4\u03b5\u03c1\u03b5\u03c2 \u03b5\u03af\u03bd\u03b1\u03b9 \u03b7 \u03c0\u03b5\u03c1\u03b9\u03bf\u03c7\u03ae <strong>ANKR (ankyrin repeat)<\/strong> \u03ba\u03b1\u03b9 \u03b7 \u03c0\u03b5\u03c1\u03b9\u03bf\u03c7\u03ae <strong>SET<\/strong>. \u03a0\u03bf\u03bb\u03cd \u03b1\u03c0\u03bb\u03bf\u03c5\u03c3\u03c4\u03b5\u03c5\u03bc\u03ad\u03bd\u03b1, \u03b7 ANKR \u03c3\u03c5\u03bc\u03bc\u03b5\u03c4\u03ad\u03c7\u03b5\u03b9 \u03c3\u03c4\u03b7\u03bd \u03b1\u03bd\u03b1\u03b3\u03bd\u03ce\u03c1\u03b9\u03c3\u03b7 \u03c3\u03c5\u03b3\u03ba\u03b5\u03ba\u03c1\u03b9\u03bc\u03ad\u03bd\u03c9\u03bd \u03b5\u03c0\u03b9\u03b3\u03b5\u03bd\u03b5\u03c4\u03b9\u03ba\u03ce\u03bd \u03c3\u03b7\u03bc\u03b1\u03b4\u03b9\u03ce\u03bd \u03c3\u03c4\u03b9\u03c2 \u03b9\u03c3\u03c4\u03cc\u03bd\u03b5\u03c2 (\u03bb\u03b5\u03b9\u03c4\u03bf\u03c5\u03c1\u03b3\u03af\u03b1 \u03c0\u03bf\u03c5 \u03c3\u03c4\u03b7 \u03b2\u03b9\u03b2\u03bb\u03b9\u03bf\u03b3\u03c1\u03b1\u03c6\u03af\u03b1 \u03c3\u03c5\u03c7\u03bd\u03ac \u03c0\u03b5\u03c1\u03b9\u03b3\u03c1\u03ac\u03c6\u03b5\u03c4\u03b1\u03b9 \u03c9\u03c2 <em>reader function<\/em>) \u03b5\u03bd\u03ce \u03b7 SET \u03b5\u03af\u03bd\u03b1\u03b9 \u03b7 \u03ba\u03b1\u03c4\u03b1\u03bb\u03c5\u03c4\u03b9\u03ba\u03ae \u03c0\u03b5\u03c1\u03b9\u03bf\u03c7\u03ae \u03c0\u03bf\u03c5 \u03c3\u03c5\u03bc\u03bc\u03b5\u03c4\u03ad\u03c7\u03b5\u03b9 \u03c3\u03c4\u03b7 \u03b4\u03c1\u03b1\u03c3\u03c4\u03b7\u03c1\u03b9\u03cc\u03c4\u03b7\u03c4\u03b1 \u03c4\u03b7\u03c2 \u03bc\u03b5\u03b8\u03c5\u03bb\u03bf\u03c4\u03c1\u03b1\u03bd\u03c3\u03c6\u03b5\u03c1\u03ac\u03c3\u03b7\u03c2, \u03c4\u03b7 \u03bb\u03b5\u03b3\u03cc\u03bc\u03b5\u03bd\u03b7 <em>writer function<\/em>.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\u03a3\u03c4\u03bf \u03c0\u03c1\u03ce\u03c4\u03bf \u03b5\u03bb\u03bb\u03b7\u03bd\u03b9\u03ba\u03cc \u03c0\u03b5\u03c1\u03b9\u03c3\u03c4\u03b1\u03c4\u03b9\u03ba\u03cc, \u03b7 frameshift \u03c0\u03b1\u03c1\u03b1\u03bb\u03bb\u03b1\u03b3\u03ae \u03b1\u03bd\u03b1\u03bc\u03ad\u03bd\u03b5\u03c4\u03b1\u03b9 \u03bd\u03b1 \u03bf\u03b4\u03b7\u03b3\u03ae\u03c3\u03b5\u03b9 \u03c3\u03b5 \u03b1\u03c0\u03ce\u03bb\u03b5\u03b9\u03b1 \u03c4\u03cc\u03c3\u03bf \u03c4\u03b7\u03c2 ANKR \u03cc\u03c3\u03bf \u03ba\u03b1\u03b9 \u03c4\u03b7\u03c2 SET \u03c0\u03b5\u03c1\u03b9\u03bf\u03c7\u03ae\u03c2 \u03ba\u03b1\u03b9 \u03c3\u03b5 \u03bb\u03b5\u03b9\u03c4\u03bf\u03c5\u03c1\u03b3\u03b9\u03ba\u03ae \u03b1\u03bd\u03b5\u03c0\u03ac\u03c1\u03ba\u03b5\u03b9\u03b1 \u03c4\u03bf\u03c5 EHMT1. \u03a4\u03bf \u03c0\u03b1\u03b9\u03b4\u03af \u03c0\u03b1\u03c1\u03bf\u03c5\u03c3\u03af\u03b1\u03b6\u03b5 \u03ba\u03b1\u03b9 \u03c4\u03b7\u03bd \u03c0\u03b5\u03c1\u03b9\u03c3\u03c3\u03cc\u03c4\u03b5\u03c1\u03bf \u03c4\u03c5\u03c0\u03b9\u03ba\u03ae \u03ba\u03b1\u03b9 \u03b2\u03b1\u03c1\u03cd\u03c4\u03b5\u03c1\u03b7 \u03b5\u03b9\u03ba\u03cc\u03bd\u03b1 KLEFS1 \u03b1\u03c0\u03cc \u03c4\u03b1 \u03b4\u03cd\u03bf \u03c0\u03b5\u03c1\u03b9\u03c3\u03c4\u03b1\u03c4\u03b9\u03ba\u03ac.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\u03a3\u03c4\u03bf \u03b4\u03b5\u03cd\u03c4\u03b5\u03c1\u03bf \u03c0\u03b5\u03c1\u03b9\u03c3\u03c4\u03b1\u03c4\u03b9\u03ba\u03cc, \u03b7 \u03bc\u03b9\u03ba\u03c1\u03ae \u03b5\u03bd\u03b4\u03bf\u03b3\u03bf\u03bd\u03b9\u03b4\u03b9\u03b1\u03ba\u03ae \u03b4\u03b9\u03b1\u03b3\u03c1\u03b1\u03c6\u03ae \u03b5\u03c0\u03b7\u03c1\u03b5\u03ac\u03b6\u03b5\u03b9 \u03ba\u03c5\u03c1\u03af\u03c9\u03c2 \u03c4\u03bf \u03c4\u03b5\u03bb\u03b9\u03ba\u03cc \u03c4\u03bc\u03ae\u03bc\u03b1 \u03c4\u03bf\u03c5 \u03b3\u03bf\u03bd\u03b9\u03b4\u03af\u03bf\u03c5 \u03ba\u03b1\u03b9 \u03c4\u03b7 SET \u03c0\u03b5\u03c1\u03b9\u03bf\u03c7\u03ae. \u039f\u03b9 \u03c3\u03c5\u03b3\u03b3\u03c1\u03b1\u03c6\u03b5\u03af\u03c2 \u03b4\u03b9\u03b1\u03c4\u03c5\u03c0\u03ce\u03bd\u03bf\u03c5\u03bd \u03c4\u03b7\u03bd \u03c5\u03c0\u03cc\u03b8\u03b5\u03c3\u03b7 \u03cc\u03c4\u03b9, <strong>\u03b5\u03c6\u03cc\u03c3\u03bf\u03bd \u03c4\u03bf \u03bc\u03b5\u03c4\u03b1\u03bb\u03bb\u03b1\u03b3\u03bc\u03ad\u03bd\u03bf RNA \u03b4\u03b9\u03b1\u03c6\u03cd\u03b3\u03b5\u03b9 \u03c4\u03bf\u03bd \u03bc\u03b7\u03c7\u03b1\u03bd\u03b9\u03c3\u03bc\u03cc nonsense-mediated decay \u03ba\u03b1\u03b9 \u03c0\u03b1\u03c1\u03b1\u03c7\u03b8\u03b5\u03af \u03bc\u03b5\u03c1\u03b9\u03ba\u03ce\u03c2 \u03bb\u03b5\u03b9\u03c4\u03bf\u03c5\u03c1\u03b3\u03b9\u03ba\u03ae \u03c0\u03c1\u03c9\u03c4\u03b5\u0390\u03bd\u03b7<\/strong>, \u03b1\u03c5\u03c4\u03cc \u03b8\u03b1 \u03bc\u03c0\u03bf\u03c1\u03bf\u03cd\u03c3\u03b5 \u03b5\u03bd\u03b4\u03b5\u03c7\u03bf\u03bc\u03ad\u03bd\u03c9\u03c2 \u03bd\u03b1 \u03c3\u03c5\u03bc\u03b2\u03ac\u03bb\u03bb\u03b5\u03b9 \u03c3\u03c4\u03b7\u03bd \u03b7\u03c0\u03b9\u03cc\u03c4\u03b5\u03c1\u03b7 \u03ba\u03bb\u03b9\u03bd\u03b9\u03ba\u03ae \u03b5\u03b9\u03ba\u03cc\u03bd\u03b1. \u03a0\u03c1\u03cc\u03ba\u03b5\u03b9\u03c4\u03b1\u03b9 \u03cc\u03bc\u03c9\u03c2 \u03b3\u03b9\u03b1 \u03b2\u03b9\u03bf\u03bb\u03bf\u03b3\u03b9\u03ba\u03ac \u03b5\u03cd\u03bb\u03bf\u03b3\u03b7 \u03c5\u03c0\u03cc\u03b8\u03b5\u03c3\u03b7 \u03ba\u03b1\u03b9 \u03cc\u03c7\u03b9 \u03b3\u03b9\u03b1 \u03ba\u03ac\u03c4\u03b9 \u03c0\u03bf\u03c5 \u03b1\u03c0\u03bf\u03b4\u03b5\u03af\u03c7\u03b8\u03b7\u03ba\u03b5 \u03bb\u03b5\u03b9\u03c4\u03bf\u03c5\u03c1\u03b3\u03b9\u03ba\u03ac \u03c3\u03c4\u03b7 \u03c3\u03c5\u03b3\u03ba\u03b5\u03ba\u03c1\u03b9\u03bc\u03ad\u03bd\u03b7 \u03bc\u03b5\u03bb\u03ad\u03c4\u03b7.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\u0391\u03c5\u03c4\u03ae \u03b7 \u03b4\u03b9\u03ac\u03ba\u03c1\u03b9\u03c3\u03b7 \u03b5\u03af\u03bd\u03b1\u03b9 \u03c3\u03b7\u03bc\u03b1\u03bd\u03c4\u03b9\u03ba\u03ae.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\u0394\u03b5\u03bd \u03bc\u03c0\u03bf\u03c1\u03bf\u03cd\u03bc\u03b5 \u03bd\u03b1 \u03c0\u03bf\u03cd\u03bc\u03b5 \u03b1\u03c0\u03bb\u03ce\u03c2 \u03cc\u03c4\u03b9 <strong>\u00ab\u03bf\u03b9 \u03b4\u03b9\u03b1\u03b3\u03c1\u03b1\u03c6\u03ad\u03c2 \u03c0\u03c1\u03bf\u03ba\u03b1\u03bb\u03bf\u03cd\u03bd \u03b7\u03c0\u03b9\u03cc\u03c4\u03b5\u03c1\u03bf Kleefstra\u00bb<\/strong> \u03ae \u03cc\u03c4\u03b9 \u03bc\u03b9\u03b1 \u03c3\u03c5\u03b3\u03ba\u03b5\u03ba\u03c1\u03b9\u03bc\u03ad\u03bd\u03b7 \u03b8\u03ad\u03c3\u03b7 \u03c3\u03c4\u03bf \u03b3\u03bf\u03bd\u03af\u03b4\u03b9\u03bf \u03c0\u03c1\u03bf\u03b2\u03bb\u03ad\u03c0\u03b5\u03b9 \u03bc\u03b5 \u03b2\u03b5\u03b2\u03b1\u03b9\u03cc\u03c4\u03b7\u03c4\u03b1 \u03c4\u03b7\u03bd \u03c0\u03bf\u03c1\u03b5\u03af\u03b1 \u03b5\u03bd\u03cc\u03c2 \u03c0\u03b1\u03b9\u03b4\u03b9\u03bf\u03cd.<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u03a4\u03b9 \u03bc\u03b1\u03c2 \u03ad\u03c7\u03b5\u03b9 \u03ae\u03b4\u03b7 \u03b4\u03b5\u03af\u03be\u03b5\u03b9 \u03b7 \u03bc\u03b5\u03b3\u03ac\u03bb\u03b7 \u03b4\u03b9\u03b5\u03b8\u03bd\u03ae\u03c2 \u03bc\u03b5\u03bb\u03ad\u03c4\u03b7 \u03c4\u03bf\u03c5 EHMT1<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">\u0397 \u03b5\u03bb\u03bb\u03b7\u03bd\u03b9\u03ba\u03ae \u03b5\u03c1\u03b3\u03b1\u03c3\u03af\u03b1 \u03b4\u03b7\u03bc\u03bf\u03c3\u03b9\u03b5\u03cd\u03b8\u03b7\u03ba\u03b5 \u03c3\u03b5 \u03bc\u03b9\u03b1 \u03c0\u03b5\u03c1\u03af\u03bf\u03b4\u03bf \u03ba\u03b1\u03c4\u03ac \u03c4\u03b7\u03bd \u03bf\u03c0\u03bf\u03af\u03b1 \u03b7 \u03ba\u03b1\u03c4\u03b1\u03bd\u03cc\u03b7\u03c3\u03b7 \u03c4\u03c9\u03bd \u03c3\u03c7\u03ad\u03c3\u03b5\u03c9\u03bd \u03bc\u03b5\u03c4\u03b1\u03be\u03cd \u03b3\u03bf\u03bd\u03cc\u03c4\u03c5\u03c0\u03bf\u03c5 \u03ba\u03b1\u03b9 \u03c6\u03b1\u03b9\u03bd\u03cc\u03c4\u03c5\u03c0\u03bf\u03c5 \u03c3\u03c4\u03bf Kleefstra \u03b1\u03bb\u03bb\u03ac\u03b6\u03b5\u03b9 \u03c3\u03b7\u03bc\u03b1\u03bd\u03c4\u03b9\u03ba\u03ac.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\u03a4\u03bf 2024, \u03bc\u03b9\u03b1 \u03bc\u03b5\u03b3\u03ac\u03bb\u03b7 \u03b4\u03b9\u03b5\u03b8\u03bd\u03ae\u03c2 \u03bc\u03b5\u03bb\u03ad\u03c4\u03b7 \u03b1\u03bd\u03ad\u03bb\u03c5\u03c3\u03b5 <strong>209 \u03ac\u03c4\u03bf\u03bc\u03b1 \u03bc\u03b5 \u03c3\u03c0\u03ac\u03bd\u03b9\u03b5\u03c2 \u03c0\u03b1\u03c1\u03b1\u03bb\u03bb\u03b1\u03b3\u03ad\u03c2 \u03c4\u03bf\u03c5 EHMT1<\/strong> \u03ba\u03b1\u03b9 \u03b5\u03c0\u03b9\u03b2\u03b5\u03b2\u03b1\u03af\u03c9\u03c3\u03b5 \u03bc\u03bf\u03c1\u03b9\u03b1\u03ba\u03ac KLEFS1 \u03c3\u03b5 191 \u03b1\u03c0\u03cc \u03b1\u03c5\u03c4\u03ac. \u0397 \u03b5\u03c1\u03b3\u03b1\u03c3\u03af\u03b1 \u03ad\u03b4\u03b5\u03b9\u03be\u03b5 \u03cc\u03c4\u03b9 \u03c4\u03bf \u03c6\u03ac\u03c3\u03bc\u03b1 \u03c4\u03bf\u03c5 \u03c3\u03c5\u03bd\u03b4\u03c1\u03cc\u03bc\u03bf\u03c5 \u03b5\u03af\u03bd\u03b1\u03b9 \u03c0\u03bf\u03bb\u03cd \u03b5\u03c5\u03c1\u03cd\u03c4\u03b5\u03c1\u03bf \u03b1\u03c0\u03cc \u03cc\u03c3\u03bf \u03c0\u03b9\u03c3\u03c4\u03b5\u03cd\u03b1\u03bc\u03b5 \u03c0\u03b1\u03bb\u03b1\u03b9\u03cc\u03c4\u03b5\u03c1\u03b1 \u03ba\u03b1\u03b9 \u03c0\u03b5\u03c1\u03b9\u03bb\u03b1\u03bc\u03b2\u03ac\u03bd\u03b5\u03b9 \u03b1\u03ba\u03cc\u03bc\u03b7 \u03ba\u03b1\u03b9 \u03b1\u03bd\u03b8\u03c1\u03ce\u03c0\u03bf\u03c5\u03c2 \u03bc\u03b5 \u03c3\u03c7\u03b5\u03c4\u03b9\u03ba\u03ac \u03ae\u03c0\u03b9\u03b1 \u03b5\u03b9\u03ba\u03cc\u03bd\u03b1, \u03c6\u03c5\u03c3\u03b9\u03bf\u03bb\u03bf\u03b3\u03b9\u03ba\u03ae \u03bd\u03bf\u03b7\u03c4\u03b9\u03ba\u03ae \u03bb\u03b5\u03b9\u03c4\u03bf\u03c5\u03c1\u03b3\u03af\u03b1 \u03c3\u03b5 \u03bf\u03c1\u03b9\u03c3\u03bc\u03ad\u03bd\u03b5\u03c2 \u03c0\u03b5\u03c1\u03b9\u03c0\u03c4\u03ce\u03c3\u03b5\u03b9\u03c2 \u03ba\u03b1\u03b9 \u03c3\u03c0\u03ac\u03bd\u03b9\u03b5\u03c2 \u03bf\u03b9\u03ba\u03bf\u03b3\u03b5\u03bd\u03b5\u03af\u03c2 \u03bc\u03bf\u03c1\u03c6\u03ad\u03c2.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\u0391\u03ba\u03cc\u03bc\u03b7 \u03c0\u03b9\u03bf \u03c3\u03b7\u03bc\u03b1\u03bd\u03c4\u03b9\u03ba\u03cc \u03ae\u03c4\u03b1\u03bd \u03cc\u03c4\u03b9 \u03bf\u03b9 \u03b5\u03c1\u03b5\u03c5\u03bd\u03b7\u03c4\u03ad\u03c2 \u03ad\u03b4\u03b5\u03b9\u03be\u03b1\u03bd \u03c0\u03c9\u03c2 <strong>\u03b4\u03b9\u03b1\u03c6\u03bf\u03c1\u03b5\u03c4\u03b9\u03ba\u03ad\u03c2 \u03ba\u03b1\u03c4\u03b7\u03b3\u03bf\u03c1\u03af\u03b5\u03c2 \u03bc\u03b5\u03c4\u03b1\u03b2\u03bf\u03bb\u03ce\u03bd \u03c3\u03c4\u03bf EHMT1 \u03bc\u03c0\u03bf\u03c1\u03bf\u03cd\u03bd \u03bd\u03b1 \u03b5\u03c0\u03b7\u03c1\u03b5\u03ac\u03b6\u03bf\u03c5\u03bd \u03bc\u03b5 \u03b4\u03b9\u03b1\u03c6\u03bf\u03c1\u03b5\u03c4\u03b9\u03ba\u03cc \u03c4\u03c1\u03cc\u03c0\u03bf \u03c4\u03b7 \u03bb\u03b5\u03b9\u03c4\u03bf\u03c5\u03c1\u03b3\u03af\u03b1 \u03c4\u03b7\u03c2 \u03c0\u03c1\u03c9\u03c4\u03b5\u0390\u03bd\u03b7\u03c2<\/strong>.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\u039c\u03b5\u03c4\u03b1\u03b2\u03bf\u03bb\u03ad\u03c2 \u03c0\u03bf\u03c5 \u03b5\u03c0\u03b7\u03c1\u03b5\u03ac\u03b6\u03bf\u03c5\u03bd \u03c4\u03b7\u03bd \u03c0\u03b5\u03c1\u03b9\u03bf\u03c7\u03ae ANKR \u03ba\u03b1\u03b9 \u03c4\u03b7 \u03bb\u03b5\u03b9\u03c4\u03bf\u03c5\u03c1\u03b3\u03af\u03b1 \u00ab\u03b1\u03bd\u03ac\u03b3\u03bd\u03c9\u03c3\u03b7\u03c2\u00bb \u03c4\u03c9\u03bd \u03b5\u03c0\u03b9\u03b3\u03b5\u03bd\u03b5\u03c4\u03b9\u03ba\u03ce\u03bd \u03c3\u03b7\u03bc\u03b1\u03b4\u03b9\u03ce\u03bd \u03bc\u03c0\u03bf\u03c1\u03bf\u03cd\u03bd \u03bd\u03b1 \u03c0\u03c1\u03bf\u03ba\u03b1\u03bb\u03ad\u03c3\u03bf\u03c5\u03bd KLEFS1, \u03b5\u03bd\u03ce \u03bf\u03c1\u03b9\u03c3\u03bc\u03ad\u03bd\u03b5\u03c2 \u03bc\u03b5\u03c4\u03b1\u03b2\u03bf\u03bb\u03ad\u03c2 \u03c0\u03bf\u03c5 \u03b4\u03b9\u03b1\u03c4\u03b1\u03c1\u03ac\u03c3\u03c3\u03bf\u03c5\u03bd \u03b1\u03c0\u03bf\u03ba\u03bb\u03b5\u03b9\u03c3\u03c4\u03b9\u03ba\u03ac \u03c4\u03b7\u03bd \u03b5\u03bd\u03b6\u03c5\u03bc\u03b9\u03ba\u03ae \u03bb\u03b5\u03b9\u03c4\u03bf\u03c5\u03c1\u03b3\u03af\u03b1 \u03c4\u03b7\u03c2 SET \u03c0\u03b5\u03c1\u03b9\u03bf\u03c7\u03ae\u03c2 \u03b4\u03b5\u03bd \u03c3\u03c5\u03bd\u03bf\u03b4\u03b5\u03cd\u03bf\u03bd\u03c4\u03b1\u03b9 \u03b1\u03c0\u03b1\u03c1\u03b1\u03af\u03c4\u03b7\u03c4\u03b1 \u03b1\u03c0\u03cc \u03c4\u03b7\u03bd \u03c4\u03c5\u03c0\u03b9\u03ba\u03ae \u03bc\u03bf\u03c1\u03b9\u03b1\u03ba\u03ae \u03c5\u03c0\u03bf\u03b3\u03c1\u03b1\u03c6\u03ae \u03ae \u03c4\u03b7\u03bd \u03ba\u03bb\u03b1\u03c3\u03b9\u03ba\u03ae \u03ba\u03bb\u03b9\u03bd\u03b9\u03ba\u03ae \u03b5\u03b9\u03ba\u03cc\u03bd\u03b1 \u03c4\u03bf\u03c5 \u03c3\u03c5\u03bd\u03b4\u03c1\u03cc\u03bc\u03bf\u03c5.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\u0391\u03c5\u03c4\u03cc \u03c0\u03c1\u03bf\u03c3\u03c6\u03ad\u03c1\u03b5\u03b9 \u03ad\u03bd\u03b1 \u03c3\u03b7\u03bc\u03b1\u03bd\u03c4\u03b9\u03ba\u03cc \u03c0\u03bb\u03b1\u03af\u03c3\u03b9\u03bf \u03b3\u03b9\u03b1 \u03c4\u03b7\u03bd \u03ba\u03b1\u03c4\u03b1\u03bd\u03cc\u03b7\u03c3\u03b7 \u03ba\u03b1\u03b9 \u03c4\u03bf\u03c5 \u03b4\u03b5\u03cd\u03c4\u03b5\u03c1\u03bf\u03c5 \u03b5\u03bb\u03bb\u03b7\u03bd\u03b9\u03ba\u03bf\u03cd \u03c0\u03b5\u03c1\u03b9\u03c3\u03c4\u03b1\u03c4\u03b9\u03ba\u03bf\u03cd. \u0394\u03b5\u03bd \u03b1\u03c0\u03bf\u03b4\u03b5\u03b9\u03ba\u03bd\u03cd\u03b5\u03b9 \u03cc\u03c4\u03b9 \u03b7 \u03c3\u03c5\u03b3\u03ba\u03b5\u03ba\u03c1\u03b9\u03bc\u03ad\u03bd\u03b7 \u03b4\u03b9\u03b1\u03b3\u03c1\u03b1\u03c6\u03ae \u03c4\u03c9\u03bd 11 kb \u03c0\u03c1\u03bf\u03ba\u03b1\u03bb\u03b5\u03af \u03c0\u03ac\u03bd\u03c4\u03bf\u03c4\u03b5 \u03ae\u03c0\u03b9\u03b1 \u03bc\u03bf\u03c1\u03c6\u03ae, \u03b1\u03bb\u03bb\u03ac \u03c5\u03c0\u03bf\u03c3\u03c4\u03b7\u03c1\u03af\u03b6\u03b5\u03b9 \u03c4\u03b7\u03bd \u03b5\u03c5\u03c1\u03cd\u03c4\u03b5\u03c1\u03b7 \u03b9\u03b4\u03ad\u03b1 \u03cc\u03c4\u03b9 <strong>\u03b4\u03b5\u03bd \u03ad\u03c7\u03b5\u03b9 \u03c3\u03b7\u03bc\u03b1\u03c3\u03af\u03b1 \u03bc\u03cc\u03bd\u03bf \u03b1\u03bd \u03c4\u03bf EHMT1 \u03ad\u03c7\u03b5\u03b9 \u03b5\u03c0\u03b7\u03c1\u03b5\u03b1\u03c3\u03c4\u03b5\u03af, \u03ad\u03c7\u03b5\u03b9 \u03c3\u03b7\u03bc\u03b1\u03c3\u03af\u03b1 \u03ba\u03b1\u03b9 \u03c0\u03ce\u03c2 \u03b1\u03ba\u03c1\u03b9\u03b2\u03ce\u03c2 \u03ad\u03c7\u03b5\u03b9 \u03b5\u03c0\u03b7\u03c1\u03b5\u03b1\u03c3\u03c4\u03b5\u03af \u03b7 \u03bb\u03b5\u03b9\u03c4\u03bf\u03c5\u03c1\u03b3\u03af\u03b1 \u03c4\u03bf\u03c5<\/strong>.<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u03a4\u03b9 \u03bc\u03b1\u03c2 \u03b4\u03b9\u03b4\u03ac\u03c3\u03ba\u03bf\u03c5\u03bd \u03bf\u03b9 \u03b4\u03cd\u03bf \u03b5\u03bb\u03bb\u03b7\u03bd\u03b9\u03ba\u03ad\u03c2 \u03c0\u03b5\u03c1\u03b9\u03c0\u03c4\u03ce\u03c3\u03b5\u03b9\u03c2<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">\u038a\u03c3\u03c9\u03c2 \u03c4\u03bf \u03c0\u03b9\u03bf \u03b5\u03bd\u03b4\u03b9\u03b1\u03c6\u03ad\u03c1\u03bf\u03bd \u03bc\u03ad\u03c1\u03bf\u03c2 \u03c4\u03b7\u03c2 \u03b5\u03c1\u03b3\u03b1\u03c3\u03af\u03b1\u03c2 \u03b3\u03b9\u03b1 \u03c4\u03b9\u03c2 \u03bf\u03b9\u03ba\u03bf\u03b3\u03ad\u03bd\u03b5\u03b9\u03b5\u03c2 \u03bd\u03b1 \u03bc\u03b7\u03bd \u03b5\u03af\u03bd\u03b1\u03b9 \u03bf\u03b9 \u03b1\u03ba\u03c1\u03b9\u03b2\u03b5\u03af\u03c2 \u03b3\u03b5\u03bd\u03b5\u03c4\u03b9\u03ba\u03ad\u03c2 \u03c3\u03c5\u03bd\u03c4\u03b5\u03c4\u03b1\u03b3\u03bc\u03ad\u03bd\u03b5\u03c2, \u03b1\u03bb\u03bb\u03ac \u03b7 \u03b4\u03b9\u03b1\u03c6\u03bf\u03c1\u03b5\u03c4\u03b9\u03ba\u03ae \u03b5\u03b9\u03ba\u03cc\u03bd\u03b1 \u03c4\u03c9\u03bd \u03b4\u03cd\u03bf \u03c0\u03b1\u03b9\u03b4\u03b9\u03ce\u03bd.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\u039a\u03b1\u03b9 \u03c4\u03b1 \u03b4\u03cd\u03bf \u03b5\u03af\u03c7\u03b1\u03bd \u03bc\u03bf\u03c1\u03b9\u03b1\u03ba\u03ac \u03b5\u03c0\u03b9\u03b2\u03b5\u03b2\u03b1\u03b9\u03c9\u03bc\u03ad\u03bd\u03bf KLEFS1.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\u039a\u03b1\u03b9 \u03c4\u03b1 \u03b4\u03cd\u03bf \u03c0\u03b1\u03c1\u03bf\u03c5\u03c3\u03af\u03b1\u03b6\u03b1\u03bd \u03b1\u03bd\u03b1\u03c0\u03c4\u03c5\u03be\u03b9\u03b1\u03ba\u03ae \u03ba\u03b1\u03b8\u03c5\u03c3\u03c4\u03ad\u03c1\u03b7\u03c3\u03b7, \u03c5\u03c0\u03bf\u03c4\u03bf\u03bd\u03af\u03b1 \u03ba\u03b1\u03b9 \u03c7\u03b1\u03c1\u03b1\u03ba\u03c4\u03b7\u03c1\u03b9\u03c3\u03c4\u03b9\u03ba\u03ac \u03c4\u03bf\u03c5 \u03c0\u03c1\u03bf\u03c3\u03ce\u03c0\u03bf\u03c5 \u03c3\u03c5\u03bc\u03b2\u03b1\u03c4\u03ac \u03bc\u03b5 \u03c4\u03bf \u03c3\u03cd\u03bd\u03b4\u03c1\u03bf\u03bc\u03bf.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\u03a9\u03c3\u03c4\u03cc\u03c3\u03bf, \u03c4\u03bf \u03c0\u03c1\u03ce\u03c4\u03bf \u03c0\u03b1\u03b9\u03b4\u03af \u03c0\u03b1\u03c1\u03bf\u03c5\u03c3\u03af\u03b1\u03b6\u03b5 <strong>\u03bc\u03ad\u03c4\u03c1\u03b9\u03b1 \u03bd\u03bf\u03b7\u03c4\u03b9\u03ba\u03ae \u03b1\u03bd\u03b1\u03c0\u03b7\u03c1\u03af\u03b1, \u03b5\u03c0\u03b9\u03bb\u03b7\u03c8\u03af\u03b1, \u03c3\u03b7\u03bc\u03b1\u03bd\u03c4\u03b9\u03ba\u03cc\u03c4\u03b5\u03c1\u03b5\u03c2 \u03c3\u03c5\u03bc\u03c0\u03b5\u03c1\u03b9\u03c6\u03bf\u03c1\u03b9\u03ba\u03ad\u03c2 \u03b4\u03c5\u03c3\u03ba\u03bf\u03bb\u03af\u03b5\u03c2 \u03ba\u03b1\u03b9 \u03b4\u03b9\u03b1\u03c4\u03b1\u03c1\u03b1\u03c7\u03ad\u03c2 \u03cd\u03c0\u03bd\u03bf\u03c5<\/strong>, \u03b5\u03bd\u03ce \u03c4\u03bf \u03b4\u03b5\u03cd\u03c4\u03b5\u03c1\u03bf \u03b5\u03af\u03c7\u03b5 <strong>\u03ae\u03c0\u03b9\u03b1 \u03bd\u03bf\u03b7\u03c4\u03b9\u03ba\u03ae \u03b1\u03bd\u03b1\u03c0\u03b7\u03c1\u03af\u03b1 \u03ba\u03b1\u03b9 \u03bc\u03c0\u03bf\u03c1\u03bf\u03cd\u03c3\u03b5 \u03bd\u03b1 \u03c0\u03b1\u03c1\u03b1\u03ba\u03bf\u03bb\u03bf\u03c5\u03b8\u03b5\u03af \u03c0\u03c1\u03cc\u03b3\u03c1\u03b1\u03bc\u03bc\u03b1 \u03b3\u03b5\u03bd\u03b9\u03ba\u03bf\u03cd \u03c3\u03c7\u03bf\u03bb\u03b5\u03af\u03bf\u03c5 \u03bc\u03b5 \u03c0\u03c1\u03cc\u03c3\u03b8\u03b5\u03c4\u03b7 \u03c5\u03c0\u03bf\u03c3\u03c4\u03ae\u03c1\u03b9\u03be\u03b7<\/strong>.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\u0391\u03c5\u03c4\u03ae \u03b7 \u03b4\u03b9\u03b1\u03c6\u03bf\u03c1\u03ac \u03b5\u03af\u03bd\u03b1\u03b9 \u03ad\u03bd\u03b1 \u03b1\u03ba\u03cc\u03bc\u03b7 \u03c0\u03b1\u03c1\u03ac\u03b4\u03b5\u03b9\u03b3\u03bc\u03b1 \u03c4\u03b7\u03c2 \u03bc\u03b5\u03b3\u03ac\u03bb\u03b7\u03c2 <strong>\u03ba\u03bb\u03b9\u03bd\u03b9\u03ba\u03ae\u03c2 \u03b5\u03c4\u03b5\u03c1\u03bf\u03b3\u03ad\u03bd\u03b5\u03b9\u03b1\u03c2 \u03c4\u03bf\u03c5 \u03c3\u03c5\u03bd\u03b4\u03c1\u03cc\u03bc\u03bf\u03c5 Kleefstra<\/strong>.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\u0393\u03b9\u03b1 \u03ad\u03bd\u03b1\u03bd \u03b3\u03bf\u03bd\u03ad\u03b1 \u03b1\u03c5\u03c4\u03cc \u03ad\u03c7\u03b5\u03b9 \u03b9\u03b4\u03b9\u03b1\u03af\u03c4\u03b5\u03c1\u03b7 \u03c3\u03b7\u03bc\u03b1\u03c3\u03af\u03b1: \u03b7 \u03b3\u03b5\u03bd\u03b5\u03c4\u03b9\u03ba\u03ae \u03b4\u03b9\u03ac\u03b3\u03bd\u03c9\u03c3\u03b7 \u03b5\u03af\u03bd\u03b1\u03b9 \u03b5\u03be\u03b1\u03b9\u03c1\u03b5\u03c4\u03b9\u03ba\u03ac \u03c3\u03b7\u03bc\u03b1\u03bd\u03c4\u03b9\u03ba\u03ae, \u03b1\u03bb\u03bb\u03ac <strong>\u03b4\u03b5\u03bd \u03b1\u03c0\u03bf\u03c4\u03b5\u03bb\u03b5\u03af \u03b1\u03c0\u03cc \u03bc\u03cc\u03bd\u03b7 \u03c4\u03b7\u03c2 \u03b1\u03ba\u03c1\u03b9\u03b2\u03ae \u03c0\u03c1\u03cc\u03b2\u03bb\u03b5\u03c8\u03b7 \u03c4\u03bf\u03c5 \u03bc\u03ad\u03bb\u03bb\u03bf\u03bd\u03c4\u03bf\u03c2 \u03b5\u03bd\u03cc\u03c2 \u03c0\u03b1\u03b9\u03b4\u03b9\u03bf\u03cd<\/strong>.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\u0391\u03ba\u03cc\u03bc\u03b7 \u03ba\u03b1\u03b9 \u03b4\u03cd\u03bf \u03c0\u03b1\u03b9\u03b4\u03b9\u03ac \u03bc\u03b5 \u03c0\u03b1\u03b8\u03bf\u03b3\u03cc\u03bd\u03b5\u03c2 \u03bc\u03b5\u03c4\u03b1\u03b2\u03bf\u03bb\u03ad\u03c2 \u03c3\u03c4\u03bf \u03af\u03b4\u03b9\u03bf \u03b3\u03bf\u03bd\u03af\u03b4\u03b9\u03bf \u03bc\u03c0\u03bf\u03c1\u03bf\u03cd\u03bd \u03bd\u03b1 \u03b4\u03b9\u03b1\u03c6\u03ad\u03c1\u03bf\u03c5\u03bd \u03c3\u03b7\u03bc\u03b1\u03bd\u03c4\u03b9\u03ba\u03ac \u03c9\u03c2 \u03c0\u03c1\u03bf\u03c2 \u03c4\u03b7 \u03b3\u03bb\u03ce\u03c3\u03c3\u03b1, \u03c4\u03b7 \u03bc\u03ac\u03b8\u03b7\u03c3\u03b7, \u03c4\u03b7 \u03c3\u03c5\u03bc\u03c0\u03b5\u03c1\u03b9\u03c6\u03bf\u03c1\u03ac, \u03c4\u03b7\u03bd \u03b5\u03c0\u03b9\u03bb\u03b7\u03c8\u03af\u03b1, \u03c4\u03b9\u03c2 \u03c3\u03c5\u03bd\u03bf\u03b4\u03ad\u03c2 \u03bf\u03c1\u03b3\u03b1\u03bd\u03b9\u03ba\u03ad\u03c2 \u03b5\u03ba\u03b4\u03b7\u03bb\u03ce\u03c3\u03b5\u03b9\u03c2 \u03ba\u03b1\u03b9 \u03c4\u03bf\u03bd \u03b2\u03b1\u03b8\u03bc\u03cc \u03b1\u03c5\u03c4\u03bf\u03bd\u03bf\u03bc\u03af\u03b1\u03c2.<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u039f\u03cd\u03c4\u03b5 \u03b7 \u03b1\u03c0\u03bf\u03c5\u03c3\u03af\u03b1 \u03c7\u03b1\u03c1\u03b1\u03ba\u03c4\u03b7\u03c1\u03b9\u03c3\u03c4\u03b9\u03ba\u03ce\u03bd \u03b1\u03c0\u03bf\u03ba\u03bb\u03b5\u03af\u03b5\u03b9 \u03c4\u03bf Kleefstra<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">\u039a\u03b1\u03b9 \u03c4\u03b1 \u03b4\u03cd\u03bf \u03c0\u03b1\u03b9\u03b4\u03b9\u03ac \u03c4\u03b7\u03c2 \u03b5\u03bb\u03bb\u03b7\u03bd\u03b9\u03ba\u03ae\u03c2 \u03bc\u03b5\u03bb\u03ad\u03c4\u03b7\u03c2 \u03b4\u03b5\u03bd \u03c0\u03b1\u03c1\u03bf\u03c5\u03c3\u03af\u03b1\u03b6\u03b1\u03bd \u03c0\u03b1\u03c7\u03c5\u03c3\u03b1\u03c1\u03ba\u03af\u03b1 \u03ba\u03b1\u03b9 \u03b4\u03b5\u03bd \u03b5\u03af\u03c7\u03b1\u03bd \u03c3\u03bf\u03b2\u03b1\u03c1\u03ae \u03c0\u03bf\u03bb\u03c5\u03c3\u03c5\u03c3\u03c4\u03b7\u03bc\u03b1\u03c4\u03b9\u03ba\u03ae \u03b5\u03c0\u03b9\u03b2\u03ac\u03c1\u03c5\u03bd\u03c3\u03b7 \u03ba\u03b1\u03c4\u03ac \u03c4\u03b7\u03bd \u03b7\u03bb\u03b9\u03ba\u03af\u03b1 \u03c3\u03c4\u03b7\u03bd \u03bf\u03c0\u03bf\u03af\u03b1 \u03b1\u03be\u03b9\u03bf\u03bb\u03bf\u03b3\u03ae\u03b8\u03b7\u03ba\u03b1\u03bd. \u03a3\u03c4\u03bf \u03c0\u03c1\u03ce\u03c4\u03bf \u03c0\u03b1\u03b9\u03b4\u03af \u03c5\u03c0\u03ae\u03c1\u03c7\u03b5 \u03b9\u03c3\u03c4\u03bf\u03c1\u03b9\u03ba\u03cc \u03bc\u03b9\u03ba\u03c1\u03bf\u03cd \u03ba\u03b1\u03c1\u03b4\u03b9\u03b1\u03ba\u03bf\u03cd \u03b5\u03bb\u03bb\u03b5\u03af\u03bc\u03bc\u03b1\u03c4\u03bf\u03c2 \u03c0\u03bf\u03c5 \u03b5\u03af\u03c7\u03b5 \u03b1\u03c0\u03bf\u03ba\u03b1\u03c4\u03b1\u03c3\u03c4\u03b1\u03b8\u03b5\u03af \u03b1\u03c5\u03c4\u03cc\u03bc\u03b1\u03c4\u03b1, \u03ba\u03b1\u03b8\u03ce\u03c2 \u03ba\u03b1\u03b9 \u03b5\u03c0\u03b9\u03bb\u03b7\u03c8\u03af\u03b1, \u03b5\u03bd\u03ce \u03c3\u03c4\u03bf \u03b4\u03b5\u03cd\u03c4\u03b5\u03c1\u03bf \u03b4\u03b5\u03bd \u03ba\u03b1\u03c4\u03b1\u03b3\u03c1\u03ac\u03c6\u03bf\u03bd\u03c4\u03b1\u03bd \u03c3\u03b7\u03bc\u03b1\u03bd\u03c4\u03b9\u03ba\u03ad\u03c2 \u03ba\u03b1\u03c1\u03b4\u03b9\u03bf\u03bb\u03bf\u03b3\u03b9\u03ba\u03ad\u03c2, \u03bd\u03b5\u03c6\u03c1\u03b9\u03ba\u03ad\u03c2, \u03b3\u03b1\u03c3\u03c4\u03c1\u03b5\u03bd\u03c4\u03b5\u03c1\u03b9\u03ba\u03ad\u03c2 \u03ae \u03b1\u03b9\u03c3\u03b8\u03b7\u03c4\u03b7\u03c1\u03b9\u03b1\u03ba\u03ad\u03c2 \u03b5\u03c0\u03b9\u03c0\u03bb\u03bf\u03ba\u03ad\u03c2.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\u0391\u03c5\u03c4\u03cc \u03c5\u03c0\u03b5\u03bd\u03b8\u03c5\u03bc\u03af\u03b6\u03b5\u03b9 \u03ad\u03bd\u03b1 \u03c3\u03b7\u03bc\u03b1\u03bd\u03c4\u03b9\u03ba\u03cc \u03c3\u03b7\u03bc\u03b5\u03af\u03bf: <strong>\u03ba\u03b1\u03bd\u03ad\u03bd\u03b1 \u03ac\u03c4\u03bf\u03bc\u03bf \u03b4\u03b5\u03bd \u03c7\u03c1\u03b5\u03b9\u03ac\u03b6\u03b5\u03c4\u03b1\u03b9 \u03bd\u03b1 \u03b5\u03bc\u03c6\u03b1\u03bd\u03af\u03b6\u03b5\u03b9 \u03cc\u03bb\u03b1 \u03c4\u03b1 \u03c7\u03b1\u03c1\u03b1\u03ba\u03c4\u03b7\u03c1\u03b9\u03c3\u03c4\u03b9\u03ba\u03ac \u03c0\u03bf\u03c5 \u03c0\u03b5\u03c1\u03b9\u03b3\u03c1\u03ac\u03c6\u03bf\u03bd\u03c4\u03b1\u03b9 \u03b3\u03b9\u03b1 \u03c4\u03bf Kleefstra \u03c0\u03c1\u03bf\u03ba\u03b5\u03b9\u03bc\u03ad\u03bd\u03bf\u03c5 \u03bd\u03b1 \u03ad\u03c7\u03b5\u03b9 \u03c4\u03bf \u03c3\u03cd\u03bd\u03b4\u03c1\u03bf\u03bc\u03bf<\/strong>.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\u039f\u03b9 \u03c0\u03b1\u03bb\u03b1\u03b9\u03cc\u03c4\u03b5\u03c1\u03b5\u03c2 \u03c0\u03b5\u03c1\u03b9\u03b3\u03c1\u03b1\u03c6\u03ad\u03c2 \u03c4\u03bf\u03c5 KLEFS1 \u03b2\u03b1\u03c3\u03af\u03b6\u03bf\u03bd\u03c4\u03b1\u03bd \u03c3\u03b5 \u03bc\u03b5\u03b3\u03ac\u03bb\u03bf \u03b2\u03b1\u03b8\u03bc\u03cc \u03c3\u03b5 \u03ac\u03c4\u03bf\u03bc\u03b1 \u03bc\u03b5 \u03c0\u03b9\u03bf \u03b5\u03bc\u03c6\u03b1\u03bd\u03ae \u03ba\u03b1\u03b9 \u03c3\u03bf\u03b2\u03b1\u03c1\u03ae \u03ba\u03bb\u03b9\u03bd\u03b9\u03ba\u03ae \u03b5\u03b9\u03ba\u03cc\u03bd\u03b1. \u039a\u03b1\u03b8\u03ce\u03c2 \u03b7 \u03b3\u03b5\u03bd\u03b5\u03c4\u03b9\u03ba\u03ae \u03b4\u03b9\u03ac\u03b3\u03bd\u03c9\u03c3\u03b7 \u03b3\u03af\u03bd\u03b5\u03c4\u03b1\u03b9 \u03b5\u03c5\u03c1\u03cd\u03c4\u03b5\u03c1\u03b7, \u03b5\u03bd\u03c4\u03bf\u03c0\u03af\u03b6\u03bf\u03bd\u03c4\u03b1\u03b9 \u03c0\u03bb\u03ad\u03bf\u03bd \u03ba\u03b1\u03b9 \u03ac\u03bd\u03b8\u03c1\u03c9\u03c0\u03bf\u03b9 \u03bc\u03b5 \u03b7\u03c0\u03b9\u03cc\u03c4\u03b5\u03c1\u03b1 \u03ae \u03bb\u03b9\u03b3\u03cc\u03c4\u03b5\u03c1\u03bf \u00ab\u03c4\u03c5\u03c0\u03b9\u03ba\u03ac\u00bb \u03c7\u03b1\u03c1\u03b1\u03ba\u03c4\u03b7\u03c1\u03b9\u03c3\u03c4\u03b9\u03ba\u03ac. \u0397 \u03bc\u03b5\u03b3\u03ac\u03bb\u03b7 \u03b4\u03b9\u03b5\u03b8\u03bd\u03ae\u03c2 \u03bc\u03b5\u03bb\u03ad\u03c4\u03b7 \u03c4\u03bf\u03c5 2024 \u03b5\u03c0\u03b9\u03b2\u03b5\u03b2\u03b1\u03af\u03c9\u03c3\u03b5 \u03bc\u03b5 \u03c3\u03b1\u03c6\u03ae\u03bd\u03b5\u03b9\u03b1 \u03b1\u03c5\u03c4\u03ae \u03c4\u03b7 \u03b4\u03b9\u03b5\u03cd\u03c1\u03c5\u03bd\u03c3\u03b7 \u03c4\u03bf\u03c5 \u03c6\u03b1\u03b9\u03bd\u03bf\u03c4\u03c5\u03c0\u03b9\u03ba\u03bf\u03cd \u03c6\u03ac\u03c3\u03bc\u03b1\u03c4\u03bf\u03c2.<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u0393\u03b9\u03b1\u03c4\u03af \u03c7\u03c1\u03b5\u03b9\u03ac\u03c3\u03c4\u03b7\u03ba\u03b1\u03bd \u03b4\u03b9\u03b1\u03c6\u03bf\u03c1\u03b5\u03c4\u03b9\u03ba\u03ad\u03c2 \u03b3\u03b5\u03bd\u03b5\u03c4\u03b9\u03ba\u03ad\u03c2 \u03b5\u03be\u03b5\u03c4\u03ac\u03c3\u03b5\u03b9\u03c2<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">\u039f\u03b9 \u03b4\u03cd\u03bf \u03c0\u03b5\u03c1\u03b9\u03c0\u03c4\u03ce\u03c3\u03b5\u03b9\u03c2 \u03b4\u03b5\u03af\u03c7\u03bd\u03bf\u03c5\u03bd \u03b5\u03c0\u03af\u03c3\u03b7\u03c2 \u03c0\u03bf\u03bb\u03cd \u03cc\u03bc\u03bf\u03c1\u03c6\u03b1 \u03b3\u03b9\u03b1\u03c4\u03af \u03c3\u03c4\u03b7 \u03c3\u03cd\u03b3\u03c7\u03c1\u03bf\u03bd\u03b7 \u03b3\u03b5\u03bd\u03b5\u03c4\u03b9\u03ba\u03ae \u03b4\u03b9\u03ac\u03b3\u03bd\u03c9\u03c3\u03b7 \u03b4\u03b5\u03bd \u03c5\u03c0\u03ac\u03c1\u03c7\u03b5\u03b9 \u03bc\u03af\u03b1 \u03b5\u03be\u03ad\u03c4\u03b1\u03c3\u03b7 \u03c0\u03bf\u03c5 \u03bd\u03b1 \u03b1\u03bd\u03b9\u03c7\u03bd\u03b5\u03cd\u03b5\u03b9 \u03c0\u03ac\u03bd\u03c4\u03b1 \u03ba\u03ac\u03b8\u03b5 \u03c4\u03cd\u03c0\u03bf \u03b2\u03bb\u03ac\u03b2\u03b7\u03c2.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\u03a3\u03c4\u03bf \u03c0\u03c1\u03ce\u03c4\u03bf \u03c0\u03b1\u03b9\u03b4\u03af \u03b7 \u03b4\u03b9\u03ac\u03b3\u03bd\u03c9\u03c3\u03b7 \u03ad\u03b3\u03b9\u03bd\u03b5 \u03bc\u03b5 <strong>exome sequencing<\/strong>, \u03b5\u03c0\u03b5\u03b9\u03b4\u03ae \u03b5\u03c0\u03c1\u03cc\u03ba\u03b5\u03b9\u03c4\u03bf \u03b3\u03b9\u03b1 \u03bc\u03b9\u03ba\u03c1\u03ae \u03bc\u03b5\u03c4\u03b1\u03b2\u03bf\u03bb\u03ae \u03c3\u03c4\u03b7\u03bd \u03b1\u03bb\u03bb\u03b7\u03bb\u03bf\u03c5\u03c7\u03af\u03b1 \u03c4\u03bf\u03c5 <em>EHMT1<\/em>.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\u03a3\u03c4\u03bf \u03b4\u03b5\u03cd\u03c4\u03b5\u03c1\u03bf \u03b7 \u03b4\u03b9\u03ac\u03b3\u03bd\u03c9\u03c3\u03b7 \u03ad\u03b3\u03b9\u03bd\u03b5 \u03bc\u03b5 <strong>chromosomal microarray<\/strong>, \u03b5\u03c0\u03b5\u03b9\u03b4\u03ae \u03b5\u03c0\u03c1\u03cc\u03ba\u03b5\u03b9\u03c4\u03bf \u03b3\u03b9\u03b1 \u03b1\u03c0\u03ce\u03bb\u03b5\u03b9\u03b1 \u03b5\u03bd\u03cc\u03c2 \u03bc\u03b9\u03ba\u03c1\u03bf\u03cd \u03c4\u03bc\u03ae\u03bc\u03b1\u03c4\u03bf\u03c2 DNA, \u03bc\u03b9\u03b1 copy-number variant, \u03c0\u03bf\u03c5 \u03c0\u03b5\u03c1\u03b9\u03bb\u03ac\u03bc\u03b2\u03b1\u03bd\u03b5 \u03b1\u03c1\u03ba\u03b5\u03c4\u03ac \u03b5\u03be\u03cc\u03bd\u03b9\u03b1 \u03c4\u03bf\u03c5 \u03b3\u03bf\u03bd\u03b9\u03b4\u03af\u03bf\u03c5.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\u039a\u03b1\u03b9 \u03c3\u03c4\u03b9\u03c2 \u03b4\u03cd\u03bf \u03c0\u03b5\u03c1\u03b9\u03c0\u03c4\u03ce\u03c3\u03b5\u03b9\u03c2, \u03c0\u03b1\u03bb\u03b1\u03b9\u03cc\u03c4\u03b5\u03c1\u03bf\u03b9 \u03ad\u03bb\u03b5\u03b3\u03c7\u03bf\u03b9 \u03cc\u03c0\u03c9\u03c2 \u03bf \u03c3\u03c5\u03bc\u03b2\u03b1\u03c4\u03b9\u03ba\u03cc\u03c2 \u03ba\u03b1\u03c1\u03c5\u03cc\u03c4\u03c5\u03c0\u03bf\u03c2 \u03b4\u03b5\u03bd \u03b5\u03af\u03c7\u03b1\u03bd \u03b4\u03ce\u03c3\u03b5\u03b9 \u03c4\u03b7 \u03b4\u03b9\u03ac\u03b3\u03bd\u03c9\u03c3\u03b7.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\u0391\u03c5\u03c4\u03cc \u03b5\u03af\u03bd\u03b1\u03b9 \u03b9\u03b4\u03b9\u03b1\u03af\u03c4\u03b5\u03c1\u03b1 \u03c3\u03b7\u03bc\u03b1\u03bd\u03c4\u03b9\u03ba\u03cc \u03c3\u03b5 \u03c0\u03b1\u03b9\u03b4\u03b9\u03ac \u03bc\u03b5 \u03b1\u03bd\u03b5\u03be\u03ae\u03b3\u03b7\u03c4\u03b7 \u03b1\u03bd\u03b1\u03c0\u03c4\u03c5\u03be\u03b9\u03b1\u03ba\u03ae \u03ba\u03b1\u03b8\u03c5\u03c3\u03c4\u03ad\u03c1\u03b7\u03c3\u03b7: \u03ad\u03bd\u03b1 \u00ab\u03c6\u03c5\u03c3\u03b9\u03bf\u03bb\u03bf\u03b3\u03b9\u03ba\u03cc\u00bb \u03b1\u03c0\u03bf\u03c4\u03ad\u03bb\u03b5\u03c3\u03bc\u03b1 \u03c3\u03b5 \u03bc\u03b9\u03b1 \u03c0\u03b1\u03bb\u03b1\u03b9\u03cc\u03c4\u03b5\u03c1\u03b7 \u03b3\u03b5\u03bd\u03b5\u03c4\u03b9\u03ba\u03ae \u03b5\u03be\u03ad\u03c4\u03b1\u03c3\u03b7 <strong>\u03b4\u03b5\u03bd \u03c3\u03b7\u03bc\u03b1\u03af\u03bd\u03b5\u03b9 \u03b1\u03c0\u03b1\u03c1\u03b1\u03af\u03c4\u03b7\u03c4\u03b1 \u03cc\u03c4\u03b9 \u03ad\u03c7\u03b5\u03b9 \u03b1\u03c0\u03bf\u03ba\u03bb\u03b5\u03b9\u03c3\u03c4\u03b5\u03af \u03bc\u03b9\u03b1 \u03bc\u03bf\u03c1\u03b9\u03b1\u03ba\u03ae \u03b3\u03b5\u03bd\u03b5\u03c4\u03b9\u03ba\u03ae \u03b1\u03b9\u03c4\u03af\u03b1<\/strong>. \u0397 \u03b5\u03c0\u03b9\u03bb\u03bf\u03b3\u03ae \u03c4\u03b7\u03c2 \u03ba\u03b1\u03c4\u03ac\u03bb\u03bb\u03b7\u03bb\u03b7\u03c2 \u03b5\u03be\u03ad\u03c4\u03b1\u03c3\u03b7\u03c2 \u03b5\u03be\u03b1\u03c1\u03c4\u03ac\u03c4\u03b1\u03b9 \u03b1\u03c0\u03cc \u03c4\u03b7\u03bd \u03ba\u03bb\u03b9\u03bd\u03b9\u03ba\u03ae \u03b5\u03b9\u03ba\u03cc\u03bd\u03b1 \u03ba\u03b1\u03b9 \u03c0\u03c1\u03ad\u03c0\u03b5\u03b9 \u03bd\u03b1 \u03b3\u03af\u03bd\u03b5\u03c4\u03b1\u03b9 \u03b1\u03c0\u03cc \u03ba\u03bb\u03b9\u03bd\u03b9\u03ba\u03cc \u03b3\u03b5\u03bd\u03b5\u03c4\u03b9\u03c3\u03c4\u03ae \u03ae \u03c4\u03b7\u03bd \u03b1\u03c1\u03bc\u03cc\u03b4\u03b9\u03b1 \u03b9\u03b1\u03c4\u03c1\u03b9\u03ba\u03ae \u03bf\u03bc\u03ac\u03b4\u03b1.<\/p>\n\n\n\n<div class=\"wp-block-group study-meaning\"><div class=\"wp-block-group__inner-container is-layout-constrained wp-block-group-is-layout-constrained\">\n<h2 class=\"wp-block-heading\">\u0393\u03b9\u03b1\u03c4\u03af \u03b7 \u03b5\u03bb\u03bb\u03b7\u03bd\u03b9\u03ba\u03ae \u03b1\u03c5\u03c4\u03ae \u03b5\u03c1\u03b3\u03b1\u03c3\u03af\u03b1 \u03b5\u03af\u03bd\u03b1\u03b9 \u03c3\u03b7\u03bc\u03b1\u03bd\u03c4\u03b9\u03ba\u03ae<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">\u0397 \u03c3\u03c5\u03b3\u03ba\u03b5\u03ba\u03c1\u03b9\u03bc\u03ad\u03bd\u03b7 \u03b4\u03b7\u03bc\u03bf\u03c3\u03af\u03b5\u03c5\u03c3\u03b7 \u03b4\u03b5\u03bd \u03b1\u03bd\u03b1\u03ba\u03bf\u03b9\u03bd\u03ce\u03bd\u03b5\u03b9 \u03b8\u03b5\u03c1\u03b1\u03c0\u03b5\u03af\u03b1 \u03ba\u03b1\u03b9 \u03b4\u03b5\u03bd \u03b1\u03bb\u03bb\u03ac\u03b6\u03b5\u03b9 \u03c4\u03b9\u03c2 \u03c3\u03b7\u03bc\u03b5\u03c1\u03b9\u03bd\u03ad\u03c2 \u03ba\u03b1\u03c4\u03b5\u03c5\u03b8\u03c5\u03bd\u03c4\u03ae\u03c1\u03b9\u03b5\u03c2 \u03bf\u03b4\u03b7\u03b3\u03af\u03b5\u03c2 \u03c6\u03c1\u03bf\u03bd\u03c4\u03af\u03b4\u03b1\u03c2.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\u03a0\u03c1\u03bf\u03c3\u03b8\u03ad\u03c4\u03b5\u03b9 \u03cc\u03bc\u03c9\u03c2 <strong>\u03b4\u03cd\u03bf \u03bd\u03ad\u03b1 \u03ba\u03bf\u03bc\u03bc\u03ac\u03c4\u03b9\u03b1 \u03c3\u03c4\u03bf \u03b3\u03b5\u03bd\u03b5\u03c4\u03b9\u03ba\u03cc \u03c0\u03b1\u03b6\u03bb \u03c4\u03bf\u03c5 Kleefstra<\/strong>.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\u03a4\u03bf \u03c0\u03c1\u03ce\u03c4\u03bf \u03b5\u03af\u03bd\u03b1\u03b9 \u03bc\u03b9\u03b1 \u03bd\u03ad\u03b1 frameshift \u03c0\u03b1\u03c1\u03b1\u03bb\u03bb\u03b1\u03b3\u03ae \u03c4\u03bf\u03c5 <em>EHMT1<\/em>.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\u03a4\u03bf \u03b4\u03b5\u03cd\u03c4\u03b5\u03c1\u03bf \u03b5\u03af\u03bd\u03b1\u03b9 \u03bc\u03b9\u03b1 \u03b5\u03be\u03b1\u03b9\u03c1\u03b5\u03c4\u03b9\u03ba\u03ac \u03bc\u03b9\u03ba\u03c1\u03ae \u03bc\u03b5\u03c1\u03b9\u03ba\u03ae \u03b4\u03b9\u03b1\u03b3\u03c1\u03b1\u03c6\u03ae \u03c4\u03bf\u03c5 \u03b3\u03bf\u03bd\u03b9\u03b4\u03af\u03bf\u03c5 \u2014 \u03bc\u03cc\u03bb\u03b9\u03c2 11 kb \u2014 \u03b7 \u03bf\u03c0\u03bf\u03af\u03b1, \u03c3\u03cd\u03bc\u03c6\u03c9\u03bd\u03b1 \u03bc\u03b5 \u03c4\u03bf\u03c5\u03c2 \u03c3\u03c5\u03b3\u03b3\u03c1\u03b1\u03c6\u03b5\u03af\u03c2, \u03ae\u03c4\u03b1\u03bd \u03b7 \u03bc\u03b9\u03ba\u03c1\u03cc\u03c4\u03b5\u03c1\u03b7 \u03c4\u03bf\u03c5 \u03b5\u03af\u03b4\u03bf\u03c5\u03c2 \u03c4\u03b7\u03c2 \u03c0\u03bf\u03c5 \u03b5\u03af\u03c7\u03b5 \u03c0\u03b5\u03c1\u03b9\u03b3\u03c1\u03b1\u03c6\u03b5\u03af \u03bc\u03b5 CMA \u03bc\u03ad\u03c7\u03c1\u03b9 \u03c4\u03b7 \u03c3\u03c4\u03b9\u03b3\u03bc\u03ae \u03c4\u03b7\u03c2 \u03b4\u03b7\u03bc\u03bf\u03c3\u03af\u03b5\u03c5\u03c3\u03b7\u03c2.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\u03a0\u03b1\u03c1\u03ac\u03bb\u03bb\u03b7\u03bb\u03b1, \u03bf\u03b9 \u03b4\u03cd\u03bf \u03c0\u03b5\u03c1\u03b9\u03c0\u03c4\u03ce\u03c3\u03b5\u03b9\u03c2 \u03ba\u03ac\u03bd\u03bf\u03c5\u03bd \u03bf\u03c1\u03b1\u03c4\u03cc \u03ad\u03bd\u03b1 \u03b1\u03c0\u03cc \u03c4\u03b1 \u03c3\u03b7\u03bc\u03b1\u03bd\u03c4\u03b9\u03ba\u03cc\u03c4\u03b5\u03c1\u03b1 \u03bc\u03b7\u03bd\u03cd\u03bc\u03b1\u03c4\u03b1 \u03c4\u03b7\u03c2 \u03c3\u03cd\u03b3\u03c7\u03c1\u03bf\u03bd\u03b7\u03c2 \u03ad\u03c1\u03b5\u03c5\u03bd\u03b1\u03c2 \u03c3\u03c4\u03bf Kleefstra:<\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>\u03a4\u03bf KLEFS1 \u03b4\u03b5\u03bd \u03b5\u03af\u03bd\u03b1\u03b9 \u03bc\u03af\u03b1 \u03ba\u03bb\u03b9\u03bd\u03b9\u03ba\u03ac \u03bf\u03bc\u03bf\u03b9\u03cc\u03bc\u03bf\u03c1\u03c6\u03b7 \u03ba\u03b1\u03c4\u03ac\u03c3\u03c4\u03b1\u03c3\u03b7.<\/strong><\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\u03a4\u03bf \u03c6\u03ac\u03c3\u03bc\u03b1 \u03bc\u03c0\u03bf\u03c1\u03b5\u03af \u03bd\u03b1 \u03b5\u03ba\u03c4\u03b5\u03af\u03bd\u03b5\u03c4\u03b1\u03b9 \u03b1\u03c0\u03cc \u03c3\u03bf\u03b2\u03b1\u03c1\u03cc\u03c4\u03b5\u03c1\u03b5\u03c2 \u03bd\u03b5\u03c5\u03c1\u03bf\u03b1\u03bd\u03b1\u03c0\u03c4\u03c5\u03be\u03b9\u03b1\u03ba\u03ad\u03c2 \u03ba\u03b1\u03b9 \u03c3\u03c5\u03bc\u03c0\u03b5\u03c1\u03b9\u03c6\u03bf\u03c1\u03b9\u03ba\u03ad\u03c2 \u03b4\u03c5\u03c3\u03ba\u03bf\u03bb\u03af\u03b5\u03c2 \u03bc\u03ad\u03c7\u03c1\u03b9 \u03c3\u03b1\u03c6\u03ce\u03c2 \u03b7\u03c0\u03b9\u03cc\u03c4\u03b5\u03c1\u03b5\u03c2 \u03bc\u03bf\u03c1\u03c6\u03ad\u03c2, \u03ba\u03b1\u03b9 \u03b7 \u03bb\u03b5\u03c0\u03c4\u03bf\u03bc\u03b5\u03c1\u03ae\u03c2 \u03bc\u03b5\u03bb\u03ad\u03c4\u03b7 \u03c4\u03bf\u03c5 \u03c3\u03c5\u03b3\u03ba\u03b5\u03ba\u03c1\u03b9\u03bc\u03ad\u03bd\u03bf\u03c5 \u03b3\u03b5\u03bd\u03b5\u03c4\u03b9\u03ba\u03bf\u03cd \u03bc\u03b7\u03c7\u03b1\u03bd\u03b9\u03c3\u03bc\u03bf\u03cd \u03ba\u03ac\u03b8\u03b5 \u03b1\u03c3\u03b8\u03b5\u03bd\u03bf\u03cd\u03c2 \u03b1\u03c1\u03c7\u03af\u03b6\u03b5\u03b9 \u03bd\u03b1 \u03bc\u03b1\u03c2 \u03b2\u03bf\u03b7\u03b8\u03ac \u03bd\u03b1 \u03ba\u03b1\u03c4\u03b1\u03bd\u03bf\u03bf\u03cd\u03bc\u03b5 \u03ba\u03b1\u03bb\u03cd\u03c4\u03b5\u03c1\u03b1 \u03b1\u03c5\u03c4\u03ae \u03c4\u03b7 \u03b4\u03b9\u03b1\u03c6\u03bf\u03c1\u03bf\u03c0\u03bf\u03af\u03b7\u03c3\u03b7.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\u0393\u03b9\u03b1 \u03c4\u03b9\u03c2 \u03bf\u03b9\u03ba\u03bf\u03b3\u03ad\u03bd\u03b5\u03b9\u03b5\u03c2, \u03b1\u03c5\u03c4\u03cc \u03c3\u03b7\u03bc\u03b1\u03af\u03bd\u03b5\u03b9 \u03ba\u03ac\u03c4\u03b9 \u03b5\u03be\u03af\u03c3\u03bf\u03c5 \u03c3\u03b7\u03bc\u03b1\u03bd\u03c4\u03b9\u03ba\u03cc: <strong>\u03b7 \u03b4\u03b9\u03ac\u03b3\u03bd\u03c9\u03c3\u03b7 Kleefstra \u03c0\u03b5\u03c1\u03b9\u03b3\u03c1\u03ac\u03c6\u03b5\u03b9 \u03c4\u03b7\u03bd \u03b1\u03b9\u03c4\u03af\u03b1, \u03b1\u03bb\u03bb\u03ac \u03b4\u03b5\u03bd \u03b3\u03c1\u03ac\u03c6\u03b5\u03b9 \u03b1\u03c0\u03cc \u03bc\u03cc\u03bd\u03b7 \u03c4\u03b7\u03c2 \u03bf\u03bb\u03cc\u03ba\u03bb\u03b7\u03c1\u03b7 \u03c4\u03b7\u03bd \u03b9\u03c3\u03c4\u03bf\u03c1\u03af\u03b1 \u03c4\u03bf\u03c5 \u03c0\u03b1\u03b9\u03b4\u03b9\u03bf\u03cd<\/strong>.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\u0393\u03b9\u03b1 \u03c4\u03bf\u03c5\u03c2 \u03b5\u03c1\u03b5\u03c5\u03bd\u03b7\u03c4\u03ad\u03c2 \u03ba\u03b1\u03b9 \u03c4\u03bf\u03c5\u03c2 \u03ba\u03bb\u03b9\u03bd\u03b9\u03ba\u03bf\u03cd\u03c2, \u03ba\u03ac\u03b8\u03b5 \u03bd\u03ad\u03b1 \u03ba\u03b1\u03bb\u03ac \u03c7\u03b1\u03c1\u03b1\u03ba\u03c4\u03b7\u03c1\u03b9\u03c3\u03bc\u03ad\u03bd\u03b7 \u03c0\u03b1\u03c1\u03b1\u03bb\u03bb\u03b1\u03b3\u03ae \u03c4\u03bf\u03c5 <em>EHMT1<\/em> \u03b2\u03bf\u03b7\u03b8\u03ac \u03bd\u03b1 \u03b4\u03b7\u03bc\u03b9\u03bf\u03c5\u03c1\u03b3\u03b7\u03b8\u03b5\u03af \u03ad\u03bd\u03b1\u03c2 \u03b1\u03ba\u03c1\u03b9\u03b2\u03ad\u03c3\u03c4\u03b5\u03c1\u03bf\u03c2 \u03c7\u03ac\u03c1\u03c4\u03b7\u03c2 \u03c4\u03bf\u03c5 \u03b3\u03bf\u03bd\u03b9\u03b4\u03af\u03bf\u03c5: \u03c0\u03bf\u03b9\u03b1 \u03c4\u03bc\u03ae\u03bc\u03b1\u03c4\u03b1 \u03c4\u03b7\u03c2 \u03c0\u03c1\u03c9\u03c4\u03b5\u0390\u03bd\u03b7\u03c2 \u03b5\u03af\u03bd\u03b1\u03b9 \u03ba\u03c1\u03af\u03c3\u03b9\u03bc\u03b1, \u03c0\u03bf\u03b9\u03bf\u03b9 \u03b4\u03b9\u03b1\u03c6\u03bf\u03c1\u03b5\u03c4\u03b9\u03ba\u03bf\u03af \u03bc\u03bf\u03c1\u03b9\u03b1\u03ba\u03bf\u03af \u03bc\u03b7\u03c7\u03b1\u03bd\u03b9\u03c3\u03bc\u03bf\u03af \u03bf\u03b4\u03b7\u03b3\u03bf\u03cd\u03bd \u03c3\u03b5 KLEFS1 \u03ba\u03b1\u03b9 \u03ba\u03b1\u03c4\u03ac \u03c0\u03cc\u03c3\u03bf \u03b1\u03c5\u03c4\u03bf\u03af \u03c3\u03c5\u03bd\u03b4\u03ad\u03bf\u03bd\u03c4\u03b1\u03b9 \u03bc\u03b5 \u03b4\u03b9\u03b1\u03c6\u03bf\u03c1\u03b5\u03c4\u03b9\u03ba\u03ac \u03ba\u03bb\u03b9\u03bd\u03b9\u03ba\u03ac \u03c7\u03b1\u03c1\u03b1\u03ba\u03c4\u03b7\u03c1\u03b9\u03c3\u03c4\u03b9\u03ba\u03ac.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\u039a\u03b1\u03b9 \u03b3\u03b9\u03b1 \u03c4\u03b7\u03bd \u03b5\u03bb\u03bb\u03b7\u03bd\u03b9\u03ba\u03ae \u03ba\u03bf\u03b9\u03bd\u03cc\u03c4\u03b7\u03c4\u03b1 \u03c4\u03bf\u03c5 Kleefstra, \u03b7 \u03b5\u03c1\u03b3\u03b1\u03c3\u03af\u03b1 \u03ad\u03c7\u03b5\u03b9 \u03bc\u03b9\u03b1 \u03b5\u03c0\u03b9\u03c0\u03bb\u03ad\u03bf\u03bd \u03b1\u03be\u03af\u03b1: \u03b1\u03c0\u03bf\u03c4\u03b5\u03bb\u03b5\u03af <strong>\u03b5\u03bb\u03bb\u03b7\u03bd\u03b9\u03ba\u03ae \u03c3\u03c5\u03bc\u03b2\u03bf\u03bb\u03ae \u03c3\u03c4\u03b7 \u03b4\u03b9\u03b5\u03b8\u03bd\u03ae \u03c0\u03c1\u03bf\u03c3\u03c0\u03ac\u03b8\u03b5\u03b9\u03b1 \u03c7\u03b1\u03c1\u03c4\u03bf\u03b3\u03c1\u03ac\u03c6\u03b7\u03c3\u03b7\u03c2 \u03c4\u03bf\u03c5 \u03b3\u03b5\u03bd\u03b5\u03c4\u03b9\u03ba\u03bf\u03cd \u03ba\u03b1\u03b9 \u03ba\u03bb\u03b9\u03bd\u03b9\u03ba\u03bf\u03cd \u03c6\u03ac\u03c3\u03bc\u03b1\u03c4\u03bf\u03c2 \u03c4\u03bf\u03c5 \u03c3\u03c5\u03bd\u03b4\u03c1\u03cc\u03bc\u03bf\u03c5<\/strong>, \u03bc\u03b5 \u03c3\u03c5\u03bd\u03b5\u03c1\u03b3\u03b1\u03c3\u03af\u03b1 \u03c0\u03b1\u03bd\u03b5\u03c0\u03b9\u03c3\u03c4\u03b7\u03bc\u03b9\u03b1\u03ba\u03ce\u03bd, \u03bd\u03bf\u03c3\u03bf\u03ba\u03bf\u03bc\u03b5\u03b9\u03b1\u03ba\u03ce\u03bd \u03ba\u03b1\u03b9 \u03b5\u03c1\u03b3\u03b1\u03c3\u03c4\u03b7\u03c1\u03b9\u03b1\u03ba\u03ce\u03bd \u03bf\u03bc\u03ac\u03b4\u03c9\u03bd \u03b1\u03c0\u03cc \u03c4\u03b7\u03bd \u0391\u03b8\u03ae\u03bd\u03b1 \u03ba\u03b1\u03b9 \u03c4\u03b7 \u039b\u03ac\u03c1\u03b9\u03c3\u03b1.<\/p>\n<\/div><\/div>\n\n\n\n<div class=\"wp-block-group study-source\"><div class=\"wp-block-group__inner-container is-layout-constrained wp-block-group-is-layout-constrained\">\n<h2 class=\"wp-block-heading\">\u03a0\u03b7\u03b3\u03ad\u03c2 \u03ba\u03b1\u03b9 \u03c3\u03c7\u03b5\u03c4\u03b9\u03ba\u03ae \u03b2\u03b9\u03b2\u03bb\u03b9\u03bf\u03b3\u03c1\u03b1\u03c6\u03af\u03b1<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>Tzetis M, Mitrakos A, Papathanasiou I, Koute V, Kosma K, Pons R, Michoula A, Grivea I, Tsezou A.<\/strong> <em>A Novel Frameshift Variant and a Partial EHMT1 Microdeletion in Kleefstra Syndrome 1 Patients Resulting in Variable Phenotypic Severity and Literature Review.<\/em> Genes. 2025;16(5):521. doi:10.3390\/genes16050521.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>Rots D, Bouman A, Yamada A, et al.<\/strong> <em>Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome.<\/em> American Journal of Human Genetics. 2024;111(8):1605\u20131625. doi:10.1016\/j.ajhg.2024.06.008.<\/p>\n<\/div><\/div>\n<\/div><\/div>\n","protected":false},"excerpt":{"rendered":"<p>Two children with the same diagnosis can have a very different course. In Kleefstra syndrome...<\/p>","protected":false},"author":1,"featured_media":2471,"comment_status":"closed","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"_coblocks_attr":"","_coblocks_dimensions":"","_coblocks_responsive_height":"","_coblocks_accordion_ie_support":"","footnotes":""},"categories":[9],"tags":[142,129,36,122,134,137,37,130,135,124,133,132,138,131,141,139,136,140,123,97],"class_list":["post-2211","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-research","tag-chromosomal-microarray","tag-clinical-genetics","tag-ehmt1","tag-exome-sequencing","tag-frameshift-variant","tag-genotype-phenotype","tag-kleefstra-syndrome","tag-klefs1","tag-microdeletion","tag-124","tag-133","tag-132","tag-138","tag-131","tag-141","tag-139","tag---ehmt1","tag-140","tag-123","tag--kleefstra"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v28.6 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ 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