{"id":16811,"date":"2026-01-20T05:11:29","date_gmt":"2026-01-20T05:11:29","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/gene\/?post_type=genetic-screening&#038;p=16811"},"modified":"2026-01-20T05:11:29","modified_gmt":"2026-01-20T05:11:29","slug":"19p13-13-microdeletion-syndrome","status":"publish","type":"genetic-screening","link":"https:\/\/www.hiro-clinic.or.jp\/gene\/genetic-screening\/19p13-13-microdeletion-syndrome\/","title":{"rendered":"19p13.13 microdeletion 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>19p13.13\u5fae\u7d30\u6b20\u5931\u75c7\u5019\u7fa4<\/li>\n\n\n\n<li>19p13.13\u6b20\u5931\u75c7\u5019\u7fa4<\/li>\n\n\n\n<li>CACNA1A\u95a2\u9023\u6b20\u5931\u75c7\u5019\u7fa4\uff08CACNA1A-related deletion syndrome\uff09<\/li>\n\n\n\n<li>\u30de\u30e9\u30f3\u75c7\u5019\u7fa4\uff08Malan syndrome\uff09\u203b1<\/li>\n\n\n\n<li>\u5de8\u5927\u8133\u6881\u75c7\u5019\u7fa4\uff08Mega-corpus-callosum syndrome\uff09\u203b2<\/li>\n\n\n\n<li>19p13.13\u30e2\u30ce\u30bd\u30df\u30fc\uff08Monosomy 19p13.13\uff09<\/li>\n<\/ul>\n\n\n\n<p>\u203b\u75be\u60a3\u6982\u5ff5\u306e\u6574\u7406\uff1a<\/p>\n\n\n\n<p>19p13.13\u9818\u57df\u306b\u306f\u3001\u5358\u72ec\u3067\u75be\u60a3\u3092\u5f15\u304d\u8d77\u3053\u3059\u5f37\u529b\u306a\u907a\u4f1d\u5b50\u304c\u8907\u6570\u4e26\u3093\u3067\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<ol class=\"wp-block-list\">\n<li><strong>CACNA1A:<\/strong> \u6b20\u5931\u3059\u308b\u3068\u3001\u904b\u52d5\u5931\u8abf\u3084\u3066\u3093\u304b\u3093\u3001\u77e5\u7684\u969c\u5bb3\u3092\u5f15\u304d\u8d77\u3053\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>NFIX:<\/strong> \u6b20\u5931\u3059\u308b\u3068\u3001\u904e\u6210\u9577\u3084\u7279\u5fb4\u7684\u9854\u8c8c\u3092\u793a\u3059\u300c\u30de\u30e9\u30f3\u75c7\u5019\u7fa4\u300d\u3068\u306a\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>MAST1:<\/strong> \u6b20\u5931\u30fb\u5909\u7570\u306b\u3088\u308a\u300c\u5de8\u5927\u8133\u6881\u75c7\u5019\u7fa4\u300d\u3068\u306a\u308a\u307e\u3059\u3002<\/li>\n<\/ol>\n\n\n\n<p>\u300c19p13.13\u5fae\u7d30\u6b20\u5931\u75c7\u5019\u7fa4\u300d\u306f\u3001\u3053\u308c\u3089\u306e\u907a\u4f1d\u5b50\u306e\u3046\u30611\u3064\u3001\u3042\u308b\u3044\u306f\u8907\u6570\u304c\u307e\u3068\u3081\u3066\u6b20\u5931\u3059\u308b\u3053\u3068\u3067\u8d77\u3053\u308b**\u300c\u96a3\u63a5\u907a\u4f1d\u5b50\u75c7\u5019\u7fa4\u300d**\u3067\u3059\u3002\u305d\u306e\u305f\u3081\u3001\u6b20\u5931\u7bc4\u56f2\u306b\u3088\u3063\u3066\u75c7\u72b6\u306e\u51fa\u65b9\u304c\u5927\u304d\u304f\u7570\u306a\u308b\u306e\u304c\u7279\u5fb4\u3067\u3059\u3002<\/p>\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>19\u756a\u67d3\u8272\u4f53 \u77ed\u8155\uff08p\uff0913.13\u9818\u57df<\/strong><\/p>\n\n\n\n<p>\u672c\u75be\u60a3\u306f\u3001\u30d2\u30c8\u306e19\u756a\u67d3\u8272\u4f53\u306e\u77ed\u8155\uff08p\u30a2\u30fc\u30e0\uff09\u306b\u3042\u308b\u300c13.13\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\u91cd\u8981\u907a\u4f1d\u5b50\u3011<\/p>\n\n\n\n<p>19\u756a\u67d3\u8272\u4f53\u306f\u907a\u4f1d\u5b50\u5bc6\u5ea6\u304c\u975e\u5e38\u306b\u9ad8\u3044\u3053\u3068\u3067\u77e5\u3089\u308c\u3066\u3044\u307e\u3059\u304c\u3001\u7279\u306b\u3053\u306e\u300c13.13\u300d\u9818\u57df\u306f\u8133\u6a5f\u80fd\u306b\u3068\u3063\u3066\u6c7a\u5b9a\u7684\u306a\u5f79\u5272\u3092\u6301\u3064\u907a\u4f1d\u5b50\u304c\u5bc6\u96c6\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>CACNA1A (Calcium Voltage-Gated Channel Subunit Alpha1 A):<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>\u795e\u7d4c\u6a5f\u80fd\u306e\u8981\u3002<\/strong> \u8133\u306e\u795e\u7d4c\u7d30\u80de\u304c\u60c5\u5831\u3092\u4f1d\u3048\u308b\u305f\u3081\u306b\u5fc5\u8981\u306a\u300c\u30ab\u30eb\u30b7\u30a6\u30e0\u30a4\u30aa\u30f3\u30c1\u30e3\u30cd\u30eb\uff08P\/Q\u578b\uff09\u300d\u3092\u4f5c\u308b\u907a\u4f1d\u5b50\u3067\u3059\u3002\u5c0f\u8133\u306b\u591a\u304f\u5b58\u5728\u3057\u3001\u904b\u52d5\u306e\u30b3\u30f3\u30c8\u30ed\u30fc\u30eb\u306b\u4e0d\u53ef\u6b20\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>NFIX (Nuclear Factor I X):<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>\u6210\u9577\u3068\u9aa8\u683c\u306e\u8981\u3002<\/strong> \u8ee2\u5199\u56e0\u5b50\u3067\u3042\u308a\u3001\u6b20\u5931\u3059\u308b\u3068\u904e\u6210\u9577\uff08\u9ad8\u8eab\u9577\uff09\u3001\u5927\u982d\u75c7\u3001\u7279\u5fb4\u7684\u306a\u9854\u8c8c\u3001\u77e5\u7684\u969c\u5bb3\u3092\u5f15\u304d\u8d77\u3053\u3057\u307e\u3059\uff08\u30de\u30e9\u30f3\u75c7\u5019\u7fa4\u306e\u539f\u56e0\uff09\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>MAST1 (Microtubule Associated Serine\/Threonine Kinase 1):<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>\u8133\u69cb\u9020\u306e\u8981\u3002<\/strong> \u795e\u7d4c\u7d30\u80de\u306e\u9aa8\u7d44\u307f\u3092\u4f5c\u308a\u3001\u8133\u6881\uff08\u53f3\u8133\u3068\u5de6\u8133\u3092\u3064\u306a\u3050\u6a4b\uff09\u306e\u5f62\u6210\u306b\u95a2\u308f\u308a\u307e\u3059\u3002\u6b20\u5931\u3059\u308b\u3068\u8133\u6881\u304c\u5206\u539a\u304f\u306a\u308b\uff08\u5de8\u5927\u8133\u6881\uff09\u306a\u3069\u306e\u69cb\u9020\u7570\u5e38\u304c\u751f\u3058\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>DUSP23 \/ GIPC1:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u3053\u308c\u3089\u306e\u907a\u4f1d\u5b50\u3082\u8fd1\u508d\u306b\u3042\u308a\u3001\u4ee3\u8b1d\u3084\u7d30\u80de\u30b7\u30b0\u30ca\u30eb\u306b\u95a2\u4e0e\u3057\u3066\u3044\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p>\u6b20\u5931\u306e\u30b5\u30a4\u30ba\u306f\u60a3\u8005\u3055\u3093\u306b\u3088\u3063\u3066\u7570\u306a\u308a\u3001<em>CACNA1A<\/em>\u3060\u3051\u306e\u6b20\u5931\u306e\u4eba\u3082\u3044\u308c\u3070\u3001<em>NFIX<\/em>\u307e\u3067\u542b\u3093\u3060\u5927\u304d\u306a\u6b20\u5931\u306e\u4eba\u3082\u3044\u307e\u3059\u3002\u3053\u308c\u304c\u75c7\u72b6\u306e\u500b\u4eba\u5dee\u3092\u751f\u3080\u6700\u5927\u306e\u8981\u56e0\u3067\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u767a\u751f\u983b\u5ea6<\/strong><\/h2>\n\n\n\n<p><strong>\u975e\u5e38\u306b\u7a00\uff08Rare\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>19p13.13\u9818\u57df\u306e\u6b20\u5931\u306f\u3001\u4e00\u822c\u7684\u306a\u67d3\u8272\u4f53\u691c\u67fb\uff08G\u30d0\u30f3\u30c9\u6cd5\uff09\u3067\u306f\u691c\u51fa\u304c\u96e3\u3057\u3044\u5fae\u7d30\u306a\u3082\u306e\u304c\u591a\u3044\u305f\u3081\u3001\u3053\u308c\u307e\u3067\u898b\u904e\u3054\u3055\u308c\u3066\u304d\u305f\u6b74\u53f2\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u8fd1\u5e74\u306e\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u67d3\u8272\u4f53\u691c\u67fb\uff08CMA\uff09\u306e\u666e\u53ca\u306b\u3088\u308a\u767a\u898b\u6570\u304c\u5897\u3048\u3066\u3044\u307e\u3059\u304c\u3001\u4e16\u754c\u7684\u306a\u5831\u544a\u6570\u306f\u6570\u767e\u4f8b\u898f\u6a21\u3068\u63a8\u5b9a\u3055\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u305f\u3060\u3057\u3001\u539f\u56e0\u4e0d\u660e\u306e\u300c\u904b\u52d5\u5931\u8abf\u75c7\u300d\u3084\u300c\u767a\u9054\u9045\u6ede\u300d\u3001\u300c\u3066\u3093\u304b\u3093\u300d\u3068\u3057\u3066\u6cbb\u7642\u3055\u308c\u3066\u3044\u308b\u60a3\u8005\u3055\u3093\u306e\u4e2d\u306b\u3001\u672a\u8a3a\u65ad\u306e\u307e\u307e\u542b\u307e\u308c\u3066\u3044\u308b\u53ef\u80fd\u6027\u304c\u9ad8\u3044\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\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>19p13.13 microdeletion syndrome\u306e\u75c7\u72b6\u306f\u3001**\u300c\u795e\u7d4c\u5b66\u7684\u75c7\u72b6\uff08\u904b\u52d5\u30fb\u3066\u3093\u304b\u3093\uff09\u300d\u300c\u8eab\u4f53\u7684\u7279\u5fb4\uff08\u6210\u9577\u30fb\u9854\u8c8c\uff09\u300d\u300c\u767a\u9054\u306e\u554f\u984c\u300d**\u306e3\u3064\u304c\u67f1\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u7279\u306b\u3001\u3075\u3089\u3064\u304d\uff08\u5931\u8abf\uff09\u3084\u3066\u3093\u304b\u3093\u306f\u3001\u751f\u6d3b\u306e\u8cea\uff08QOL\uff09\u306b\u76f4\u7d50\u3059\u308b\u91cd\u8981\u306a\u75c7\u72b6\u3067\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u795e\u7d4c\u5b66\u7684\u75c7\u72b6\uff08CACNA1A\u6b20\u5931\u306e\u5f71\u97ff\u304c\u5927\uff09<\/strong><\/p>\n\n\n\n<p>\u672c\u75c7\u5019\u7fa4\u306b\u304a\u3044\u3066\u6700\u3082\u7279\u5fb4\u7684\u304b\u3064\u533b\u5b66\u7684\u7ba1\u7406\u304c\u5fc5\u8981\u306a\u75c7\u72b6\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5c0f\u8133\u6027\u904b\u52d5\u5931\u8abf\uff08Cerebellar Ataxia\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u4f53\u5e79\u306e\u30d0\u30e9\u30f3\u30b9\u304c\u60aa\u304f\u3001\u6b69\u884c\u6642\u306b\u3075\u3089\u3064\u304f\u3001\u8ee2\u3073\u3084\u3059\u3044\u3068\u3044\u3063\u305f\u75c7\u72b6\u304c\u898b\u3089\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u4e73\u5e7c\u5150\u671f\u306b\u306f\u300c\u304a\u5ea7\u308a\u304c\u5b89\u5b9a\u3057\u306a\u3044\u300d\u300c\u6b69\u304d\u59cb\u3081\u304c\u9045\u3044\u300d\u3068\u3057\u3066\u73fe\u308c\u3001\u6210\u9577\u3057\u3066\u3082\u300c\u904b\u52d5\u304c\u82e6\u624b\u300d\u300c\u3088\u304f\u7269\u306b\u3076\u3064\u304b\u308b\u300d\u3068\u3044\u3063\u305f\u72b6\u614b\u304c\u7d9a\u304f\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u767a\u4f5c\u6027\u5931\u8abf\uff08Episodic Ataxia\uff09:<\/strong> \u30b9\u30c8\u30ec\u30b9\u3084\u75b2\u52b4\u3001\u767a\u71b1\u306a\u3069\u3092\u304d\u3063\u304b\u3051\u306b\u3001\u6025\u6fc0\u306b\u3075\u3089\u3064\u304d\u3084\u3081\u307e\u3044\u304c\u60aa\u5316\u3057\u3001\u6570\u6642\u9593\u301c\u6570\u65e5\u7d9a\u304f\u767a\u4f5c\u3092\u8d77\u3053\u3059\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u773c\u632f\uff08Nystagmus\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u76ee\u306e\u7389\u304c\u5c0f\u523b\u307f\u306b\u63fa\u308c\u308b\u75c7\u72b6\u3067\u3059\u3002\u8996\u7dda\u3092\u56fa\u5b9a\u3057\u3088\u3046\u3068\u3059\u308b\u3068\u60aa\u5316\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\uff08\u6ce8\u8996\u773c\u632f\uff09\u3002\u3053\u308c\u3082\u5c0f\u8133\u6a5f\u80fd\u306e\u969c\u5bb3\u306b\u3088\u308b\u3082\u306e\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u3066\u3093\u304b\u3093\uff08Epilepsy\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u60a3\u8005\u3055\u3093\u306e\u7d04\u534a\u6570\u4ee5\u4e0a\u306b\u3051\u3044\u308c\u3093\u767a\u4f5c\u304c\u898b\u3089\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u6b20\u795e\u767a\u4f5c\uff08\u30dc\u30fc\u30c3\u3068\u3059\u308b\uff09\u3001\u5168\u822c\u5f37\u76f4\u9593\u4ee3\u767a\u4f5c\uff08\u5168\u8eab\u306e\u3051\u3044\u308c\u3093\uff09\u3001\u71b1\u6027\u3051\u3044\u308c\u3093\u306a\u3069\u30bf\u30a4\u30d7\u306f\u69d8\u3005\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u96e3\u6cbb\u6027\u3068\u306a\u308b\u5834\u5408\u3082\u3042\u308a\u307e\u3059\u304c\u3001\u591a\u304f\u306f\u85ac\u7269\u7642\u6cd5\u3067\u30b3\u30f3\u30c8\u30ed\u30fc\u30eb\u53ef\u80fd\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u8eab\u4f53\u7684\u7279\u5fb4\u30fb\u6210\u9577\uff08NFIX\u6b20\u5931\u306e\u5f71\u97ff\u304c\u5927\uff09<\/strong><\/p>\n\n\n\n<p>\u6b20\u5931\u7bc4\u56f2\u306b<em>NFIX<\/em>\u907a\u4f1d\u5b50\u304c\u542b\u307e\u308c\u308b\u5834\u5408\u3001\u4ee5\u4e0b\u306e\u300c\u30de\u30e9\u30f3\u75c7\u5019\u7fa4\u300d\u69d8\u306e\u75c7\u72b6\u304c\u73fe\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u904e\u6210\u9577\uff08Overgrowth\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8eab\u9577\u304c\u5e73\u5747\u3088\u308a\u3082\u9ad8\u304f\u3001\u3059\u3089\u3063\u3068\u3057\u305f\u7d30\u8eab\u306e\u4f53\u578b\uff08Marfanoid habitus\uff1a\u30de\u30eb\u30d5\u30a1\u30f3\u69d8\u4f53\u578b\uff09\u306b\u306a\u308b\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u6210\u9577\u66f2\u7dda\u306e\u4e0a\u9650\u3092\u8d85\u3048\u308b\u9ad8\u8eab\u9577\u3092\u793a\u3059\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u5927\u982d\u75c7\uff08Macrocephaly\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u982d\u56f2\u304c\u5927\u304d\u3044\u3001\u304a\u3067\u3053\u304c\u7a81\u51fa\u3057\u3066\u3044\u308b\u3068\u3044\u3063\u305f\u7279\u5fb4\u304c\u898b\u3089\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u7279\u5fb4\u7684\u306a\u9854\u8c8c:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u9762\u9577\uff08Long face\uff09<\/li>\n\n\n\n<li>\u5e83\u3044\u524d\u982d\u90e8<\/li>\n\n\n\n<li>\u773c\u77bc\u88c2\u659c\u4e0b\uff08\u30bf\u30ec\u76ee\uff09<\/li>\n\n\n\n<li>\u6df1\u3044\u773c\u7aa9\uff08\u76ee\u304c\u5965\u307e\u3063\u3066\u3044\u308b\uff09<\/li>\n\n\n\n<li>\u5c0f\u3055\u306a\u984e<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u9aa8\u683c\u7570\u5e38:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u5074\u5f2f\u75c7\uff08\u80cc\u9aa8\u304c\u66f2\u304c\u308b\uff09\u3084\u3001\u6f0f\u6597\u80f8\uff08\u80f8\u304c\u51f9\u3080\uff09\u3001\u9577\u3044\u6307\uff08\u304f\u3082\u72b6\u6307\uff09\u306a\u3069\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>3. \u795e\u7d4c\u767a\u9054\u30fb\u8a8d\u77e5\u6a5f\u80fd<\/strong><\/p>\n\n\n\n<p>\u307b\u307c\u5168\u4f8b\u3067\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>\u77e5\u7684\u969c\u5bb3\uff08ID\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u4e2d\u7b49\u5ea6\u304b\u3089\u91cd\u5ea6\u306e\u77e5\u7684\u969c\u5bb3\u3092\u4f34\u3046\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002<\/li>\n\n\n\n<li><em>CACNA1A<\/em>\u5358\u72ec\u306e\u6b20\u5931\u3067\u3082\u77e5\u7684\u969c\u5bb3\u306f\u898b\u3089\u308c\u307e\u3059\u304c\u3001<em>NFIX<\/em>\u3084<em>MAST1<\/em>\u3082\u6b20\u5931\u3057\u3066\u3044\u308b\u5834\u5408\u3001\u3088\u308a\u91cd\u5ea6\u306b\u306a\u308b\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u8a00\u8a9e\u767a\u9054\u306e\u9045\u308c:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8a00\u8449\u306e\u7406\u89e3\u306b\u6bd4\u3079\u3066\u3001\u767a\u8a9e\uff08\u8a71\u3059\u3053\u3068\uff09\u306e\u9045\u308c\u304c\u9855\u8457\u306a\u5834\u5408\u304c\u3042\u308a\u3001\u69cb\u97f3\u969c\u5bb3\uff08\u767a\u97f3\u304c\u306f\u3063\u304d\u308a\u3057\u306a\u3044\uff09\u3092\u4f34\u3046\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u7b4b\u7dca\u5f35\u4f4e\u4e0b\uff08Hypotonia\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u5168\u8eab\u306e\u7b4b\u8089\u306e\u5f35\u308a\u304c\u5f31\u304f\u3001\u4f53\u304c\u67d4\u3089\u304b\u3044\u72b6\u614b\u3067\u3059\u3002\u904b\u52d5\u767a\u9054\u306e\u9045\u308c\u306e\u4e00\u56e0\u3068\u306a\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>4. \u8133\u306e\u69cb\u9020\u7570\u5e38\uff08MAST1\u7b49\u306e\u5f71\u97ff\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5de8\u5927\u8133\u6881\uff08Mega-corpus-callosum\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>MRI\u691c\u67fb\u3067\u3001\u8133\u6881\uff08\u53f3\u8133\u3068\u5de6\u8133\u3092\u3064\u306a\u3050\u795e\u7d4c\u675f\uff09\u304c\u901a\u5e38\u3088\u308a\u3082\u5206\u539a\u304f\u306a\u3063\u3066\u3044\u308b\u6240\u898b\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u3053\u308c\u306f<em>MAST1<\/em>\u907a\u4f1d\u5b50\u6b20\u5931\u306b\u7279\u5fb4\u7684\u3067\u3059\u3002\u9006\u306b\u3001\u8133\u6881\u304c\u8584\u3044\uff08\u4f4e\u5f62\u6210\uff09\u5834\u5408\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u5c0f\u8133\u840e\u7e2e:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u6210\u9577\u3068\u3068\u3082\u306b\u3001\u5c0f\u8133\u306e\u5bb9\u7a4d\u304c\u5c0f\u3055\u304f\u306a\u308b\uff08\u840e\u7e2e\uff09\u6240\u898b\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\uff08<em>CACNA1A<\/em>\u95a2\u9023\uff09\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>\u773c\u79d1:<\/strong> \u659c\u8996\u3001\u8996\u529b\u4f4e\u4e0b\uff08\u76ae\u8cea\u8996\u899a\u969c\u5bb3\u306a\u3069\uff09\u3002<\/li>\n\n\n\n<li><strong>\u6d88\u5316\u5668:<\/strong> \u6442\u98df\u969c\u5bb3\u3001\u80c3\u98df\u9053\u9006\u6d41\u3001\u4fbf\u79d8\u3002<\/li>\n\n\n\n<li><strong>\u7cbe\u795e\u30fb\u884c\u52d5:<\/strong> \u81ea\u9589\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u75c7\uff08ASD\uff09\u3084\u6ce8\u610f\u6b20\u9665\u30fb\u591a\u52d5\u6027\u969c\u5bb3\uff08ADHD\uff09\u3001\u4e0d\u5b89\u969c\u5bb3\u306a\u3069\u306e\u884c\u52d5\u7279\u6027\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u539f\u56e0<\/strong><\/h2>\n\n\n\n<p><strong>19\u756a\u67d3\u8272\u4f53\u77ed\u8155\uff0819p13.13\uff09\u306b\u304a\u3051\u308b\u5fae\u7d30\u6b20\u5931<\/strong>\u304c\u539f\u56e0\u3067\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u907a\u4f1d\u5b50\u30cf\u30d7\u30ed\u4e0d\u5168\u306e\u30e1\u30ab\u30cb\u30ba\u30e0<\/strong><\/p>\n\n\n\n<p>\u300c\u30cf\u30d7\u30ed\u4e0d\u5168\u300d\u3068\u306f\u3001\u5bfe\u306b\u306a\u3063\u3066\u3044\u308b\u907a\u4f1d\u5b50\u306e\u7247\u65b9\u304c\u5931\u308f\u308c\u3001\u30bf\u30f3\u30d1\u30af\u8cea\u306e\u91cf\u304c\u534a\u5206\u306b\u306a\u308b\u3053\u3068\u3067\u6a5f\u80fd\u4e0d\u5168\u304c\u8d77\u3053\u308b\u72b6\u614b\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>CACNA1A\u306e\u30cf\u30d7\u30ed\u4e0d\u5168:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u30ab\u30eb\u30b7\u30a6\u30e0\u30a4\u30aa\u30f3\u30c1\u30e3\u30cd\u30eb\u306e\u91cf\u304c\u4e0d\u8db3\u3057\u307e\u3059\u3002\u795e\u7d4c\u7d30\u80de\u306f\u30ab\u30eb\u30b7\u30a6\u30e0\u30a4\u30aa\u30f3\u306e\u51fa\u5165\u308a\u3092\u5408\u56f3\u306b\u4fe1\u53f7\u3092\u9001\u3063\u3066\u3044\u307e\u3059\u304c\u3001\u3053\u306e\u30c1\u30e3\u30cd\u30eb\u304c\u8db3\u308a\u306a\u3044\u3068\u3001\u795e\u7d4c\u306e\u8208\u596e\u3068\u6291\u5236\u306e\u30d0\u30e9\u30f3\u30b9\u304c\u5d29\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u3053\u308c\u306b\u3088\u308a\u3001\u5c0f\u8133\u306e\u795e\u7d4c\u7d30\u80de\u304c\u3046\u307e\u304f\u50cd\u304b\u305a\u306b\u300c\u3075\u3089\u3064\u304d\u300d\u304c\u751f\u3058\u305f\u308a\u3001\u8133\u5168\u4f53\u304c\u904e\u5270\u8208\u596e\u3057\u3066\u300c\u3066\u3093\u304b\u3093\u300d\u304c\u8d77\u304d\u305f\u308a\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>NFIX\u306e\u30cf\u30d7\u30ed\u4e0d\u5168:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u7d30\u80de\u306e\u5897\u6b96\u3084\u5206\u5316\u3092\u30b3\u30f3\u30c8\u30ed\u30fc\u30eb\u3059\u308b\u30b9\u30a4\u30c3\u30c1\u5f79\u304c\u4e0d\u8db3\u3057\u307e\u3059\u3002\u3053\u308c\u306b\u3088\u308a\u3001\u9aa8\u3084\u8133\u306e\u7d30\u80de\u5897\u6b96\u306e\u5236\u5fa1\u304c\u52b9\u304b\u306a\u304f\u306a\u308a\u3001\u904e\u6210\u9577\u3084\u8133\u306e\u767a\u9054\u7570\u5e38\u304c\u751f\u3058\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \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:<\/strong>\n<ul class=\"wp-block-list\">\n<li>19p13.13\u5fae\u7d30\u6b20\u5931\u75c7\u5019\u7fa4\u306e<strong>\u5927\u90e8\u5206<\/strong>\u306f\u3001\u4e21\u89aa\u304b\u3089\u306e\u907a\u4f1d\u3067\u306f\u306a\u304f\u3001\u53d7\u7cbe\u306e\u904e\u7a0b\u3067\u5076\u767a\u7684\u306b\u751f\u3058\u305f\u7a81\u7136\u5909\u7570\u3067\u3059\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\n\n\n<li><strong>\u5bb6\u65cf\u6027\uff08\u89aa\u306e\u8ee2\u5ea7\u306a\u3069\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u7a00\u306b\u3001\u89aa\u304c\u300c\u5747\u8861\u578b\u8ee2\u5ea7\u300d\u3092\u6301\u3063\u3066\u3044\u305f\u308a\u3001\u89aa\u81ea\u8eab\u304c\u8efd\u5ea6\u306e\u75c7\u72b6\uff08\u8efd\u5ea6\u306e\u904b\u52d5\u82e6\u624b\u3055\u306a\u3069\uff09\u3092\u6301\u3064\u30e2\u30b6\u30a4\u30af\u4fdd\u56e0\u8005\u3067\u3042\u3063\u305f\u308a\u3059\u308b\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/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\u3075\u3089\u3064\u304d\u300d\u300c\u3066\u3093\u304b\u3093\u300d\u300c\u767a\u9054\u9045\u6ede\u300d\u306b\u52a0\u3048\u3001\u300c\u80cc\u304c\u9ad8\u3044\u300d\u300c\u7279\u5fb4\u7684\u306a\u9854\u8c8c\u300d\u306a\u3069\u306e\u75c7\u72b6\u306e\u7d44\u307f\u5408\u308f\u305b\u304b\u3089\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:<\/strong>\n<ul class=\"wp-block-list\">\n<li>19p13.13\u9818\u57df\u306e\u5fae\u7d30\u6b20\u5931\u3092\u691c\u51fa\u3059\u308b<strong>\u30b4\u30fc\u30eb\u30c9\u30b9\u30bf\u30f3\u30c0\u30fc\u30c9<\/strong>\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u6b20\u5931\u306e\u7bc4\u56f2\u3092\u6b63\u78ba\u306b\u7279\u5b9a\u3057\u3001<em>CACNA1A<\/em>\u3001<em>NFIX<\/em>\u3001<em>MAST1<\/em>\u306a\u3069\u306e\u3069\u306e\u907a\u4f1d\u5b50\u304c\u542b\u307e\u308c\u3066\u3044\u308b\u304b\u3092\u78ba\u8a8d\u3059\u308b\u3053\u3068\u3067\u3001\u75c7\u72b6\u306e\u4e88\u6e2c\u3084\u7ba1\u7406\u65b9\u91dd\u306e\u6c7a\u5b9a\u306b\u5f79\u7acb\u3061\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u982d\u90e8MRI\u691c\u67fb:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u5c0f\u8133\u306e\u840e\u7e2e\u3084\u3001\u8133\u6881\u306e\u5f62\u72b6\uff08\u5de8\u5927\u8133\u6881\u306a\u3069\uff09\u3092\u78ba\u8a8d\u3059\u308b\u305f\u3081\u306b\u884c\u308f\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u8133\u6ce2\u691c\u67fb:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u3066\u3093\u304b\u3093\u767a\u4f5c\u306e\u6709\u7121\u3084\u30bf\u30a4\u30d7\u3092\u8a3a\u65ad\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\u88dc\u3046\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\u305d\u308c\u305e\u308c\u306e\u75c7\u72b6\u306b\u5bfe\u3059\u308b\u5bfe\u75c7\u7642\u6cd5\u3068\u3001\u6a5f\u80fd\u3092\u7dad\u6301\u30fb\u5411\u4e0a\u3055\u305b\u308b\u305f\u3081\u306e\u7642\u80b2\u7684\u652f\u63f4\u304c\u4e2d\u5fc3\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u795e\u7d4c\u5b66\u7684\u6cbb\u7642\uff08\u3066\u3093\u304b\u3093\u30fb\u904b\u52d5\u5931\u8abf\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u3066\u3093\u304b\u3093\u6cbb\u7642:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u767a\u4f5c\u578b\u306b\u5fdc\u3058\u305f\u6297\u3066\u3093\u304b\u3093\u85ac\uff08\u30d0\u30eb\u30d7\u30ed\u9178\u3001\u30ec\u30d9\u30c1\u30e9\u30bb\u30bf\u30e0\u306a\u3069\uff09\u3092\u4f7f\u7528\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><em>CACNA1A<\/em>\u95a2\u9023\u306e\u3066\u3093\u304b\u3093\u306b\u306f\u3001\u7279\u5b9a\u306e\u85ac\u5264\uff08\u30a2\u30bb\u30bf\u30be\u30e9\u30df\u30c9\u306a\u3069\uff09\u304c\u6709\u52b9\u306a\u5834\u5408\u304c\u3042\u308b\u305f\u3081\u3001\u5c02\u9580\u533b\u306b\u3088\u308b\u8abf\u6574\u304c\u5fc5\u8981\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u904b\u52d5\u5931\u8abf\u3078\u306e\u5bfe\u5fdc:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u30a2\u30bb\u30bf\u30be\u30e9\u30df\u30c9\uff08\u70ad\u9178\u8131\u6c34\u9175\u7d20\u963b\u5bb3\u85ac\uff09\u304c\u3001\u767a\u4f5c\u6027\u5931\u8abf\u3084\u3075\u3089\u3064\u304d\u3092\u8efd\u6e1b\u3059\u308b\u52b9\u679c\u304c\u3042\u308b\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u8ee2\u5012\u4e88\u9632\u306e\u305f\u3081\u306e\u74b0\u5883\u8abf\u6574\uff08\u624b\u3059\u308a\u306e\u8a2d\u7f6e\u3001\u30d8\u30c3\u30c9\u30ae\u30a2\u306e\u4f7f\u7528\u306a\u3069\uff09\u3082\u91cd\u8981\u3067\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:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u4f53\u5e79\u30d0\u30e9\u30f3\u30b9\u306e\u5f37\u5316\u3084\u3001\u3075\u3089\u3064\u304d\u304c\u3042\u3063\u3066\u3082\u5b89\u5168\u306b\u6b69\u884c\u3059\u308b\u305f\u3081\u306e\u8a13\u7df4\u3092\u884c\u3044\u307e\u3059\u3002\u7b4b\u7dca\u5f35\u4f4e\u4e0b\u3078\u306e\u30a2\u30d7\u30ed\u30fc\u30c1\u3082\u91cd\u8981\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u4f5c\u696d\u7642\u6cd5\uff08OT\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u624b\u5148\u306e\u5fae\u7d30\u904b\u52d5\u306e\u8a13\u7df4\u3084\u3001\u65e5\u5e38\u751f\u6d3b\u52d5\u4f5c\uff08\u98df\u4e8b\u30fb\u7740\u66ff\u3048\uff09\u306e\u81ea\u7acb\u652f\u63f4\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u8a00\u8a9e\u8074\u899a\u7642\u6cd5\uff08ST\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8a00\u8449\u306e\u9045\u308c\u3084\u69cb\u97f3\u969c\u5bb3\u306b\u5bfe\u3057\u3001\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u6307\u5c0e\u3092\u884c\u3044\u307e\u3059\u3002\u8996\u899a\u652f\u63f4\uff08\u7d75\u30ab\u30fc\u30c9\uff09\u306a\u3069\u3082\u6d3b\u7528\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u6559\u80b2:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u77e5\u7684\u969c\u5bb3\u306e\u7a0b\u5ea6\u3084\u8eab\u4f53\u7684\u306a\u3075\u3089\u3064\u304d\u306e\u30ea\u30b9\u30af\u306b\u5408\u308f\u305b\u3001\u7279\u5225\u652f\u63f4\u5b66\u7d1a\u3084\u7279\u5225\u652f\u63f4\u5b66\u6821\u306a\u3069\u3001\u5b89\u5168\u3067\u5b66\u3073\u3084\u3059\u3044\u74b0\u5883\u3092\u9078\u629e\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u5065\u5eb7\u7ba1\u7406\uff08\u30b5\u30fc\u30d9\u30a4\u30e9\u30f3\u30b9\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5074\u5f2f\u75c7\u30c1\u30a7\u30c3\u30af:<\/strong>\n<ul class=\"wp-block-list\">\n<li><em>NFIX<\/em>\u6b20\u5931\u3092\u542b\u3080\u5834\u5408\u3001\u5074\u5f2f\u75c7\u306e\u30ea\u30b9\u30af\u304c\u9ad8\u3044\u305f\u3081\u3001\u5b9a\u671f\u7684\u306a\u810a\u67f1\u306e\u30c1\u30a7\u30c3\u30af\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u773c\u79d1\u691c\u8a3a:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u773c\u632f\u3084\u8996\u529b\u4f4e\u4e0b\u306e\u8a55\u4fa1\u3092\u5b9a\u671f\u7684\u306b\u884c\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u611f\u67d3\u75c7\u5bfe\u7b56:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u3066\u3093\u304b\u3093\u3084\u5931\u8abf\u767a\u4f5c\u306f\u3001\u767a\u71b1\u306b\u3088\u3063\u3066\u8a98\u767a\u3055\u308c\u3084\u3059\u3044\u305f\u3081\u3001\u611f\u67d3\u75c7\u306e\u4e88\u9632\u3068\u65e9\u671f\u6cbb\u7642\u304c\u5927\u5207\u3067\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>\u672c\u75be\u60a3\u306f\u300c\u96a3\u63a5\u907a\u4f1d\u5b50\u75c7\u5019\u7fa4\u300d\u3067\u3042\u308a\u3001\u75c7\u72b6\u306e\u500b\u4eba\u5dee\u304c\u5927\u304d\u3044\u305f\u3081\u3001\u8a3a\u65ad\u7d50\u679c\uff08\u3069\u306e\u907a\u4f1d\u5b50\u304c\u6b20\u5931\u3057\u3066\u3044\u308b\u304b\uff09\u306b\u57fa\u3065\u3044\u305f\u6b63\u78ba\u306a\u60c5\u5831\u306e\u63d0\u4f9b\u304c\u5fc5\u8981\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u6b21\u5b50\u306e\u518d\u767a\u30ea\u30b9\u30af\u3084\u3001\u5c06\u6765\u306e\u898b\u901a\u3057\u306b\u3064\u3044\u3066\u3001\u81e8\u5e8a\u907a\u4f1d\u5c02\u9580\u533b\u3084\u8a8d\u5b9a\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30e9\u30fc\u3068\u76f8\u8ac7\u3059\u308b\u3053\u3068\u304c\u63a8\u5968\u3055\u308c\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>19p13.13 microdeletion syndrome\u306f\u300119\u756a\u67d3\u8272\u4f53\u306e\u4e00\u90e8\u304c\u6b20\u3051\u308b\u3053\u3068\u3067\u3001\u8133\u3084\u4f53\u306e\u767a\u9054\u306b\u95a2\u308f\u308b\u91cd\u8981\u306a\u907a\u4f1d\u5b50\uff08CACNA1A, NFIX\u306a\u3069\uff09\u304c\u4e0d\u8db3\u3057\u3066\u8d77\u3053\u308b\u75be\u60a3\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u300c\u3088\u304f\u8ee2\u3076\u300d\u300c\u3075\u3089\u3064\u304f\u300d\u3068\u3044\u3063\u305f\u904b\u52d5\u306e\u7279\u5fb4\u3084\u3001\u3066\u3093\u304b\u3093\u767a\u4f5c\u3001\u305d\u3057\u3066\u80cc\u304c\u9ad8\u304f\u306a\u308a\u3084\u3059\u3044\u3068\u3044\u3063\u305f\u8eab\u4f53\u7684\u306a\u7279\u5fb4\u304c\u7d44\u307f\u5408\u308f\u3055\u3063\u3066\u73fe\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3054\u5bb6\u65cf\u306b\u3068\u3063\u3066\u306f\u3001\u69d8\u3005\u306a\u75c7\u72b6\u306b\u5bfe\u5fdc\u3057\u306a\u3051\u308c\u3070\u306a\u3089\u305a\u3001\u4e0d\u5b89\u3092\u611f\u3058\u308b\u3053\u3068\u3082\u591a\u3044\u304b\u3068\u601d\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3057\u304b\u3057\u3001\u305d\u308c\u305e\u308c\u306e\u75c7\u72b6\u306b\u306f\u5bfe\u5fdc\u7b56\u304c\u3042\u308a\u307e\u3059\u3002\u3066\u3093\u304b\u3093\u3084\u3075\u3089\u3064\u304d\u306f\u304a\u85ac\u3067\u6539\u5584\u3067\u304d\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3057\u3001\u767a\u9054\u306e\u9045\u308c\u306b\u5bfe\u3057\u3066\u306f\u7642\u80b2\u304c\u5927\u304d\u306a\u529b\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u307e\u305f\u3001\u3053\u306e\u75be\u60a3\u3092\u6301\u3064\u304a\u5b50\u3055\u3093\u306f\u3001\u8a00\u8449\u3067\u306e\u8868\u73fe\u304c\u82e6\u624b\u3067\u3082\u3001\u8c4a\u304b\u306a\u611f\u60c5\u3092\u6301\u3063\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u533b\u7642\u30c1\u30fc\u30e0\u3068\u9023\u643a\u3057\u3066\u3001\u767a\u4f5c\u306e\u30b3\u30f3\u30c8\u30ed\u30fc\u30eb\u3084\u8ee2\u5012\u4e88\u9632\u3092\u884c\u3044\u306a\u304c\u3089\u3001\u304a\u5b50\u3055\u3093\u306e\u300c\u3067\u304d\u308b\u3053\u3068\u300d\u3092\u4e00\u3064\u305a\u3064\u5897\u3084\u3057\u3066\u3044\u304f\u30b5\u30dd\u30fc\u30c8\u3092\u7d9a\u3051\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>Luo, S., et al.<\/strong> (2017). <em>19p13.13 microdeletion syndrome: clinical and molecular characterization of newly identified patients.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203bCACNA1A\u3092\u542b\u308019p13.13\u6b20\u5931\u60a3\u8005\u306e\u81e8\u5e8a\u7684\u7279\u5fb4\u3092\u8a73\u7d30\u306b\u5831\u544a\u3057\u3001\u904b\u52d5\u5931\u8abf\u3084\u77e5\u7684\u969c\u5bb3\u3068\u306e\u95a2\u9023\u3092\u89e3\u6790\u3057\u305f\u8ad6\u6587\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>GeneReviews\u00ae [Internet]<\/strong>: <em>CACNA1A-Related Disorders<\/em>. Initial Posting: November 15, 2019. <em>Authors: Indelicato E, et al.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203bCACNA1A\u907a\u4f1d\u5b50\u7570\u5e38\u306b\u3088\u308b\u75be\u60a3\u7fa4\uff08\u904b\u52d5\u5931\u8abf\u3001\u3066\u3093\u304b\u3093\u306a\u3069\uff09\u306e\u5305\u62ec\u7684\u306a\u30ac\u30a4\u30c9\u30e9\u30a4\u30f3\u3002\u6b20\u5931\u4f8b\u306b\u3064\u3044\u3066\u3082\u8a00\u53ca\u3042\u308a\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Priolo, M., et al.<\/strong> (2012). <em>Further delineation of Malan syndrome.<\/em> Human Mutation.\n<ul class=\"wp-block-list\">\n<li>(\u203bNFIX\u6b20\u5931\u3092\u542b\u3080\u30de\u30e9\u30f3\u75c7\u5019\u7fa4\u306e\u81e8\u5e8a\u50cf\uff08\u904e\u6210\u9577\u3001\u9854\u8c8c\u306a\u3069\uff09\u3092\u5b9a\u7fa9\u3065\u3051\u305f\u91cd\u8981\u6587\u732e\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Ben Salem, J., et al.<\/strong> (2014). <em>Mega-corpus-callosum syndrome caused by a contiguous deletion of MAST1 and NFIX.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203bMAST1\u907a\u4f1d\u5b50\u306e\u6b20\u5931\u304c\u5de8\u5927\u8133\u6881\u306e\u539f\u56e0\u3067\u3042\u308b\u3053\u3068\u3092\u793a\u5506\u3057\u300119p13.13\u6b20\u5931\u75c7\u5019\u7fa4\u306e\u69cb\u9020\u7570\u5e38\u306b\u3064\u3044\u3066\u8003\u5bdf\u3057\u305f\u7814\u7a76\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>ClinGen Dosage Sensitivity Curation<\/strong>: <em>CACNA1A<\/em> (Haploinsufficiency score: 3 &#8211; Sufficient evidence), <em>NFIX<\/em> (Haploinsufficiency score: 3).\n<ul class=\"wp-block-list\">\n<li>(\u203b\u5404\u907a\u4f1d\u5b50\u306e\u30cf\u30d7\u30ed\u4e0d\u5168\uff08\u6b20\u5931\uff09\u304c\u75be\u60a3\u3092\u5f15\u304d\u8d77\u3053\u3059\u3053\u3068\u306e\u79d1\u5b66\u7684\u6839\u62e0\u8a55\u4fa1\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Unique (Rare Chromosome Disorder Support Group)<\/strong>: <em>19p13.13 deletions<\/em> (2020).\n<ul class=\"wp-block-list\">\n<li>(\u60a3\u8005\u5bb6\u65cf\u5411\u3051\u306e\u30ac\u30a4\u30c9\u30e9\u30a4\u30f3\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-16811","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\/16811","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":3,"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/16811\/revisions"}],"predecessor-version":[{"id":16814,"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/16811\/revisions\/16814"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/media?parent=16811"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}