{"id":136685,"date":"2026-09-08T12:23:08","date_gmt":"2026-09-08T03:23:08","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?post_type=genetic-diseases&#038;p=136685"},"modified":"2026-09-08T12:23:08","modified_gmt":"2026-09-08T03:23:08","slug":"neonatal-severe-encephalopathy-due-to-mecp2-mutations-mecp2","status":"publish","type":"genetic-diseases","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/neonatal-severe-encephalopathy-due-to-mecp2-mutations-mecp2\/","title":{"rendered":"MECP2\u5909\u7570\u306b\u3088\u308b\u65b0\u751f\u5150\u91cd\u75c7\u8133\u75c7"},"content":{"rendered":"\n<h2 class=\"wp-block-heading\">\u6982\u8981<\/h2>\n\n\n\n<p>MECP2\u5909\u7570\u306b\u3088\u308b\u65b0\u751f\u5150\u91cd\u75c7\u8133\u75c7\u306f\u3001<strong>\u7537\u306e\u5b50<\/strong>\u306b\u751f\u5f8c\u307e\u3082\u306a\u304f\u304b\u3089\u91cd\u3044\u8133\u306e\u75c7\u72b6\u304c\u73fe\u308c\u308b\u75c5\u6c17\u3067\u3059\u3002<strong>X\u9023\u9396<\/strong>\u3068\u3044\u3046\u5f62\u5f0f\u3067\u907a\u4f1d\u3057\u3001<strong>MECP2<\/strong> \u907a\u4f1d\u5b50\u306e\u5909\u5316\u304c\u539f\u56e0\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>\u540c\u3058 MECP2 \u907a\u4f1d\u5b50\u306e\u5909\u5316\u306f\u3001\u5973\u306e\u5b50\u3067\u306f\u30ec\u30c3\u30c8\u75c7\u5019\u7fa4\u3092\u5f15\u304d\u8d77\u3053\u3057\u307e\u3059<\/strong>\u3002\u7537\u306e\u5b50\u306fX\u67d3\u8272\u4f53\u30921\u672c\u3057\u304b\u6301\u305f\u306a\u3044\u305f\u3081\u3001\u75c7\u72b6\u304c\u306f\u308b\u304b\u306b\u91cd\u304f\u306a\u308a\u3001\u751f\u5f8c1\u301c2\u5e74\u4ee5\u5185\u306b\u547d\u306b\u304b\u304b\u308f\u308b\u3053\u3068\u304c\u591a\u3044\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u539f\u56e0<\/h2>\n\n\n\n<p><strong>MECP2<\/strong> \u907a\u4f1d\u5b50\u306f\u3001MeCP2\u3068\u3044\u3046\u305f\u3093\u3071\u304f\u8cea\u306e\u8a2d\u8a08\u56f3\u3067\u3059\u3002MeCP2\u306fDNA\u306e\u30e1\u30c1\u30eb\u5316\u3055\u308c\u305f\u90e8\u5206\u306b\u7d50\u5408\u3057\u3001\u591a\u304f\u306e\u907a\u4f1d\u5b50\u306e\u306f\u305f\u3089\u304d\u3092\u8abf\u7bc0\u3057\u3066\u3044\u307e\u3059\u3002\u3068\u304f\u306b\u795e\u7d4c\u7d30\u80de\u304c\u6210\u719f\u3057\u3001\u3064\u306a\u304c\u308a\u3092\u4f5c\u308b\u305f\u3081\u306b\u91cd\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<p><strong>MECP2<\/strong> \u306fX\u67d3\u8272\u4f53\u4e0a\u306b\u3042\u308a\u307e\u3059\u3002\u5973\u306e\u5b50\u306fX\u67d3\u8272\u4f53\u30922\u672c\u6301\u3064\u305f\u3081\u3001\u6b63\u5e38\u306a\u907a\u4f1d\u5b50\u304c\u306f\u305f\u3089\u304f\u7d30\u80de\u304c\u6b8b\u308a\u307e\u3059\u304c\uff08\u30ec\u30c3\u30c8\u75c7\u5019\u7fa4\uff09\u3001<strong>\u7537\u306e\u5b50\u306f1\u672c\u3057\u304b\u306a\u3044\u305f\u3081\u3001\u3059\u3079\u3066\u306e\u7d30\u80de\u304c\u5f71\u97ff\u3092\u53d7\u3051\u307e\u3059<\/strong>\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u75c7\u72b6<\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u751f\u5f8c\u307e\u3082\u306a\u304f\u304b\u3089\u306e<strong>\u8457\u3057\u3044\u7b4b\u7dca\u5f35\u306e\u4f4e\u4e0b<\/strong>\uff08\u3050\u3063\u305f\u308a\u3057\u3066\u3044\u308b\uff09<\/li>\n\n\n\n<li>\u54fa\u4e73\u306e\u56f0\u96e3\u3001\u4f53\u91cd\u304c\u5897\u3048\u306a\u3044<\/li>\n\n\n\n<li><strong>\u96e3\u6cbb\u6027\u306e\u3051\u3044\u308c\u3093<\/strong><\/li>\n\n\n\n<li>\u547c\u5438\u306e\u7570\u5e38\uff08\u7121\u547c\u5438\u3001\u4e0d\u898f\u5247\u306a\u547c\u5438\uff09<\/li>\n\n\n\n<li>\u904b\u52d5\u767a\u9054\u304c\u307b\u3068\u3093\u3069\u9032\u307e\u306a\u3044<\/li>\n\n\n\n<li>\u982d\u56f2\u306e\u5897\u52a0\u304c\u6b62\u307e\u308b\uff08\u5f8c\u5929\u6027\u5c0f\u982d\u75c7\uff09<\/li>\n\n\n\n<li>\u4e0d\u968f\u610f\u904b\u52d5\u3001\u56db\u80a2\u306e\u786c\u76f4<\/li>\n\n\n\n<li>\u591a\u304f\u306f\u751f\u5f8c1\u301c2\u5e74\u4ee5\u5185\u306b\u3001\u547c\u5438\u5668\u306e\u5408\u4f75\u75c7\u306a\u3069\u3067\u547d\u306b\u304b\u304b\u308f\u308a\u307e\u3059<\/li>\n\n\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\">\u691c\u67fb\u30fb\u8a3a\u65ad<\/h2>\n\n\n\n<p>\u65b0\u751f\u5150\u671f\u304b\u3089\u306e\u91cd\u3044\u8133\u75c7\u3067\u3001\u4ed6\u306e\u539f\u56e0\u304c\u898b\u3064\u304b\u3089\u306a\u3044\u7537\u5150\u3067\u306f\u3001\u3053\u306e\u75c5\u6c17\u3092\u8003\u3048\u307e\u3059\u3002<strong>MECP2<\/strong> \u907a\u4f1d\u5b50\u306e\u89e3\u6790\u306b\u3088\u3063\u3066\u78ba\u5b9a\u3057\u307e\u3059\u3002<strong>\u6bcd\u89aa\u304c\u4fdd\u56e0\u8005\u3067\u3042\u308b\u5834\u5408\u3068\u3001\u65b0\u305f\u306b\u751f\u3058\u305f\u5909\u7570\uff08de novo\uff09\u3067\u3042\u308b\u5834\u5408\u304c\u3042\u308a\u307e\u3059<\/strong>\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u6cbb\u7642<\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u6839\u672c\u7684\u306b\u6cbb\u3059\u65b9\u6cd5\u306f\u78ba\u7acb\u3057\u3066\u3044\u307e\u305b\u3093<\/strong><\/li>\n\n\n\n<li>\u6297\u3066\u3093\u304b\u3093\u85ac\u306b\u3088\u308b\u3051\u3044\u308c\u3093\u306e\u30b3\u30f3\u30c8\u30ed\u30fc\u30eb<\/li>\n\n\n\n<li>\u547c\u5438\u306e\u30b5\u30dd\u30fc\u30c8\uff08\u4eba\u5de5\u547c\u5438\u5668\u3092\u542b\u3080\uff09<\/li>\n\n\n\n<li>\u7d4c\u7ba1\u6804\u990a\u306b\u3088\u308b\u6804\u990a\u306e\u7ba1\u7406<\/li>\n\n\n\n<li>\u7406\u5b66\u7642\u6cd5\u3001\u4f53\u4f4d\u306e\u7ba1\u7406\u306b\u3088\u308b\u5408\u4f75\u75c7\u306e\u4e88\u9632<\/li>\n\n\n\n<li><strong>\u3054\u5bb6\u65cf\u3078\u306e\u652f\u63f4\u3068\u3001\u7de9\u548c\u30b1\u30a2\u3092\u542b\u3081\u305f\u8a71\u3057\u5408\u3044<\/strong><\/li>\n\n\n\n<li>\u6b21\u306e\u304a\u5b50\u3055\u307e\u306b\u3064\u3044\u3066\u306e\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0<\/li>\n\n\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\">\u3053\u306e\u75be\u60a3\u306f\u691c\u67fb\u3067\u308f\u304b\u308a\u307e\u3059<\/h2>\n\n\n\n<p>\u3053\u306e\u75be\u60a3\u306f\u3001\u539f\u56e0\u3068\u306a\u308b <strong>MECP2<\/strong> \u907a\u4f1d\u5b50\u3092\u8abf\u3079\u308b\u3053\u3068\u3067\u3001\u767a\u75c7\u524d\u3084\u51fa\u751f\u524d\u306b\u898b\u3064\u3051\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30afNIPT\u3067\u306f\u6b21\u306e2\u3064\u306e\u691c\u67fb\u3092\u3054\u7528\u610f\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">\u30a8\u30af\u30bd\u30fc\u30e0\u89e3\u6790\u3092\u7528\u3044\u305f\u691c\u67fb\uff081,200\u7a2e\u985e\u4ee5\u4e0a\uff09<\/h3>\n\n\n\n<p>\u30a8\u30af\u30bd\u30fc\u30e0\u89e3\u6790\u306f\u3001\u907a\u4f1d\u5b50\u306e\u3046\u3061\u305f\u3093\u3071\u304f\u8cea\u306e\u8a2d\u8a08\u56f3\u306b\u3042\u305f\u308b\u90e8\u5206\uff08\u30a8\u30af\u30bd\u30f3\uff09\u3092\u307e\u3068\u3081\u3066\u8aad\u307f\u53d6\u308b\u691c\u67fb\u3067\u3059\u3002\u3053\u306e\u89e3\u6790\u3092\u884c\u3063\u305f\u3046\u3048\u3067\u3001<strong>MECP2<\/strong> \u907a\u4f1d\u5b50\u3092\u542b\u3080<strong>1,200\u7a2e\u985e\u4ee5\u4e0a<\/strong>\u306e\u907a\u4f1d\u5b50\u3092\u5bfe\u8c61\u306b\u8abf\u3079\u3001<strong>\u3053\u306e\u75be\u60a3\u306e\u539f\u56e0\u3068\u306a\u308b\u5909\u5316\u3092\u691c\u51fa\u3059\u308b\u3053\u3068\u304c\u53ef\u80fd\u3067\u3059<\/strong>\u3002\u56fd\u5185\u306e\u691c\u67fb\u6240\u3067\u884c\u3044\u3001\u7d50\u679c\u307e\u3067\u306e\u671f\u9593\u306f5\u9031\u9593\u301c7\u9031\u9593\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">\u30ad\u30e3\u30ea\u30a2\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u30c6\u30b9\u30c8\uff08228\u7a2e\u985e\uff09<\/h3>\n\n\n\n<p>\u3053\u306e\u75be\u60a3\u306fX\u9023\u9396\u3067\u907a\u4f1d\u3057\u307e\u3059\u3002\u304a\u6bcd\u3055\u307e\u304c\u4fdd\u56e0\u8005\u306e\u5834\u5408\u3001<strong>\u606f\u5b50\u3055\u3093\u306e2\u5206\u306e1\u304c\u767a\u75c7\u3057\u3001\u5a18\u3055\u3093\u306e2\u5206\u306e1\u304c\u4fdd\u56e0\u8005<\/strong>\u306b\u306a\u308a\u307e\u3059\u3002\u30ad\u30e3\u30ea\u30a2\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u30c6\u30b9\u30c8\u3067\u306f\u3001\u304a\u6bcd\u3055\u307e\u304c\u4fdd\u56e0\u8005\u304b\u3069\u3046\u304b\u3092\u982c\u306e\u5185\u5074\u306e\u7c98\u819c\u304b\u3089\u8abf\u3079\u3001<strong>\u304a\u5b50\u3055\u307e\u306b\u53d7\u3051\u7d99\u304c\u308c\u308b\u53ef\u80fd\u6027\u3092\u3001\u598a\u5a20\u524d\u3084\u51fa\u751f\u524d\u306b\u4e88\u6e2c\u3059\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059<\/strong>\u3002<\/p>\n\n\n\n<p>\u691c\u67fb\u306e\u5185\u5bb9\u30fb\u8cbb\u7528\u30fb\u7d50\u679c\u307e\u3067\u306e\u671f\u9593\u306f <a href=\"\/nipt\/nipt\/autosomal-recessive-inheritance\/\">\u30ad\u30e3\u30ea\u30a2\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u30c6\u30b9\u30c8228<\/a> \u306e\u30da\u30fc\u30b8\u3092\u3054\u89a7\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u5c02\u9580\u7684\u306a\u89e3\u8aac<\/h2>\n\n\n\n<p>MECP2\u95a2\u9023\u306e\u65b0\u751f\u5150\u91cd\u75c7\u8133\u75c7\u306f\u3001<strong>MECP2<\/strong>\uff08Xq28\uff09\u306e\u5909\u7570\u3092\u6709\u3059\u308b\u7537\u5150\u306b\u307f\u3089\u308c\u308b\u8868\u73fe\u578b\u3067\u3042\u308b\u3002\u5973\u5150\u306e\u30ec\u30c3\u30c8\u75c7\u5019\u7fa4\u3068\u540c\u4e00\u907a\u4f1d\u5b50\u3067\u3042\u308a\u306a\u304c\u3089\u3001\u81e8\u5e8a\u50cf\u306f\u5927\u304d\u304f\u7570\u306a\u308b\u3002<\/p>\n\n\n\n<p>\u30ec\u30c3\u30c8\u75c7\u5019\u7fa4\u306e\u5973\u5150\u306f<strong>X\u67d3\u8272\u4f53\u4e0d\u6d3b\u5316\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/mosaicism\/\">\u30e2\u30b6\u30a4\u30af<\/a><\/strong>\u306b\u3088\u308a\u3001\u6b63\u5e38MeCP2\u3092\u767a\u73fe\u3059\u308b\u7d30\u80de\u304c\u7d04\u534a\u6570\u5b58\u5728\u3059\u308b\u305f\u3081\u3001\u751f\u5f8c6\u301c18\u304b\u6708\u307e\u3067\u306f\u6b63\u5e38\u767a\u9054\u3092\u793a\u3059\u3002\u4e00\u65b9\u3001<strong>\u534a\u63a5\u5408\u4f53\u306e\u7537\u5150\u3067\u306f\u5168\u7d30\u80de\u304cMeCP2\u3092\u6b20\u304f\u305f\u3081\u3001\u51fa\u751f\u76f4\u5f8c\u304b\u3089\u91cd\u5ea6\u306e\u8133\u75c7\u3092\u5448\u3057\u3001\u901a\u5e382\u6b73\u307e\u3067\u306b\u6b7b\u4ea1\u3059\u308b<\/strong>\u3002<\/p>\n\n\n\n<p>\u7537\u5150\u3067\u751f\u5b58\u53ef\u80fd\u306a MECP2 \u95a2\u9023\u75be\u60a3\u3068\u3057\u3066\u306f\u3001(1) \u4f53\u7d30\u80de<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/mosaicism\/\">\u30e2\u30b6\u30a4\u30af<\/a>\u3001(2) Klinefelter\u75c7\u5019\u7fa4\uff0847,XXY\uff09\u306e\u5408\u4f75\u3001(3) \u8efd\u75c7\u5909\u7570\uff08p.Ala140Val \u306a\u3069\u3001X\u9023\u9396<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u3068\u3057\u3066\u767a\u75c7\uff09\u304c\u3042\u308b\u3002<\/p>\n\n\n\n<p>\u5909\u7570\u306e\u7531\u6765\u306f<strong>\u7d0499%\u304c\u7236\u7531\u6765\u306ede novo\u5909\u7570<\/strong>\u3068\u3055\u308c\u3001\u6bcd\u304c\u4fdd\u56e0\u8005\u3067\u3042\u308b\u5272\u5408\u306f\u4f4e\u3044\u3002\u305f\u3060\u3057\u6bcd\u4f53\u306e\u751f\u6b96\u7d30\u80de<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/mosaicism\/\">\u30e2\u30b6\u30a4\u30af<\/a>\u306e\u53ef\u80fd\u6027\u304c\u3042\u308b\u305f\u3081\u3001\u518d\u767a\u7387\u306f0\u3068\u306f\u8a00\u3048\u305a\u3001\u6b21\u5b50\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">\u51fa\u751f\u524d\u8a3a\u65ad<\/a>\u304c\u9078\u629e\u80a2\u3068\u306a\u308b\u3002\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u306b\u304a\u3044\u3066\u3053\u306e\u70b9\u306e\u8aac\u660e\u306f\u91cd\u8981\u3067\u3042\u308b\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u3088\u304f\u3042\u308b\u8cea\u554f<\/h2>\n\n\n\n<h3 class=\"wp-block-heading\">Q. \u30ec\u30c3\u30c8\u75c7\u5019\u7fa4\u3068\u540c\u3058\u75c5\u6c17\u3067\u3059\u304b\uff1f<\/h3>\n\n\n\n<p>A. \u539f\u56e0\u3068\u306a\u308b\u907a\u4f1d\u5b50\u306f\u540c\u3058 <strong>MECP2<\/strong> \u3067\u3059\u304c\u3001\u75c7\u72b6\u306e\u51fa\u65b9\u304c\u5927\u304d\u304f\u7570\u306a\u308a\u307e\u3059\u3002\u5973\u306e\u5b50\u3067\u306f\u30ec\u30c3\u30c8\u75c7\u5019\u7fa4\u3001\u7537\u306e\u5b50\u3067\u306f\u65b0\u751f\u5150\u671f\u304b\u3089\u306e\u91cd\u3044\u8133\u75c7\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">Q. \u306a\u305c\u7537\u306e\u5b50\u306e\u307b\u3046\u304c\u91cd\u3044\u306e\u3067\u3059\u304b\uff1f<\/h3>\n\n\n\n<p>A. <strong>MECP2<\/strong> \u306fX\u67d3\u8272\u4f53\u306b\u3042\u308a\u307e\u3059\u3002\u5973\u306e\u5b50\u306fX\u67d3\u8272\u4f53\u304c2\u672c\u3042\u308a\u6b63\u5e38\u306a\u907a\u4f1d\u5b50\u304c\u306f\u305f\u3089\u304f\u7d30\u80de\u304c\u6b8b\u308a\u307e\u3059\u304c\u3001\u7537\u306e\u5b50\u306f1\u672c\u3057\u304b\u306a\u3044\u305f\u3081\u3001\u3059\u3079\u3066\u306e\u7d30\u80de\u304c\u5f71\u97ff\u3092\u53d7\u3051\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">Q. \u6b21\u306e\u5b50\u3082\u540c\u3058\u75c5\u6c17\u306b\u306a\u308a\u307e\u3059\u304b\uff1f<\/h3>\n\n\n\n<p>A. \u591a\u304f\u306f\u65b0\u3057\u304f\u751f\u3058\u305f\u5909\u7570\uff08de novo\uff09\u3067\u3001\u6bcd\u89aa\u304c\u4fdd\u56e0\u8005\u3067\u3042\u308b\u5272\u5408\u306f\u4f4e\u3044\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u305f\u3060\u3057\u3001\u307e\u308c\u306b\u6bcd\u89aa\u306e\u5375\u5b50\u306b<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/mosaicism\/\">\u30e2\u30b6\u30a4\u30af<\/a>\u3068\u3057\u3066\u5b58\u5728\u3059\u308b\u3053\u3068\u304c\u3042\u308b\u305f\u3081\u3001\u6b21\u306e\u304a\u5b50\u3055\u307e\u306b\u3064\u3044\u3066\u306f\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3067\u3054\u76f8\u8ac7\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">Q. \u6cbb\u7642\u6cd5\u306f\u3042\u308a\u307e\u3059\u304b\uff1f<\/h3>\n\n\n\n<p>A. \u73fe\u5728\u306e\u3068\u3053\u308d\u3001\u6839\u672c\u7684\u306b\u6cbb\u3059\u6cbb\u7642\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u3051\u3044\u308c\u3093\u3084\u547c\u5438\u306e\u7ba1\u7406\u3001\u6804\u990a\u306e\u30b5\u30dd\u30fc\u30c8\u3092\u884c\u3044\u3001\u3054\u5bb6\u65cf\u3092\u542b\u3081\u305f\u652f\u63f4\u3092\u5927\u5207\u306b\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">Q. \u51fa\u751f\u524d\u306b\u8abf\u3079\u3089\u308c\u307e\u3059\u304b\uff1f<\/h3>\n\n\n\n<p>A. \u3054\u5bb6\u65cf\u306e\u5909\u7570\u304c\u5206\u304b\u3063\u3066\u3044\u308b\u5834\u5408\u306b\u306f\u3001\u6b21\u306e\u598a\u5a20\u3067<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">\u51fa\u751f\u524d\u8a3a\u65ad<\/a>\u3092\u691c\u8a0e\u3067\u304d\u307e\u3059\u3002\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3067\u3054\u76f8\u8ac7\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u53c2\u8003\u6587\u732e<\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Amir RE, Van den Veyver IB, Wan M, et al. Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. <em>Nat Genet<\/em>. 1999;23(2):185-188.<\/li>\n\n\n\n<li>Wan M, Lee SS, Zhang X, et al. Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots. <em>Am J Hum Genet<\/em>. 1999;65(6):1520-1529.<\/li>\n\n\n\n<li>Villard L. MECP2 mutations in males. <em>J Med Genet<\/em>. 2007;44(7):417-423.<\/li>\n\n\n\n<li>Neul JL, Kaufmann WE, Glaze DG, et al. Rett syndrome: revised diagnostic criteria and nomenclature. <em>Ann Neurol<\/em>. 2010;68(6):944-950.<\/li>\n\n\n\n<li>OMIM #300673 Mental retardation, X-linked, syndromic 13 \/ MECP2-related severe neonatal encephalopathy<\/li>\n\n\n<\/ul>\n","protected":false},"featured_media":0,"menu_order":0,"template":"page_gd.php","class_list":["post-136685","genetic-diseases","type-genetic-diseases","status-publish","hentry"],"acf":[],"_links":{"self":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/136685","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases"}],"about":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/types\/genetic-diseases"}],"version-history":[{"count":1,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/136685\/revisions"}],"predecessor-version":[{"id":137055,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/136685\/revisions\/137055"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=136685"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}