{"id":17090,"date":"2026-01-21T06:23:04","date_gmt":"2026-01-21T06:23:04","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/gene\/?post_type=genetic-screening&#038;p=17090"},"modified":"2026-01-21T06:23:04","modified_gmt":"2026-01-21T06:23:04","slug":"5q14-3-deletion-distal-syndrome","status":"publish","type":"genetic-screening","link":"https:\/\/www.hiro-clinic.or.jp\/gene\/genetic-screening\/5q14-3-deletion-distal-syndrome\/","title":{"rendered":"5q14.3 deletion (distal) syndrome"},"content":{"rendered":"\n<h2 class=\"wp-block-heading\"><strong>\u5225\u540d\u30fb\u95a2\u9023\u75be\u60a3\u540d<\/strong><\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li>5q14.3\u6b20\u5931\u75c7\u5019\u7fa4<\/li>\n\n\n\n<li>5q14.3\u5fae\u7d30\u6b20\u5931\u75c7\u5019\u7fa4\uff085q14.3 microdeletion syndrome\uff09<\/li>\n\n\n\n<li>5q14.3\u30e2\u30ce\u30bd\u30df\u30fc\uff08Monosomy 5q14.3\uff09<\/li>\n\n\n\n<li>MEF2C\u30cf\u30d7\u30ed\u4e0d\u5168\u75c7\u5019\u7fa4\uff08MEF2C haploinsufficiency syndrome\uff09\n<ul class=\"wp-block-list\">\n<li>\u203b\u672c\u75be\u60a3\u306e\u672c\u8cea\u7684\u306a\u539f\u56e0\u306f<em>MEF2C<\/em>\u907a\u4f1d\u5b50\u306e\u6b20\u5931\u3067\u3042\u308b\u305f\u3081\u3001\u73fe\u5728\u306f\u3053\u306e\u540d\u79f0\u304c\u6700\u3082\u533b\u5b66\u7684\u306b\u6b63\u78ba\u3067\u3042\u308a\u3001\u4e16\u754c\u7684\u306b\u7d71\u4e00\u3055\u308c\u3064\u3064\u3042\u308b\u540d\u79f0\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li>MEF2C\u95a2\u9023\u795e\u7d4c\u767a\u9054\u75c7\uff08MEF2C-related neurodevelopmental disorder\uff09<\/li>\n\n\n\n<li>\u30ec\u30c3\u30c8\u69d8\u75c7\u5019\u7fa4\uff08Rett-like syndrome\uff09\n<ul class=\"wp-block-list\">\n<li>\u203b\u75c7\u72b6\uff08\u7279\u306b\u624b\u306e\u52d5\u304d\u3084\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u969c\u5bb3\uff09\u304c\u30ec\u30c3\u30c8\u75c7\u5019\u7fa4\u306b\u9177\u4f3c\u3057\u3066\u3044\u308b\u305f\u3081\u3001\u6b74\u53f2\u7684\u306b\u3053\u3046\u547c\u3070\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u5bfe\u8c61\u67d3\u8272\u4f53\u9818\u57df<\/strong><\/h2>\n\n\n\n<p><strong>5\u756a\u67d3\u8272\u4f53 \u9577\u8155\uff08q\uff0914.3\u9818\u57df<\/strong><\/p>\n\n\n\n<p>\u672c\u75be\u60a3\u306f\u3001\u30d2\u30c8\u306e5\u756a\u67d3\u8272\u4f53\u306e\u9577\u8155\uff08q\u30a2\u30fc\u30e0\uff09\u306e\u4e2d\u9593\u4ed8\u8fd1\u306b\u3042\u308b\u300c14.3\u300d\u3068\u547c\u3070\u308c\u308b\u30d0\u30f3\u30c9\u9818\u57df\u306b\u304a\u3044\u3066\u3001DNA\u914d\u5217\u306e\u4e00\u90e8\u304c\u6b20\u5931\u3059\u308b\u3053\u3068\uff08\u30b3\u30d4\u30fc\u6570\u304c1\u3064\u306b\u306a\u308b\uff1a\u30cf\u30d7\u30ed\u4e0d\u5168\uff09\u306b\u3088\u3063\u3066\u751f\u3058\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3010\u30b2\u30ce\u30e0\u4e0a\u306e\u8a73\u7d30\u3068\u30af\u30ea\u30c6\u30a3\u30ab\u30eb\u30ea\u30fc\u30b8\u30e7\u30f3\u3011<\/p>\n\n\n\n<p>5q14.3\u9818\u57df\u306e\u6b20\u5931\u30b5\u30a4\u30ba\u306f\u60a3\u8005\u3055\u3093\u306b\u3088\u3063\u3066\u7570\u306a\u308a\u3001\u6570\u767e\u30ad\u30ed\u30d9\u30fc\u30b9\uff08kb\uff09\u304b\u3089\u6570\u30e1\u30ac\u30d9\u30fc\u30b9\uff08Mb\uff09\u307e\u3067\u69d8\u3005\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u304b\u3064\u3066\u306f\u300c5q14\u6b20\u5931\u300d\u3068\u3057\u3066\u3072\u3068\u307e\u3068\u3081\u306b\u3055\u308c\u3066\u3044\u307e\u3057\u305f\u304c\u3001\u7814\u7a76\u304c\u9032\u307f\u3001\u3088\u308a\u4e2d\u5fc3\u306b\u8fd1\u3044\u300c\u8fd1\u4f4d\uff08proximal\uff09\u6b20\u5931\u300d\u3068\u3001\u672b\u7aef\u306b\u8fd1\u3044\u300c\u9060\u4f4d\uff08distal\uff09\u6b20\u5931\u300d\u3067\u306f\u75c7\u72b6\u304c\u7570\u306a\u308b\u3053\u3068\u304c\u5206\u304b\u3063\u3066\u304d\u307e\u3057\u305f\u3002<\/p>\n\n\n\n<p>\u672c\u75be\u60a3\uff08distal deletion\uff09\u306b\u304a\u3044\u3066\u3001\u91cd\u7be4\u306a\u795e\u7d4c\u75c7\u72b6\u3092\u5f15\u304d\u8d77\u3053\u3059\u539f\u56e0\u3068\u306a\u308b\u6c7a\u5b9a\u7684\u306a\u907a\u4f1d\u5b50\uff08\u30af\u30ea\u30c6\u30a3\u30ab\u30eb\u30ea\u30fc\u30b8\u30e7\u30f3\uff09\u306f\u3001MEF2C (Myocyte Enhancer Factor 2C) \u907a\u4f1d\u5b50\u3067\u3059\u3002<\/p>\n\n\n\n<p><strong>\u3010\u6700\u91cd\u8981\u907a\u4f1d\u5b50\uff1aMEF2C\u306e\u5f79\u5272\u3011<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><em>MEF2C<\/em>\u306f\u3001\u8133\u306e\u767a\u751f\u521d\u671f\u306b\u304a\u3044\u3066\u3001\u795e\u7d4c\u7d30\u80de\uff08\u30cb\u30e5\u30fc\u30ed\u30f3\uff09\u304c\u6b63\u3057\u3044\u5834\u6240\u306b\u79fb\u52d5\u3057\u3001\u9069\u5207\u306a\u5f62\u306b\u5909\u5316\u3057\u3001\u4ed6\u306e\u795e\u7d4c\u7d30\u80de\u3068\u30cd\u30c3\u30c8\u30ef\u30fc\u30af\uff08\u30b7\u30ca\u30d7\u30b9\uff09\u3092\u4f5c\u308b\u305f\u3081\u306b\u4e0d\u53ef\u6b20\u306a\u300c\u8ee2\u5199\u56e0\u5b50\u300d\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u7279\u306b\u3001\u8208\u596e\u6027\u30b7\u30ca\u30d7\u30b9\u3068\u6291\u5236\u6027\u30b7\u30ca\u30d7\u30b9\u306e\u30d0\u30e9\u30f3\u30b9\u8abf\u6574\u306b\u6df1\u304f\u95a2\u308f\u3063\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u3053\u306e\u907a\u4f1d\u5b50\u304c\u534a\u5206\uff08\u30cf\u30d7\u30ed\u4e0d\u5168\uff09\u306b\u306a\u308b\u3068\u3001\u8133\u306e\u914d\u7dda\u304c\u672a\u719f\u306a\u307e\u307e\u3068\u306a\u308a\u3001\u91cd\u5ea6\u306e\u77e5\u7684\u969c\u5bb3\u3084\u3001\u8133\u306e\u904e\u5270\u8208\u596e\uff08\u3066\u3093\u304b\u3093\uff09\u304c\u5f15\u304d\u8d77\u3053\u3055\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u767a\u751f\u983b\u5ea6<\/strong><\/h2>\n\n\n\n<p><strong>\u6975\u3081\u3066\u7a00\uff08Ultra-rare\uff09<\/strong><\/p>\n\n\n\n<p>\u6b63\u78ba\u306a\u767a\u751f\u983b\u5ea6\u306f\u78ba\u7acb\u3055\u308c\u3066\u3044\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u4e16\u754c\u7684\u306a\u533b\u5b66\u6587\u732e\u306b\u304a\u3051\u308b\u8a73\u7d30\u306a\u75c7\u4f8b\u5831\u544a\u6570\u306f\u3001\u6570\u767e\u4f8b\u898f\u6a21\u306b\u3068\u3069\u307e\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3057\u304b\u3057\u3001\u3053\u308c\u306f\u300c\u767a\u751f\u3057\u3066\u3044\u306a\u3044\u300d\u306e\u3067\u306f\u306a\u304f\u3001\u4ee5\u4e0b\u306e\u3088\u3046\u306a\u7406\u7531\u306b\u3088\u308b**\u300c\u904e\u5c11\u8a3a\u65ad\u300d**\u3067\u3042\u308b\u53ef\u80fd\u6027\u304c\u9ad8\u3044\u3067\u3059\u3002<\/p>\n\n\n\n<ol class=\"wp-block-list\">\n<li><strong>\u691c\u67fb\u306e\u58c1:<\/strong> \u4e00\u822c\u7684\u306aG\u30d0\u30f3\u30c9\u67d3\u8272\u4f53\u691c\u67fb\u3067\u306f\u898b\u9003\u3055\u308c\u308b\u5fae\u7d30\u306a\u6b20\u5931\u3067\u3042\u308a\u3001\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u67d3\u8272\u4f53\u691c\u67fb\uff08CMA\uff09\u304c\u5fc5\u9808\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u30ec\u30c3\u30c8\u75c7\u5019\u7fa4\u3068\u306e\u6df7\u540c: \u75c7\u72b6\u304c\u4f3c\u3066\u3044\u308b\u305f\u3081\u3001\u907a\u4f1d\u5b50\u691c\u67fb\u3092\u884c\u308f\u306a\u3044\u307e\u307e\u300c\u975e\u5178\u578b\u7684\u30ec\u30c3\u30c8\u75c7\u5019\u7fa4\u300d\u3068\u8a3a\u65ad\u3055\u308c\u3066\u3044\u308b\u30b1\u30fc\u30b9\u304c\u5b58\u5728\u3059\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<br>\u6027\u5225\u306b\u3088\u308b\u5dee\u306f\u306a\u304f\u3001\u7537\u5150\u306b\u3082\u5973\u5150\u306b\u3082\u767a\u751f\u3057\u307e\u3059\uff08\u30ec\u30c3\u30c8\u75c7\u5019\u7fa4\u304c\u5973\u5150\u306b\u591a\u3044\u306e\u3068\u306f\u5bfe\u7167\u7684\u3067\u3059\uff09\u3002<\/li>\n<\/ol>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u81e8\u5e8a\u7684\u7279\u5fb4\uff08\u75c7\u72b6\uff09<\/strong><\/h2>\n\n\n\n<p>5q14.3 deletion (distal) syndrome\u306e\u75c7\u72b6\u306f\u3001\u300c\u91cd\u5ea6\u306e\u77e5\u7684\u969c\u5bb3\u300d\u300c\u96e3\u6cbb\u6027\u3066\u3093\u304b\u3093\u300d\u300c\u30ec\u30c3\u30c8\u75c7\u5019\u7fa4\u69d8\u306e\u884c\u52d5\u300d\u3001\u305d\u3057\u3066**\u300c\u7b4b\u7dca\u5f35\u4f4e\u4e0b\u300d**\u304c\u4e2d\u6838\u7684\u306a\u7279\u5fb4\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u8eab\u4f53\u7684\u306a\u5947\u5f62\u306f\u76ee\u7acb\u305f\u306a\u3044\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u304c\u3001\u795e\u7d4c\u5b66\u7684\u306a\u75c7\u72b6\u304c\u975e\u5e38\u306b\u9855\u8457\u3067\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u795e\u7d4c\u767a\u9054\u30fb\u8a8d\u77e5\u6a5f\u80fd<\/strong><\/p>\n\n\n\n<p>\u307b\u307c\u5168\u4f8b\u3067\u3001\u91cd\u5ea6\u306e\u767a\u9054\u3078\u306e\u5f71\u97ff\u304c\u8a8d\u3081\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u91cd\u5ea6\u306e\u7cbe\u795e\u904b\u52d5\u767a\u9054\u9045\u6ede\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u9996\u3059\u308f\u308a\u3001\u304a\u5ea7\u308a\u3001\u6b69\u884c\u958b\u59cb\u306a\u3069\u306e\u904b\u52d5\u767a\u9054\u30de\u30a4\u30eb\u30b9\u30c8\u30fc\u30f3\u304c\u5927\u5e45\u306b\u9045\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u6b69\u884c\u3092\u7372\u5f97\u3067\u304d\u308b\u304a\u5b50\u3055\u3093\u3082\u3044\u307e\u3059\u304c\u3001\u5931\u8abf\u6027\uff08\u3075\u3089\u3064\u304d\uff09\u3092\u4f34\u3046\u3053\u3068\u304c\u591a\u304f\u3001\u4ecb\u52a9\u304c\u5fc5\u8981\u306a\u5834\u5408\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u91cd\u5ea6\u306e\u77e5\u7684\u969c\u5bb3\uff08Severe ID\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u60a3\u8005\u3055\u3093\u306e\u591a\u304f\u306f\u91cd\u5ea6\u306e\u77e5\u7684\u969c\u5bb3\u3092\u4f34\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u767a\u8a9e\u306e\u6b20\u5982\uff08Absent speech\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>\u6700\u3082\u9855\u8457\u306a\u7279\u5fb4\u306e\u4e00\u3064<\/strong>\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u751f\u6daf\u3092\u901a\u3058\u3066\u6709\u610f\u5473\u8a9e\uff08\u610f\u5473\u306e\u3042\u308b\u8a00\u8449\uff09\u304c\u51fa\u306a\u3044\uff08Non-verbal\uff09\u3001\u3042\u308b\u3044\u306f\u6570\u8a9e\u306e\u5358\u8a9e\u306e\u307f\u3067\u3042\u308b\u30b1\u30fc\u30b9\u304c\u5927\u534a\u3092\u5360\u3081\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u305f\u3060\u3057\u3001\u8a00\u8449\u306f\u8a71\u305b\u306a\u304f\u3066\u3082\u3001\u76ee\u7dda\u3084\u8868\u60c5\u3001\u7279\u6709\u306e\u58f0\u3067\u611f\u60c5\u3092\u8868\u73fe\u3059\u308b\u3053\u3068\u306f\u53ef\u80fd\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u7b4b\u7dca\u5f35\u4f4e\u4e0b\uff08Hypotonia\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u4e73\u5e7c\u5150\u671f\u306b\u4f53\u304c\u975e\u5e38\u306b\u67d4\u3089\u304b\u304f\uff08\u30d5\u30ed\u30c3\u30d4\u30fc\u30a4\u30f3\u30d5\u30a1\u30f3\u30c8\uff09\u3001\u54fa\u4e73\u529b\u304c\u5f31\u304b\u3063\u305f\u308a\u3001\u62b1\u3063\u3053\u3057\u305f\u6642\u306b\u3050\u306b\u3083\u308a\u3068\u3057\u305f\u308a\u3057\u307e\u3059\u3002\u6210\u9577\u3068\u3068\u3082\u306b\u8efd\u6e1b\u3059\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u304c\u3001\u4f53\u5e79\u306e\u5f31\u3055\u306f\u6b8b\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u3066\u3093\u304b\u3093\uff08Epilepsy\uff09<\/strong><\/p>\n\n\n\n<p>\u3054\u5bb6\u65cf\u306b\u3068\u3063\u3066\u3001\u65e5\u5e38\u751f\u6d3b\u3067\u6700\u3082\u7ba1\u7406\u304c\u5927\u5909\u3067\u3001\u533b\u5b66\u7684\u4ecb\u5165\u304c\u5fc5\u8981\u306a\u75c7\u72b6\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u9ad8\u983b\u5ea6:<\/strong> \u60a3\u8005\u3055\u3093\u306e**\u7d0480\u301c90%**\u306b\u3066\u3093\u304b\u3093\u767a\u4f5c\u304c\u898b\u3089\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u767a\u75c7\u6642\u671f:<\/strong> \u975e\u5e38\u306b\u65e9\u671f\u3001\u591a\u304f\u306f<strong>\u751f\u5f8c5\u30f6\u6708\u301c1\u6b73\u534a\u9803<\/strong>\u306b\u767a\u75c7\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u767a\u4f5c\u30bf\u30a4\u30d7:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u30df\u30aa\u30af\u30ed\u30cb\u30fc\u767a\u4f5c\uff08\u30d4\u30af\u30c3\u3068\u3059\u308b\uff09\u3001\u5168\u822c\u5f37\u76f4\u9593\u4ee3\u767a\u4f5c\uff08\u5927\u767a\u4f5c\uff09\u3001\u6b20\u795e\u767a\u4f5c\u3001\u8131\u529b\u767a\u4f5c\u306a\u3069\u591a\u5f69\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u767a\u71b1\u304c\u8a98\u5f15\u3068\u306a\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u96e3\u6cbb\u6027:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8907\u6570\u306e\u6297\u3066\u3093\u304b\u3093\u85ac\u3092\u4f7f\u7528\u3057\u3066\u3082\u767a\u4f5c\u304c\u6b62\u307e\u308a\u306b\u304f\u3044\uff08\u85ac\u5264\u62b5\u6297\u6027\uff09\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u8133\u6ce2\u691c\u67fb\u3067\u306f\u3001\u7279\u5fb4\u7684\u306a\u7570\u5e38\u6ce2\uff08\u9ad8\u632f\u5e45\u5f90\u6ce2\u306a\u3069\uff09\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u884c\u52d5\u7279\u6027\uff08Rett-like features\uff09<\/strong><\/p>\n\n\n\n<p>\u30ec\u30c3\u30c8\u75c7\u5019\u7fa4\uff08MECP2\u7570\u5e38\uff09\u3068\u975e\u5e38\u306b\u3088\u304f\u4f3c\u305f\u884c\u52d5\u304c\u898b\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5e38\u540c\u884c\u52d5\uff08Stereotypic movements\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>\u624b\u3092\u6d17\u3046\u3088\u3046\u306a\u52d5\u4f5c\uff08Hand washing\uff09<\/strong>\u3001\u624b\u3092\u53e3\u306b\u6301\u3063\u3066\u3044\u304f\uff08Hand mouthing\uff09\u3001\u624b\u3092\u53e9\u304f\uff08Hand clapping\uff09\u306a\u3069\u306e\u7e70\u308a\u8fd4\u3057\u306e\u52d5\u4f5c\u304c\u7279\u5fb4\u7684\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u4f53\u3092\u524d\u5f8c\u306b\u63fa\u3089\u3059\uff08\u30ed\u30c3\u30ad\u30f3\u30b0\uff09\u52d5\u4f5c\u3082\u898b\u3089\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u305d\u306e\u4ed6\u306e\u884c\u52d5:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u6b6f\u304e\u3057\u308a\uff08Bruxism\uff09\u3002<\/li>\n\n\n\n<li>\u8996\u7dda\u304c\u5408\u3044\u306b\u304f\u3044\uff08Poor eye contact\uff09\u3001\u3042\u308b\u3044\u306f\u3058\u3063\u3068\u898b\u3064\u3081\u308b\u884c\u52d5\u3002<\/li>\n\n\n\n<li>\u9ad8\u3044\u75db\u899a\u95be\u5024\uff08\u75db\u307f\u306b\u920d\u611f\uff09\u3002<\/li>\n\n\n\n<li>\u7761\u7720\u969c\u5bb3\uff08\u4e2d\u9014\u899a\u9192\u3001\u65e9\u671d\u899a\u9192\uff09\u3002<\/li>\n\n\n\n<li>\u7a81\u7136\u306e\u7b11\u3044\u3084\u53eb\u3073\u58f0\u306a\u3069\u3001\u611f\u60c5\u306e\u8d77\u4f0f\u304c\u6fc0\u3057\u3044\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>4. \u8eab\u4f53\u7684\u7279\u5fb4\u30fb\u9854\u8c8c<\/strong><\/p>\n\n\n\n<p>\u300c\u7279\u7570\u7684\u9854\u8c8c\u300d\u3068\u3055\u308c\u307e\u3059\u304c\u3001\u305d\u306e\u7279\u5fb4\u306f\u975e\u5e38\u306b\u7e4a\u7d30\u3067\u3001\u5c02\u9580\u533b\u3067\u306a\u3044\u3068\u5224\u5225\u306f\u96e3\u3057\u3044\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u9854\u8c8c:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u9ad8\u304f\u5e83\u3044\u524d\u982d\u90e8\uff08\u304a\u3067\u3053\u304c\u5e83\u3044\uff09\u3002<\/li>\n\n\n\n<li>\u30a2\u30fc\u30c1\u72b6\u306e\u7709\u6bdb\u3002<\/li>\n\n\n\n<li>\u6df1\u304f\u304f\u307c\u3093\u3060\u76ee\uff08Deep-set eyes\uff09\u3002<\/li>\n\n\n\n<li>\u77ed\u3044\u9f3b\u3001\u4e0a\u5411\u304d\u306e\u9f3b\u5b54\u3002<\/li>\n\n\n\n<li>\u4eba\u4e2d\uff08\u9f3b\u306e\u4e0b\uff09\u304c\u77ed\u3044\u3002<\/li>\n\n\n\n<li><strong>\u30c6\u30f3\u30c8\u72b6\u306e\u4e0a\u5507\uff08Tented upper lip\uff09\uff1a<\/strong> \u4e0a\u5507\u306e\u5c71\u304c\u5c16\u3063\u3066\u3044\u308b\u5f62\u3002<\/li>\n\n\n\n<li>\u5c0f\u984e\u75c7\uff08\u3042\u3054\u304c\u5c0f\u3055\u3044\uff09\u3001\u53e3\u304c\u958b\u3044\u3066\u3044\u308b\u3053\u3068\u304c\u591a\u3044\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u8133\u753b\u50cf\u6240\u898b\uff08MRI\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8133\u6881\u306e\u4f4e\u5f62\u6210\u307e\u305f\u306f\u6b20\u640d\u3002<\/li>\n\n\n\n<li>\u9ac4\u9798\u5316\u9045\u5ef6\uff08\u8133\u306e\u6210\u719f\u306e\u9045\u308c\uff09\u3002<\/li>\n\n\n\n<li>\u5927\u8133\u76ae\u8cea\u306e\u840e\u7e2e\u3084\u8133\u5ba4\u62e1\u5927\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>5. \u305d\u306e\u4ed6\u306e\u5408\u4f75\u75c7<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u6d88\u5316\u5668:<\/strong> \u80c3\u98df\u9053\u9006\u6d41\u75c7\uff08GERD\uff09\u3001\u91cd\u5ea6\u306e\u4fbf\u79d8\u3001\u54fa\u4e73\u56f0\u96e3\u3002<\/li>\n\n\n\n<li><strong>\u773c\u79d1:<\/strong> \u659c\u8996\u3001\u76ae\u8cea\u76f2\uff08\u76ee\u306f\u898b\u3048\u3066\u3044\u308b\u304c\u8133\u3067\u8a8d\u8b58\u3067\u304d\u306a\u3044\uff09\u306e\u7591\u3044\u3002<\/li>\n\n\n\n<li><strong>\u9aa8\u683c:<\/strong> \u5074\u5f2f\u75c7\u3001\u95a2\u7bc0\u306e\u7de9\u3055\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u539f\u56e0<\/strong><\/h2>\n\n\n\n<p><strong>5\u756a\u67d3\u8272\u4f53\u9577\u8155\uff085q14.3\uff09\u306b\u304a\u3051\u308b\u5fae\u7d30\u6b20\u5931\u306b\u3088\u308b\u3001MEF2C\u907a\u4f1d\u5b50\u306e\u30cf\u30d7\u30ed\u4e0d\u5168<\/strong>\u304c\u539f\u56e0\u3067\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u767a\u751f\u6a5f\u5e8f<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>De novo\uff08\u65b0\u751f\u7a81\u7136\u5909\u7570\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>5q14.3\u6b20\u5931\u75c7\u5019\u7fa4\u306e<strong>\u307b\u307c\u5168\u4f8b<\/strong>\u306f\u3001\u4e21\u89aa\u304b\u3089\u306e\u907a\u4f1d\u3067\u306f\u306a\u304f\u3001\u53d7\u7cbe\u306e\u904e\u7a0b\uff08\u7cbe\u5b50\u3084\u5375\u5b50\u304c\u4f5c\u3089\u308c\u308b\u6642\u3001\u307e\u305f\u306f\u53d7\u7cbe\u76f4\u5f8c\uff09\u3067\u5076\u7136\u751f\u3058\u305f\u7a81\u7136\u5909\u7570\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u89aa\u306e\u5e74\u9f62\u3084\u751f\u6d3b\u7fd2\u6163\u304c\u539f\u56e0\u3067\u8d77\u3053\u308b\u3082\u306e\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/li>\n\n\n\n<li>\u3053\u306e\u5834\u5408\u3001\u4e21\u89aa\u306e\u67d3\u8272\u4f53\u306f\u6b63\u5e38\u3067\u3042\u308a\u3001\u6b21\u5b50\u3078\u306e\u518d\u767a\u30ea\u30b9\u30af\u306f\u975e\u5e38\u306b\u4f4e\u3044\uff081%\u672a\u6e80\uff09\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>2. MEF2C\u907a\u4f1d\u5b50\u4ee5\u5916\u306e\u8981\u56e0<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u6b20\u5931\u7bc4\u56f2\u304c\u5e83\u3044\u5834\u5408\u3001<em>MEF2C<\/em>\u4ee5\u5916\u306e\u96a3\u63a5\u3059\u308b\u907a\u4f1d\u5b50\u3082\u4e00\u7dd2\u306b\u5931\u308f\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u3053\u308c\u306b\u3088\u308a\u3001\u75c7\u72b6\u306e\u91cd\u75c7\u5ea6\u3084\u30d0\u30ea\u30a8\u30fc\u30b7\u30e7\u30f3\uff08\u8eab\u4f53\u7684\u306a\u5408\u4f75\u75c7\u306e\u6709\u7121\u306a\u3069\uff09\u306b\u500b\u4eba\u5dee\u304c\u751f\u307e\u308c\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u203b\u9006\u306b\u3001\u67d3\u8272\u4f53\u306e\u6b20\u5931\u3067\u306f\u306a\u304f\u3001<em>MEF2C<\/em>\u907a\u4f1d\u5b50\u306e\u4e2d\u306e\u5c0f\u3055\u306a\u70b9\u5909\u7570\u3060\u3051\u3067\u3082\u3001\u5168\u304f\u540c\u3058\u75c7\u72b6\uff08MEF2C\u95a2\u9023\u969c\u5bb3\uff09\u304c\u5f15\u304d\u8d77\u3053\u3055\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u8a3a\u65ad\u65b9\u6cd5<\/strong><\/h2>\n\n\n\n<p>\u300c\u91cd\u5ea6\u306e\u767a\u9054\u9045\u6ede\u300d\u300c\u3066\u3093\u304b\u3093\u300d\u300c\u5e38\u540c\u884c\u52d5\u300d\u304c\u3042\u308a\u3001\u30ec\u30c3\u30c8\u75c7\u5019\u7fa4\u306e\u907a\u4f1d\u5b50\u691c\u67fb\uff08MECP2\uff09\u304c\u9670\u6027\u3060\u3063\u305f\u5834\u5408\u306b\u5f37\u304f\u7591\u308f\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u67d3\u8272\u4f53\u691c\u67fb\uff08CMA\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u672c\u75c7\u5019\u7fa4\u306e\u8a3a\u65ad\u306b\u304a\u3051\u308b**\u30b4\u30fc\u30eb\u30c9\u30b9\u30bf\u30f3\u30c0\u30fc\u30c9\uff08\u7b2c\u4e00\u9078\u629e\uff09**\u306e\u691c\u67fb\u3067\u3059\u3002<\/li>\n\n\n\n<li>5q14.3\u9818\u57df\u306e\u5fae\u7d30\u306a\u6b20\u5931\u3092\u691c\u51fa\u3057\u3001\u305d\u306e\u7bc4\u56f2\u306b<em>MEF2C<\/em>\u907a\u4f1d\u5b50\u304c\u542b\u307e\u308c\u3066\u3044\u308b\u304b\u3092\u6b63\u78ba\u306b\u7279\u5b9a\u3067\u304d\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u5f93\u6765\u306eG\u30d0\u30f3\u30c9\u691c\u67fb\u3067\u306f\u898b\u9003\u3055\u308c\u308b\u3053\u3068\u304c\u591a\u3044\u305f\u3081\u3001CMA\u304c\u5fc5\u9808\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u907a\u4f1d\u5b50\u30d1\u30cd\u30eb\u691c\u67fb \/ \u5168\u30a8\u30af\u30bd\u30fc\u30e0\u89e3\u6790\uff08WES\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u67d3\u8272\u4f53\u6b20\u5931\u3067\u306f\u306a\u304f\u3001<em>MEF2C<\/em>\u907a\u4f1d\u5b50\u306e\u70b9\u5909\u7570\u3092\u691c\u51fa\u3059\u308b\u305f\u3081\u306b\u884c\u308f\u308c\u307e\u3059\u3002\u8fd1\u5e74\u306fCMA\u3068\u4e26\u884c\u3057\u3066\u3001\u3042\u308b\u3044\u306fCMA\u3067\u7570\u5e38\u304c\u306a\u304b\u3063\u305f\u5834\u5408\u306b\u884c\u308f\u308c\u308b\u3053\u3068\u304c\u5897\u3048\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u8133\u6ce2\u691c\u67fb\uff08EEG\uff09 \/ \u982d\u90e8MRI:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u3066\u3093\u304b\u3093\u306e\u8a3a\u65ad\u3084\u8133\u306e\u69cb\u9020\u7570\u5e38\u3092\u78ba\u8a8d\u3059\u308b\u305f\u3081\u306b\u5fc5\u9808\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u6cbb\u7642\u65b9\u6cd5<\/strong><\/h2>\n\n\n\n<p>\u6b20\u5931\u3057\u305f\u907a\u4f1d\u5b50\u3092\u4fee\u5fa9\u3059\u308b\u6839\u672c\u7684\u306a\u6cbb\u7642\u6cd5\u306f\u3001\u73fe\u6642\u70b9\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u6cbb\u7642\u306f\u3001\u3066\u3093\u304b\u3093\u767a\u4f5c\u306e\u30b3\u30f3\u30c8\u30ed\u30fc\u30eb\u3068\u3001\u751f\u6d3b\u306e\u8cea\uff08QOL\uff09\u3092\u9ad8\u3081\u308b\u305f\u3081\u306e\u5305\u62ec\u7684\u306a\u7642\u80b2\u30fb\u30b1\u30a2\u304c\u4e2d\u5fc3\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u3066\u3093\u304b\u3093\u306e\u7ba1\u7406\uff08\u6700\u512a\u5148\u8ab2\u984c\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u85ac\u7269\u7642\u6cd5:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u30d0\u30eb\u30d7\u30ed\u9178\uff08VPA\uff09\u3001\u30ec\u30d9\u30c1\u30e9\u30bb\u30bf\u30e0\uff08LEV\uff09\u3001\u30e9\u30e2\u30c8\u30ea\u30ae\u30f3\uff08LTG\uff09\u3001\u30af\u30ed\u30d0\u30b6\u30e0\uff08CLB\uff09\u3001\u30c8\u30d4\u30e9\u30de\u30fc\u30c8\uff08TPM\uff09\u306a\u3069\u306e\u6297\u3066\u3093\u304b\u3093\u85ac\u304c\u4f7f\u7528\u3055\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u5358\u5264\u3067\u306f\u30b3\u30f3\u30c8\u30ed\u30fc\u30eb\u304c\u96e3\u3057\u3044\u5834\u5408\u304c\u591a\u304f\u3001\u591a\u5264\u4f75\u7528\u7642\u6cd5\u304c\u5fc5\u8981\u306b\u306a\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u5c02\u9580\u533b\uff08\u5c0f\u5150\u795e\u7d4c\u79d1\u533b\uff09\u306b\u3088\u308b\u304d\u3081\u7d30\u3084\u304b\u306a\u8abf\u6574\u304c\u5fc5\u8981\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u305d\u306e\u4ed6\u306e\u6cbb\u7642:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u85ac\u7269\u7642\u6cd5\u3067\u52b9\u679c\u4e0d\u5341\u5206\u306a\u5834\u5408\u3001\u30b1\u30c8\u30f3\u98df\u7642\u6cd5\u3084\u8ff7\u8d70\u795e\u7d4c\u523a\u6fc0\u7642\u6cd5\uff08VNS\uff09\u306a\u3069\u304c\u691c\u8a0e\u3055\u308c\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u767a\u9054\u30fb\u7642\u80b2\u7684\u652f\u63f4<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u7406\u5b66\u7642\u6cd5\uff08PT\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u7b4b\u7dca\u5f35\u4f4e\u4e0b\u3084\u904b\u52d5\u5931\u8abf\u306b\u5bfe\u3057\u3001\u4f53\u5e79\u3092\u652f\u3048\u308b\u8a13\u7df4\u3084\u6b69\u884c\u8a13\u7df4\u3092\u884c\u3044\u307e\u3059\u3002\u5ea7\u4f4d\u4fdd\u6301\u88c5\u7f6e\u3084\u8eca\u6905\u5b50\u306a\u3069\u306e\u88dc\u88c5\u5177\u306e\u8abf\u6574\u3082\u91cd\u8981\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u4f5c\u696d\u7642\u6cd5\uff08OT\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u624b\u6307\u306e\u5e38\u540c\u884c\u52d5\u304c\u3042\u308b\u4e2d\u3067\u3001\u5c11\u3057\u3067\u3082\u624b\u3092\u4f7f\u3048\u308b\u3088\u3046\u306b\u904a\u3073\u3092\u901a\u3058\u305f\u8a13\u7df4\u3092\u884c\u3044\u307e\u3059\u3002\u307e\u305f\u3001\u611f\u899a\u7d71\u5408\u7642\u6cd5\u3092\u53d6\u308a\u5165\u308c\u308b\u3053\u3068\u3067\u3001\u60c5\u7dd2\u306e\u5b89\u5b9a\u3092\u56f3\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u8a00\u8a9e\u8074\u899a\u7642\u6cd5\uff08ST\uff09 \/ \u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u652f\u63f4:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u767a\u8a9e\u304c\u56f0\u96e3\u306a\u305f\u3081\u3001**AAC\uff08\u88dc\u52a9\u4ee3\u66ff\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\uff09**\u306e\u5c0e\u5165\u304c\u9375\u3068\u306a\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u7d75\u30ab\u30fc\u30c9\u3001\u30b9\u30a4\u30c3\u30c1\u3001\u8996\u7dda\u5165\u529b\u88c5\u7f6e\u306a\u3069\u3092\u6d3b\u7528\u3057\u3001\u300c\u30a4\u30a8\u30b9\u30fb\u30ce\u30fc\u300d\u3084\u8981\u6c42\u3092\u4f1d\u3048\u308b\u624b\u6bb5\u3092\u78ba\u4fdd\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u6442\u98df\u6307\u5c0e:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u56a5\u4e0b\u6a5f\u80fd\u306b\u5408\u308f\u305b\u305f\u98df\u4e8b\u5f62\u614b\u306e\u8abf\u6574\u3084\u3001\u4ecb\u52a9\u65b9\u6cd5\u306e\u6307\u5c0e\u3092\u884c\u3044\u307e\u3059\u3002\u6804\u990a\u72b6\u614b\u304c\u60aa\u3044\u5834\u5408\u306f\u7d4c\u7ba1\u6804\u990a\uff08\u80c3\u308d\u3046\u306a\u3069\uff09\u3092\u691c\u8a0e\u3059\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u751f\u6d3b\u30fb\u884c\u52d5\u9762\u306e\u30b1\u30a2<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5e38\u540c\u884c\u52d5\u3078\u306e\u5bfe\u5fdc:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u624b\u3092\u53e9\u304f\u3001\u53e3\u306b\u5165\u308c\u308b\u306a\u3069\u306e\u884c\u52d5\u306f\u3001\u7121\u7406\u306b\u6b62\u3081\u3055\u305b\u308b\u3068\u30b9\u30c8\u30ec\u30b9\u306b\u306a\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u602a\u6211\uff08\u624b\u3092\u565b\u3093\u3067\u50b7\u306b\u306a\u308b\u306a\u3069\uff09\u304c\u306a\u3044\u9650\u308a\u3001\u3042\u308b\u7a0b\u5ea6\u8a31\u5bb9\u3059\u308b\u304b\u3001\u4ed6\u306e\u304a\u3082\u3061\u3083\u3092\u6301\u305f\u305b\u308b\u306a\u3069\u306e\u4ee3\u66ff\u884c\u52d5\u3078\u8a98\u5c0e\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u7761\u7720\u30b1\u30a2:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u7761\u7720\u969c\u5bb3\u304c\u3042\u308b\u5834\u5408\u3001\u751f\u6d3b\u30ea\u30ba\u30e0\u306e\u8abf\u6574\u3084\u30e1\u30e9\u30c8\u30cb\u30f3\u306e\u4f7f\u7528\u306a\u3069\u3092\u691c\u8a0e\u3057\u307e\u3059\u3002\u5bb6\u65cf\u306e\u4f11\u606f\u3092\u78ba\u4fdd\u3059\u308b\u3053\u3068\u3082\u91cd\u8981\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u4fbf\u79d8\u5bfe\u7b56:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u7de9\u4e0b\u5264\u3084\u6d63\u8178\u306a\u3069\u3067\u6392\u4fbf\u30b3\u30f3\u30c8\u30ed\u30fc\u30eb\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>4. \u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u75be\u60a3\u306e\u907a\u4f1d\u5b66\u7684\u80cc\u666f\u3084\u3001\u6b21\u5b50\u306e\u30ea\u30b9\u30af\u306b\u3064\u3044\u3066\u6b63\u78ba\u306a\u60c5\u5831\u3092\u5171\u6709\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u300c\u30ec\u30c3\u30c8\u75c7\u5019\u7fa4\u3067\u306f\u306a\u3044\u3051\u308c\u3069\u3001\u4f3c\u305f\u75c7\u72b6\u3092\u6301\u3064\u907a\u4f1d\u5b50\u75be\u60a3\u300d\u3068\u3044\u3046\u4f4d\u7f6e\u3065\u3051\u3092\u7406\u89e3\u3059\u308b\u3053\u3068\u3067\u3001\u4e88\u5f8c\u306e\u898b\u901a\u3057\u304c\u7acb\u3066\u3084\u3059\u304f\u306a\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u307e\u3068\u3081<\/strong><\/h2>\n\n\n\n<p>5q14.3 deletion (distal) syndrome\uff08MEF2C\u95a2\u9023\u969c\u5bb3\uff09\u306f\u30015\u756a\u67d3\u8272\u4f53\u306e\u4e00\u90e8\u3001\u7279\u306b\u8133\u306e\u767a\u9054\u306b\u4e0d\u53ef\u6b20\u306aMEF2C\u907a\u4f1d\u5b50\u304c\u6b20\u5931\u3059\u308b\u3053\u3068\u3067\u8d77\u3053\u308b\u5e0c\u5c11\u306a\u75be\u60a3\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u75be\u60a3\u306e\u304a\u5b50\u3055\u3093\u306f\u3001\u8a00\u8449\u3092\u8a71\u3059\u3053\u3068\u304c\u96e3\u3057\u304b\u3063\u305f\u308a\u3001\u7279\u5fb4\u7684\u306a\u624b\u306e\u52d5\u304d\uff08\u624b\u3092\u5408\u308f\u305b\u308b\u3001\u53e3\u306b\u5165\u308c\u308b\u306a\u3069\uff09\u3092\u3057\u305f\u308a\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u307e\u305f\u3001\u591a\u304f\u306e\u3054\u5bb6\u65cf\u304c\u3001\u751f\u5f8c\u307e\u3082\u306a\u304f\u304b\u3089\u59cb\u307e\u308b\u300c\u3066\u3093\u304b\u3093\u767a\u4f5c\u300d\u306e\u30b3\u30f3\u30c8\u30ed\u30fc\u30eb\u306b\u5411\u304d\u5408\u3063\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u8a3a\u65ad\u3092\u53d7\u3051\u305f\u6642\u3001\u300c\u91cd\u5ea6\u306e\u9045\u308c\u300d\u3084\u300c\u96e3\u6cbb\u6027\u3066\u3093\u304b\u3093\u300d\u3068\u3044\u3046\u8a00\u8449\u306b\u3001\u5c06\u6765\u3078\u306e\u4e0d\u5b89\u3092\u611f\u3058\u3089\u308c\u305f\u304b\u3082\u3057\u308c\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u78ba\u304b\u306b\u3001\u3053\u306e\u75c5\u6c17\u306f\u751f\u6daf\u306b\u308f\u305f\u308b\u30b5\u30dd\u30fc\u30c8\u304c\u5fc5\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3057\u304b\u3057\u3001\u8a00\u8449\u306f\u8a71\u305b\u306a\u304f\u3066\u3082\u3001\u304a\u5b50\u3055\u3093\u306f\u8c4a\u304b\u306a\u611f\u60c5\u3092\u6301\u3063\u3066\u3044\u307e\u3059\u3002\u5b09\u3057\u3044\u6642\u306b\u306f\u5168\u8eab\u3067\u559c\u3073\u3092\u8868\u73fe\u3057\u3001\u5927\u597d\u304d\u306a\u4eba\u306e\u58f0\u306b\u306f\u5b89\u5fc3\u3057\u305f\u8868\u60c5\u3092\u898b\u305b\u3066\u304f\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3066\u3093\u304b\u3093\u306e\u6cbb\u7642\u306f\u6839\u6c17\u304c\u5fc5\u8981\u3067\u3059\u304c\u3001\u65b0\u3057\u3044\u304a\u85ac\u3084\u6cbb\u7642\u6cd5\u306e\u9078\u629e\u80a2\u3082\u5897\u3048\u3066\u304d\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u307e\u305f\u3001\u624b\u3092\u4f7f\u3048\u306a\u3044\u3088\u3046\u306b\u898b\u3048\u3066\u3082\u3001\u30b9\u30a4\u30c3\u30c1\u3092\u62bc\u3057\u3066\u304a\u3082\u3061\u3083\u3092\u52d5\u304b\u3057\u305f\u308a\u3001\u8996\u7dda\u3067\u610f\u601d\u3092\u4f1d\u3048\u305f\u308a\u3059\u308b\u529b\u3092\u6301\u3063\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u300c\u3067\u304d\u306a\u3044\u3053\u3068\u300d\u3067\u306f\u306a\u304f\u3001\u300c\u305d\u306e\u5b50\u306a\u308a\u306e\u8868\u73fe\u300d\u306b\u76ee\u3092\u5411\u3051\u308b\u3053\u3068\u3067\u3001\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u306e\u6249\u306f\u958b\u304b\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u5c0f\u5150\u795e\u7d4c\u5c02\u9580\u533b\u3001\u7642\u80b2\u30b9\u30bf\u30c3\u30d5\u3001\u305d\u3057\u3066\u540c\u3058\u60a9\u307f\u3092\u6301\u3064\u5bb6\u65cf\u4f1a\u306a\u3069\u3068\u3064\u306a\u304c\u308a\u3001\u30c1\u30fc\u30e0\u3067\u304a\u5b50\u3055\u3093\u306e\u6210\u9577\u3068\u7b11\u9854\u3092\u5b88\u3063\u3066\u3044\u304d\u307e\u3057\u3087\u3046\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u53c2\u8003\u6587\u732e<\/strong><\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>Le Meur, N., et al.<\/strong> (2010). <em>MEF2C haploinsufficiency caused by either microdeletion of the 5q14.3 region or mutation is responsible for severe mental retardation with stereotypic movements, epilepsy and\/or cerebral malformations.<\/em> Journal of Medical Genetics.\n<ul class=\"wp-block-list\">\n<li>(\u203b5q14.3\u6b20\u5931\u75c7\u5019\u7fa4\u306e\u539f\u56e0\u907a\u4f1d\u5b50\u304cMEF2C\u3067\u3042\u308b\u3053\u3068\u3092\u6c7a\u5b9a\u3065\u3051\u3001\u30ec\u30c3\u30c8\u69d8\u75c7\u72b6\u3084\u3066\u3093\u304b\u3093\u306a\u3069\u306e\u81e8\u5e8a\u7684\u7279\u5fb4\u3092\u8a73\u7d30\u306b\u5b9a\u7fa9\u3057\u305f\u8a18\u5ff5\u7891\u7684\u306a\u8ad6\u6587\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Zweier, M., et al.<\/strong> (2010). <em>Haploinsufficiency of MEF2C causes a syndrome of severe mental retardation and cerebrofacial features with a Rett-like phenotype.<\/em> American Journal of Human Genetics.\n<ul class=\"wp-block-list\">\n<li>(\u203bMEF2C\u5909\u7570\/\u6b20\u5931\u3092\u6301\u3064\u60a3\u8005\u306e\u9854\u8c8c\u3084\u8133\u753b\u50cf\u6240\u898b\u3092\u89e3\u6790\u3057\u3001\u30ec\u30c3\u30c8\u75c7\u5019\u7fa4\u3068\u306e\u9451\u5225\u70b9\u3084\u3001\u7279\u5fb4\u7684\u306a\u300c\u30c6\u30f3\u30c8\u72b6\u306e\u4e0a\u5507\u300d\u306a\u3069\u3092\u5831\u544a\u3057\u305f\u91cd\u8981\u6587\u732e\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Paciorkowski, A.R., et al.<\/strong> (2013). <em>MEF2C Haploinsufficiency Syndrome: Severe Neurodevelopmental Disorder with Episodic Movements and Epilepsy.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203b\u81e8\u5e8a\u75c7\u72b6\u306e\u81ea\u7136\u6b74\uff08\u5e74\u9f62\u306b\u3088\u308b\u5909\u5316\uff09\u3084\u3066\u3093\u304b\u3093\u306e\u767a\u4f5c\u578b\u306b\u3064\u3044\u3066\u8a73\u7d30\u306b\u691c\u8a0e\u3057\u3001\u300cMEF2C\u30cf\u30d7\u30ed\u4e0d\u5168\u75c7\u5019\u7fa4\u300d\u3068\u3057\u3066\u306e\u75be\u60a3\u6982\u5ff5\u3092\u78ba\u7acb\u3057\u305f\u7814\u7a76\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Novara, F., et al.<\/strong> (2010). <em>Deletions of 5q14.3 encompassing MEF2C but not RASA1 are associated with severe mental retardation and stereotypic movements.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203b5q14.3\u9818\u57df\u5185\u306e\u6b20\u5931\u7bc4\u56f2\u3068\u75c7\u72b6\u306e\u76f8\u95a2\uff08Genotype-Phenotype Correlation\uff09\u3092\u89e3\u6790\u3057\u3001MEF2C\u907a\u4f1d\u5b50\u306e\u91cd\u8981\u6027\u3092\u88cf\u4ed8\u3051\u305f\u6587\u732e\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Unique (Rare Chromosome Disorder Support Group)<\/strong>: <em>5q14.3 deletions including MEF2C<\/em> (2018).\n<ul class=\"wp-block-list\">\n<li>(\u203b\u60a3\u8005\u5bb6\u65cf\u5411\u3051\u306b\u3001\u3066\u3093\u304b\u3093\u306e\u7ba1\u7406\u3001\u98df\u4e8b\u306e\u5de5\u592b\u3001\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u652f\u63f4\uff08AAC\uff09\u306e\u91cd\u8981\u6027\u306a\u3069\u3092\u5e73\u6613\u306b\u307e\u3068\u3081\u305f\u30ac\u30a4\u30c9\u30d6\u30c3\u30af\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>GeneReviews\u00ae [Internet]<\/strong>: <em>MEF2C Haploinsufficiency Syndrome<\/em>. Initial Posting: 2018. <em>Authors: Rocha H, et al.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203b\u8a3a\u65ad\u57fa\u6e96\u3001\u6700\u65b0\u306e\u7ba1\u7406\u6307\u91dd\u3001\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u60c5\u5831\u3092\u7db2\u7f85\u3057\u305f\u3001\u81e8\u5e8a\u73fe\u5834\u3067\u6700\u3082\u4fe1\u983c\u3055\u308c\u308b\u30c7\u30fc\u30bf\u30d9\u30fc\u30b9\u3002)<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<style>\n.entry-content li {\n  text-indent: -1rem !important;\n}\n<\/style>\n<p>\u8a73\u3057\u304f\u306f <a href=\"https:\/\/www.hiro-clinic.or.jp\/gene\/clinic\/\">\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af\u5168\u56fd\u306e\u30af\u30ea\u30cb\u30c3\u30af\u4e00\u89a7<\/a> \u3092\u3054\u89a7\u304f\u3060\u3055\u3044\u3002<\/p>","protected":false},"featured_media":0,"template":"","class_list":["post-17090","genetic-screening","type-genetic-screening","status-publish","hentry"],"acf":[],"_links":{"self":[{"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/17090","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening"}],"about":[{"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/types\/genetic-screening"}],"version-history":[{"count":2,"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/17090\/revisions"}],"predecessor-version":[{"id":17092,"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/17090\/revisions\/17092"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/media?parent=17090"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}