{"id":16962,"date":"2026-01-21T03:07:06","date_gmt":"2026-01-21T03:07:06","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/gene\/?post_type=genetic-screening&#038;p=16962"},"modified":"2026-01-21T03:07:51","modified_gmt":"2026-01-21T03:07:51","slug":"2p16-3-deletion-syndrome","status":"publish","type":"genetic-screening","link":"https:\/\/www.hiro-clinic.or.jp\/gene\/genetic-screening\/2p16-3-deletion-syndrome\/","title":{"rendered":"2p16.3 deletion 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>2p16.3\u6b20\u5931\u75c7\u5019\u7fa4<\/li>\n\n\n\n<li>NRXN1\u6b20\u5931\u75c7\u5019\u7fa4\uff08NRXN1 deletion syndrome\uff09\n<ul class=\"wp-block-list\">\n<li>\u203b\u672c\u75be\u60a3\u306e\u4e3b\u75c7\u72b6\u306f\u3001\u3053\u306e\u9818\u57df\u306b\u542b\u307e\u308c\u308b<em>NRXN1<\/em>\u907a\u4f1d\u5b50\u306e\u6b20\u5931\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u308b\u305f\u3081\u3001\u81e8\u5e8a\u73fe\u5834\u3067\u306f\u3053\u3046\u547c\u3070\u308c\u308b\u3053\u3068\u304c\u4e00\u822c\u7684\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li>NRXN1\u95a2\u9023\u795e\u7d4c\u767a\u9054\u969c\u5bb3\uff08NRXN1-related neurodevelopmental disorder\uff09<\/li>\n\n\n\n<li>2p16.3\u5fae\u7d30\u6b20\u5931\uff082p16.3 microdeletion\uff09<\/li>\n\n\n\n<li>\u95a2\u9023\uff1a\u81ea\u9589\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u75c7\uff08Autism Spectrum Disorder; ASD\uff09<\/li>\n\n\n\n<li>\u95a2\u9023\uff1a\u7d71\u5408\u5931\u8abf\u75c7\u611f\u53d7\u6027\u907a\u4f1d\u5b50\u5ea7\uff08Susceptibility locus for Schizophrenia\uff09<\/li>\n\n\n\n<li>\u30d4\u30c3\u30c8\u30fb\u30db\u30d7\u30ad\u30f3\u30b9\u69d8\u75c7\u5019\u7fa42\uff08Pitt-Hopkins-like syndrome 2\uff09\n<ul class=\"wp-block-list\">\n<li>\u203b\u904e\u53bb\u306b\u3053\u306e\u3088\u3046\u306b\u5206\u985e\u3055\u308c\u305f\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u73fe\u5728\u306f\u72ec\u7acb\u3057\u305f\u75be\u60a3\u6982\u5ff5\uff08NRXN1\u6b20\u5931\uff09\u3068\u3057\u3066\u6271\u308f\u308c\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>2\u756a\u67d3\u8272\u4f53 \u77ed\u8155\uff08p\uff0916.3\u9818\u57df<\/strong><\/p>\n\n\n\n<p>\u672c\u75be\u60a3\u306f\u3001\u30d2\u30c8\u306e2\u756a\u67d3\u8272\u4f53\u306e\u77ed\u8155\uff08p\u30a2\u30fc\u30e0\uff09\u306e\u300c16.3\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\u6700\u91cd\u8981\u907a\u4f1d\u5b50\uff1aNRXN1\u3011<\/p>\n\n\n\n<p>2p16.3\u9818\u57df\u306e\u6b20\u5931\u30b5\u30a4\u30ba\u306f\u60a3\u8005\u3055\u3093\u306b\u3088\u3063\u3066\u7570\u306a\u308a\u3001\u6570\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>\u3057\u304b\u3057\u3001\u3053\u306e\u75c7\u5019\u7fa4\u306e\u672c\u8cea\u306f\u3001\u6b20\u5931\u306e\u300c\u5927\u304d\u3055\u300d\u3088\u308a\u3082\u3001**\u300cNRXN1\u907a\u4f1d\u5b50\u304c\u542b\u307e\u308c\u3066\u3044\u308b\u304b\u3069\u3046\u304b\u300d**\u306b\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>NRXN1 (Neurexin 1) \u907a\u4f1d\u5b50:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u30d2\u30c8\u30b2\u30ce\u30e0\u306e\u4e2d\u3067\u6700\u3082\u5de8\u5927\u306a\u907a\u4f1d\u5b50\u306e\u4e00\u3064\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5f79\u5272:<\/strong> \u8133\u306e\u795e\u7d4c\u7d30\u80de\uff08\u30cb\u30e5\u30fc\u30ed\u30f3\uff09\u540c\u58eb\u304c\u3064\u306a\u304c\u308b\u63a5\u5408\u90e8\u3067\u3042\u308b**\u300c\u30b7\u30ca\u30d7\u30b9\u300d**\u306e\u5f62\u6210\u3068\u6a5f\u80fd\u7dad\u6301\u306b\u6c7a\u5b9a\u7684\u306a\u5f79\u5272\u3092\u679c\u305f\u3057\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u30b7\u30ca\u30d7\u30b9\u63a5\u7740\u5206\u5b50:<\/strong> NRXN1\u30bf\u30f3\u30d1\u30af\u8cea\u306f\u3001\u30b7\u30ca\u30d7\u30b9\u306e\u300c\u30b7\u30ca\u30d7\u30b9\u524d\u90e8\uff08\u30d7\u30ec\u30b7\u30ca\u30d7\u30b9\uff09\u300d\u306b\u5b58\u5728\u3057\u3001\u5411\u304b\u3044\u5074\u306e\u300c\u30b7\u30ca\u30d7\u30b9\u5f8c\u90e8\uff08\u30dd\u30b9\u30c8\u30b7\u30ca\u30d7\u30b9\uff09\u300d\u306b\u3042\u308b\u30cb\u30e5\u30fc\u30ed\u30ea\u30ae\u30f3\uff08Neuroligin\uff09\u306a\u3069\u306e\u30bf\u30f3\u30d1\u30af\u8cea\u3068\u63e1\u624b\u3092\u3059\u308b\u3088\u3046\u306b\u7d50\u5408\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u3053\u308c\u306b\u3088\u308a\u3001\u795e\u7d4c\u7d30\u80de\u540c\u58eb\u306e\u7269\u7406\u7684\u306a\u7d50\u5408\u304c\u3064\u306a\u304e\u6b62\u3081\u3089\u308c\u3001\u60c5\u5831\u306e\u53d7\u3051\u6e21\u3057\uff08\u795e\u7d4c\u4f1d\u9054\uff09\u304c\u30b9\u30e0\u30fc\u30ba\u306b\u884c\u308f\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li>2p16.3\u6b20\u5931\u306b\u3088\u308a\u3053\u306e\u907a\u4f1d\u5b50\u304c\u534a\u5206\uff08\u30cf\u30d7\u30ed\u4e0d\u5168\uff09\u306b\u306a\u308b\u3068\u3001\u30b7\u30ca\u30d7\u30b9\u306e\u7d50\u5408\u304c\u4e0d\u5b89\u5b9a\u306b\u306a\u308a\u3001\u8133\u5185\u306e\u60c5\u5831\u30cd\u30c3\u30c8\u30ef\u30fc\u30af\u306e\u5f62\u6210\u306b\u504f\u308a\u3084\u9045\u308c\u304c\u751f\u3058\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/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>\u7a00\uff08Rare\uff09\u3060\u304c\u3001\u767a\u9054\u969c\u5bb3\u3092\u6301\u3064\u96c6\u56e3\u306e\u4e2d\u3067\u306f\u6bd4\u8f03\u7684\u983b\u5ea6\u304c\u9ad8\u3044<\/strong><\/p>\n\n\n\n<p>\u4e00\u822c\u96c6\u56e3\u306b\u304a\u3051\u308b\u6b63\u78ba\u306a\u983b\u5ea6\u306f\u3001\u7d042,000\u301c3,000\u4eba\u306b1\u4eba\u7a0b\u5ea6\u3068\u3059\u308b\u63a8\u8a08\u3082\u3042\u308a\u307e\u3059\u304c\u3001\u591a\u304f\u306f\u672a\u8a3a\u65ad\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3057\u304b\u3057\u3001\u300c\u81ea\u9589\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u75c7\uff08ASD\uff09\u300d\u3084\u300c\u539f\u56e0\u4e0d\u660e\u306e\u767a\u9054\u9045\u6ede\u300d\u3001**\u300c\u7d71\u5408\u5931\u8abf\u75c7\u300d**\u3092\u6301\u3064\u60a3\u8005\u3055\u3093\u3092\u5bfe\u8c61\u306b\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u67d3\u8272\u4f53\u691c\u67fb\u3092\u884c\u3046\u3068\u3001\u7d040.2%\u301c0.5% \u7a0b\u5ea6\u306e\u983b\u5ea6\u3067\u3053\u306e\u6b20\u5931\u304c\u898b\u3064\u304b\u308b\u3068\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u308c\u306f\u3001\u7279\u5b9a\u306e\u907a\u4f1d\u5b50\u5909\u7570\u3068\u3057\u3066\u306f\u6bd4\u8f03\u7684\u9ad8\u3044\u983b\u5ea6\u3067\u3042\u308a\u3001\u795e\u7d4c\u7cbe\u795e\u75be\u60a3\u306e\u91cd\u8981\u306a\u30ea\u30b9\u30af\u56e0\u5b50\uff08CNV\uff09\u3068\u3057\u3066\u4e16\u754c\u4e2d\u3067\u7814\u7a76\u304c\u9032\u3081\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>2p16.3 deletion syndrome\u306e\u6700\u5927\u306e\u7279\u5fb4\u306f\u3001**\u300c\u8eab\u4f53\u7684\u306a\u5947\u5f62\u306f\u307b\u3068\u3093\u3069\u306a\u3044\uff08\u3042\u308b\u3044\u306f\u8efd\u5fae\u3067\u3042\u308b\uff09\u300d\u4e00\u65b9\u3067\u3001\u300c\u591a\u69d8\u306a\u795e\u7d4c\u7cbe\u795e\u75c7\u72b6\u300d\u304c\u73fe\u308c\u308b\u3053\u3068\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u307e\u305f\u3001\u300c\u4e0d\u5b8c\u5168\u6d78\u900f\uff08Incomplete Penetrance\uff09\u300d\u3068\u300c\u53ef\u5909\u8868\u73fe\u6027\uff08Variable Expressivity\uff09\u300d**\u304c\u9855\u8457\u3067\u3042\u308a\u3001\u540c\u3058\u6b20\u5931\u3092\u6301\u3063\u3066\u3044\u3066\u3082\u3001\u91cd\u5ea6\u306e\u969c\u5bb3\u304c\u3042\u308b\u4eba\u304b\u3089\u3001\u5065\u5e38\u306a\u793e\u4f1a\u751f\u6d3b\u3092\u9001\u3063\u3066\u3044\u308b\u4eba\u307e\u3067\u3001\u75c7\u72b6\u306e\u5e45\u304c\u6975\u3081\u3066\u5e83\u3044\u3067\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u795e\u7d4c\u767a\u9054\u75c7\uff08\u767a\u9054\u969c\u5bb3\uff09<\/strong><\/p>\n\n\n\n<p>\u6700\u3082\u4e2d\u6838\u7684\u306a\u75c7\u72b6\u3067\u3059\u3002\u5c0f\u5150\u671f\u306b\u8a3a\u65ad\u3055\u308c\u308b\u304d\u3063\u304b\u3051\u306e\u591a\u304f\u306f\u3001\u8a00\u8449\u306e\u9045\u308c\u3084\u884c\u52d5\u306e\u554f\u984c\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u8a00\u8a9e\u767a\u9054\u9045\u6ede:<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>\u6700\u3082\u4e00\u822c\u7684\u306a\u521d\u671f\u75c7\u72b6<\/strong>\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u767a\u8a9e\u306e\u958b\u59cb\u304c\u9045\u3044\uff08Speech delay\uff09\u3001\u767a\u97f3\u304c\u4e0d\u660e\u77ad\u3001\u4f1a\u8a71\u306e\u30ad\u30e3\u30c3\u30c1\u30dc\u30fc\u30eb\u304c\u82e6\u624b\u3068\u3044\u3063\u305f\u7279\u5fb4\u304c\u898b\u3089\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u591a\u304f\u306e\u60a3\u8005\u3055\u3093\u306f\u8a00\u8449\u3092\u7372\u5f97\u3057\u307e\u3059\u304c\u3001\u8868\u73fe\u6027\u8a00\u8a9e\uff08\u8a71\u3059\u3053\u3068\uff09\u306b\u82e6\u52b4\u3059\u308b\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u81ea\u9589\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u75c7\uff08ASD\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u60a3\u8005\u3055\u3093\u306e\u591a\u304f\u304cASD\u306e\u8a3a\u65ad\u57fa\u6e96\u3092\u6e80\u305f\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u8996\u7dda\u304c\u5408\u308f\u306a\u3044\u3001\u793e\u4f1a\u7684\u306a\u95a2\u308f\u308a\u304c\u82e6\u624b\u3001\u7279\u5b9a\u306e\u7269\u4e8b\u3078\u306e\u5f37\u3044\u3053\u3060\u308f\u308a\u3001\u611f\u899a\u904e\u654f\uff08\u97f3\u3084\u89e6\u899a\uff09\u306a\u3069\u304c\u898b\u3089\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li><em>NRXN1<\/em>\u907a\u4f1d\u5b50\u306f\u300c\u81ea\u9589\u75c7\u95a2\u9023\u907a\u4f1d\u5b50\u300d\u306e\u4ee3\u8868\u683c\u3068\u3057\u3066\u77e5\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u77e5\u7684\u969c\u5bb3\uff08ID\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8efd\u5ea6\u304b\u3089\u91cd\u5ea6\u307e\u3067\u69d8\u3005\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u3057\u304b\u3057\u3001\u77e5\u7684\u969c\u5bb3\u3092\u4f34\u308f\u306a\u3044\uff08IQ\u304c\u6b63\u5e38\u7bc4\u56f2\u306e\uff09\u60a3\u8005\u3055\u3093\u3082\u6570\u591a\u304f\u5b58\u5728\u3057\u307e\u3059\u3002\u5b66\u7fd2\u969c\u5bb3\uff08LD\uff09\u3068\u3057\u3066\u73fe\u308c\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u7cbe\u795e\u533b\u5b66\u7684\u7279\u5fb4\uff08\u30e1\u30f3\u30bf\u30eb\u30d8\u30eb\u30b9\uff09<\/strong><\/p>\n\n\n\n<p>\u601d\u6625\u671f\u304b\u3089\u6210\u4eba\u671f\u306b\u304b\u3051\u3066\u6ce8\u610f\u304c\u5fc5\u8981\u306a\u7279\u5fb4\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u7d71\u5408\u5931\u8abf\u75c7\uff08Schizophrenia\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u4e00\u822c\u96c6\u56e3\u306b\u6bd4\u3079\u3066\u767a\u75c7\u30ea\u30b9\u30af\u304c\u6709\u610f\u306b\u9ad8\u3044\u3053\u3068\u304c\u77e5\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u5e7b\u8074\u3001\u5984\u60f3\u3001\u610f\u6b32\u306e\u4f4e\u4e0b\u306a\u3069\u304c\u73fe\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><em>NRXN1<\/em>\u6b20\u5931\u306f\u3001\u751f\u7269\u5b66\u7684\u306a\u7d71\u5408\u5931\u8abf\u75c7\u306e\u30ea\u30b9\u30af\u56e0\u5b50\uff08CNV\uff09\u3068\u3057\u3066\u78ba\u7acb\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u305d\u306e\u4ed6\u306e\u7cbe\u795e\u75c7\u72b6:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u4e0d\u5b89\u969c\u5bb3\u3001\u3046\u3064\u75c5\u3001\u53cc\u6975\u6027\u969c\u5bb3\u3001\u6ce8\u610f\u6b20\u9665\u30fb\u591a\u52d5\u6027\u969c\u5bb3\uff08ADHD\uff09\u3001\u30c1\u30c3\u30af\u75c7\u306a\u3069\u304c\u5408\u4f75\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u611f\u60c5\u306e\u30b3\u30f3\u30c8\u30ed\u30fc\u30eb\u304c\u82e6\u624b\u3067\u3001\u304b\u3093\u3057\u3083\u304f\u3084\u30d1\u30cb\u30c3\u30af\u3092\u8d77\u3053\u3057\u3084\u3059\u3044\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u8eab\u4f53\u7684\u7279\u5fb4\u30fb\u9854\u8c8c<\/strong><\/p>\n\n\n\n<p>\u7279\u7570\u7684\u306a\u9854\u8c8c\uff08Dysmorphism\uff09\u306f**\u4e4f\u3057\u3044\uff08\u76ee\u7acb\u305f\u306a\u3044\uff09**\u3053\u3068\u304c\u591a\u304f\u3001\u898b\u305f\u76ee\u3060\u3051\u3067\u3053\u306e\u75be\u60a3\u3092\u7591\u3046\u3053\u3068\u306f\u56f0\u96e3\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u8efd\u5fae\u306a\u7279\u5fb4:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u5f37\u3044\u3066\u6319\u3052\u308c\u3070\u3001\u9ad8\u3044\u984d\u3001\u6df1\u3044\u304f\u307c\u3093\u3060\u76ee\u3001\u5927\u304d\u306a\u8033\u306a\u3069\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u304c\u3001\u5bb6\u65cf\u306b\u4f3c\u3066\u3044\u308b\u7bc4\u56f2\u5185\u3067\u3042\u308b\u3053\u3068\u304c\u307b\u3068\u3093\u3069\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u982d\u56f2:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u5927\u982d\u75c7\uff08\u982d\u304c\u5927\u304d\u3044\uff09\u307e\u305f\u306f\u5c0f\u982d\u75c7\uff08\u982d\u304c\u5927\u304d\u3044\uff09\u306e\u5831\u544a\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u4e00\u5b9a\u3057\u307e\u305b\u3093\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>\u4e73\u5e7c\u5150\u671f\u306b\u4f53\u304c\u5c11\u3057\u67d4\u3089\u304b\u3044\u3001\u904b\u52d5\u767a\u9054\uff08\u6b69\u884c\u306a\u3069\uff09\u304c\u3084\u3084\u9045\u308c\u308b\u3068\u3044\u3063\u305f\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u3066\u3093\u304b\u3093:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u7d0410\u301c20%\u7a0b\u5ea6\u306e\u60a3\u8005\u3055\u3093\u3067\u3051\u3044\u308c\u3093\u767a\u4f5c\u304c\u898b\u3089\u308c\u307e\u3059\u3002\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>4. \u305d\u306e\u4ed6\u306e\u5408\u4f75\u75c7<\/strong><\/p>\n\n\n\n<p>\u5185\u81d3\u306e\u5947\u5f62\u3092\u5408\u4f75\u3059\u308b\u3053\u3068\u306f\u7a00\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u9aa8\u683c:<\/strong> \u5074\u5f2f\u75c7\u3084\u95a2\u7bc0\u306e\u904e\u4f38\u5c55\uff08\u4f53\u304c\u67d4\u3089\u304b\u3044\uff09\u3002<\/li>\n\n\n\n<li><strong>\u305d\u306e\u4ed6:<\/strong> \u7761\u7720\u969c\u5bb3\u3001\u80a5\u6e80\u50be\u5411\u306a\u3069\u304c\u5831\u544a\u3055\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u5fc5\u9808\u306e\u75c7\u72b6\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u539f\u56e0<\/strong><\/h2>\n\n\n\n<p>**2\u756a\u67d3\u8272\u4f53\u77ed\u8155\uff082p16.3\uff09\u306b\u304a\u3051\u308bNRXN1\u907a\u4f1d\u5b50\u306e\u6b20\u5931\uff08\u30cf\u30d7\u30ed\u4e0d\u5168\uff09**\u304c\u539f\u56e0\u3067\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u30b7\u30ca\u30d7\u30b9\u6a5f\u80fd\u4e0d\u5168\uff08Synaptopathy\uff09<\/strong><\/p>\n\n\n\n<p>\u3053\u306e\u75be\u60a3\u306e\u672c\u8cea\u306f\u3001\u67d3\u8272\u4f53\u7570\u5e38\u3067\u3042\u308b\u3068\u540c\u6642\u306b**\u300c\u30b7\u30ca\u30d7\u30b9\u75c5\uff08\u30b7\u30ca\u30d7\u30c8\u30d1\u30c1\u30fc\uff09\u300d**\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u901a\u5e382\u3064\u3042\u308b<em>NRXN1<\/em>\u907a\u4f1d\u5b50\u304c1\u3064\u6b20\u5931\u3059\u308b\u3053\u3068\u3067\u3001\u30cb\u30e5\u30fc\u30ec\u30ad\u30b7\u30f3\u30bf\u30f3\u30d1\u30af\u8cea\u306e\u91cf\u304c\u4e0d\u8db3\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u3053\u308c\u306b\u3088\u308a\u3001\u8133\u306e\u767a\u9054\u671f\u306b\u304a\u3044\u3066\u795e\u7d4c\u7d30\u80de\u540c\u58eb\u306e\u63a5\u7d9a\uff08\u30b7\u30ca\u30d7\u30b9\uff09\u304c\u4e0d\u5b89\u5b9a\u306b\u306a\u3063\u305f\u308a\u3001\u8208\u596e\u3068\u6291\u5236\u306e\u30d0\u30e9\u30f3\u30b9\uff08E\/I\u30d0\u30e9\u30f3\u30b9\uff09\u304c\u5d29\u308c\u305f\u308a\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u3053\u306e\u300c\u5fae\u7d30\u306a\u914d\u7dda\u306e\u4e0d\u5177\u5408\u300d\u304c\u3001\u8a00\u8449\u306e\u9045\u308c\u3084\u3001\u793e\u4f1a\u6027\u306e\u554f\u984c\u3001\u3042\u308b\u3044\u306f\u5c06\u6765\u7684\u306a\u7cbe\u795e\u75be\u60a3\u306e\u30ea\u30b9\u30af\u3068\u3057\u3066\u73fe\u308c\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u907a\u4f1d\u5f62\u5f0f\u3068\u4e0d\u5b8c\u5168\u6d78\u900f<\/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>\u60a3\u8005\u3055\u3093\u306e\u4e00\u90e8\u306f\u3001\u4e21\u89aa\u304b\u3089\u306e\u907a\u4f1d\u3067\u306f\u306a\u304f\u3001\u7a81\u7136\u5909\u7570\u3067\u767a\u751f\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u5bb6\u65cf\u6027\uff08Inherited\uff09\u306e\u983b\u5ea6\u304c\u9ad8\u3044:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u3053\u3053\u304c\u975e\u5e38\u306b\u91cd\u8981\u306a\u30dd\u30a4\u30f3\u30c8\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u672c\u75be\u60a3\u306f\u3001**\u300c\u89aa\u304b\u3089\u306e\u907a\u4f1d\u300d**\u3067\u3042\u308b\u30b1\u30fc\u30b9\u304c\u975e\u5e38\u306b\u591a\u3044\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u89aa\u81ea\u8eab\u3082\u540c\u3058\u6b20\u5931\u3092\u6301\u3063\u3066\u3044\u307e\u3059\u304c\u3001\u89aa\u306f\u300c\u7121\u75c7\u72b6\uff08\u5065\u5e38\uff09\u300d\u3067\u3042\u3063\u305f\u308a\u3001\u300c\u5c11\u3057\u5185\u6c17\u306a\u6027\u683c\u300d\u300c\u52c9\u5f37\u304c\u82e6\u624b\u3060\u3063\u305f\u300d\u7a0b\u5ea6\u3067\u3042\u3063\u305f\u308a\u3057\u3066\u3001\u8a3a\u65ad\u3055\u308c\u3066\u3044\u306a\u3044\u3053\u3068\u304c\u3088\u304f\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u3053\u308c\u3092**\u300c\u4e0d\u5b8c\u5168\u6d78\u900f\uff08Incomplete Penetrance\uff09\u300d**\u3068\u547c\u3073\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u3064\u307e\u308a\u30012p16.3\u6b20\u5931\u306f\u3001\u300c\u6301\u3063\u3066\u3044\u308b\u3068\u5fc5\u305a\u75c5\u6c17\u306b\u306a\u308b\u300d\u3068\u3044\u3046\u6c7a\u5b9a\u7684\u306a\u56e0\u5b50\u3068\u3044\u3046\u3088\u308a\u306f\u3001**\u300c\u795e\u7d4c\u767a\u9054\u75c7\u306b\u306a\u308a\u3084\u3059\u304f\u306a\u308b\u5f37\u529b\u306a\u30ea\u30b9\u30af\u56e0\u5b50\uff08\u611f\u53d7\u6027\u56e0\u5b50\uff09\u300d**\u3068\u3057\u3066\u50cd\u304f\u3068\u8003\u3048\u3089\u308c\u3066\u3044\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>\u8eab\u4f53\u7684\u306a\u7279\u5fb4\u304c\u5c11\u306a\u3044\u305f\u3081\u3001\u5916\u898b\u304b\u3089\u306f\u8a3a\u65ad\u3067\u304d\u307e\u305b\u3093\u3002\u767a\u9054\u306e\u9045\u308c\u3084\u81ea\u9589\u50be\u5411\u306e\u7cbe\u67fb\u3068\u3057\u3066\u907a\u4f1d\u5b66\u7684\u691c\u67fb\u304c\u884c\u308f\u308c\u3001\u767a\u898b\u3055\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>\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>2p16.3\u9818\u57df\uff08\u7279\u306b<em>NRXN1<\/em>\u907a\u4f1d\u5b50\u90e8\u5206\uff09\u306e\u6b20\u5931\u3092\u78ba\u5b9f\u306b\u691c\u51fa\u3067\u304d\u307e\u3059\u3002<\/li>\n\n\n\n<li><em>NRXN1<\/em>\u907a\u4f1d\u5b50\u5185\u306e\u7279\u5b9a\u306e\u30a8\u30af\u30bd\u30f3\uff08\u65ad\u7247\uff09\u3060\u3051\u304c\u6b20\u5931\u3057\u3066\u3044\u308b\u3088\u3046\u306a\u5fae\u7d30\u306a\u5909\u5316\u3082\u691c\u51fa\u53ef\u80fd\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u4e21\u89aa\u306e\u89e3\u6790\uff08Parental Testing\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u304a\u5b50\u3055\u3093\u306b\u6b20\u5931\u304c\u898b\u3064\u304b\u3063\u305f\u5834\u5408\u3001\u4e21\u89aa\u306e\u691c\u67fb\u3092\u884c\u3046\u3053\u3068\u304c<strong>\u5f37\u304f\u63a8\u5968<\/strong>\u3055\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u89aa\u304c\u540c\u3058\u6b20\u5931\u3092\u6301\u3063\u3066\u3044\u305f\u5834\u5408\u3001\u305d\u306e\u89aa\u306e\u5065\u5eb7\u72b6\u614b\u3084\u7279\u6027\uff08\u8efd\u5ea6\u306e\u5b66\u7fd2\u969c\u5bb3\u306a\u3069\uff09\u306f\u3001\u304a\u5b50\u3055\u3093\u306e\u5c06\u6765\u3092\u4e88\u6e2c\u3059\u308b\u4e0a\u3067\u91cd\u8981\u306a\u53c2\u8003\u60c5\u5831\u3068\u306a\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u89aa\u304c\u5065\u5e38\u3067\u3042\u308c\u3070\u3001\u304a\u5b50\u3055\u3093\u3082\u91cd\u7be4\u306a\u969c\u5bb3\u3092\u6301\u305f\u305a\u306b\u6210\u9577\u3059\u308b\u53ef\u80fd\u6027\uff08\u826f\u6027\u306a\u7d4c\u904e\uff09\u3082\u5341\u5206\u306b\u3042\u308b\u3068\u8003\u3048\u3089\u308c\u307e\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\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u6cbb\u7642\u306f\u3001\u75c7\u72b6\u306b\u5fdc\u3058\u305f\u5bfe\u75c7\u7642\u6cd5\u3068\u3001\u7279\u6027\u306b\u5408\u308f\u305b\u305f\u7642\u80b2\u30fb\u74b0\u5883\u8abf\u6574\u304c\u4e2d\u5fc3\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u767a\u9054\u30fb\u7642\u80b2\u7684\u652f\u63f4<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u65e9\u671f\u7642\u80b2:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8a00\u8449\u306e\u9045\u308c\u3084\u793e\u4f1a\u6027\u306e\u8ab2\u984c\u306b\u5bfe\u3057\u3001\u3067\u304d\u308b\u3060\u3051\u65e9\u671f\u304b\u3089\u4ecb\u5165\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\u8a9e\u767a\u9054\u9045\u6ede\u306b\u5bfe\u3057\u3001\u500b\u5225\u306e\u6307\u5c0e\u3092\u884c\u3044\u307e\u3059\u3002\u7d75\u30ab\u30fc\u30c9\u3084\u8996\u899a\u652f\u63f4\u3092\u7528\u3044\u305f\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u6307\u5c0e\u304c\u6709\u52b9\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u30bd\u30fc\u30b7\u30e3\u30eb\u30b9\u30ad\u30eb\u30c8\u30ec\u30fc\u30cb\u30f3\u30b0\uff08SST\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>ASD\u7279\u6027\u306b\u5bfe\u3057\u3001\u96c6\u56e3\u751f\u6d3b\u306e\u30eb\u30fc\u30eb\u3084\u5bfe\u4eba\u95a2\u4fc2\u306e\u30b9\u30ad\u30eb\u3092\u5b66\u3073\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u5b66\u7fd2\u652f\u63f4:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u77e5\u7684\u969c\u5bb3\u304c\u306a\u3044\u5834\u5408\u3067\u3082\u3001\u5b66\u7fd2\u969c\u5bb3\u3084ADHD\u50be\u5411\u304c\u3042\u308b\u5834\u5408\u306f\u3001\u5b66\u6821\u3067\u306e\u500b\u5225\u652f\u63f4\uff08\u901a\u7d1a\u6307\u5c0e\u306a\u3069\uff09\u3092\u6d3b\u7528\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u7cbe\u795e\u533b\u5b66\u7684\u30b5\u30fc\u30d9\u30a4\u30e9\u30f3\u30b9\uff08\u4e88\u9632\u3068\u65e9\u671f\u4ecb\u5165\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u30e1\u30f3\u30bf\u30eb\u30d8\u30eb\u30b9:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u601d\u6625\u671f\u4ee5\u964d\u3001\u30b9\u30c8\u30ec\u30b9\u306b\u5f31\u304f\u306a\u3063\u305f\u308a\u3001\u6c17\u5206\u306e\u6ce2\u304c\u51fa\u305f\u308a\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u7d71\u5408\u5931\u8abf\u75c7\u306a\u3069\u306e\u7cbe\u795e\u75be\u60a3\u306e\u30ea\u30b9\u30af\u304c\u3042\u308b\u3053\u3068\u3092\u5ff5\u982d\u306b\u7f6e\u304d\u3001**\u300c\u4e88\u9632\u7684\u306a\u30b9\u30c8\u30ec\u30b9\u30b1\u30a2\u300d<strong>\u3084<\/strong>\u300c\u65e9\u671f\u767a\u898b\u300d**\u306b\u52aa\u3081\u308b\u3053\u3068\u304c\u91cd\u8981\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u4e0d\u7720\u3001\u904e\u5ea6\u306a\u4e0d\u5b89\u3001\u5f15\u304d\u3053\u3082\u308a\u3001\u5e7b\u8074\u306a\u3069\u306e\u30b5\u30a4\u30f3\u304c\u3042\u308c\u3070\u3001\u65e9\u3081\u306b\u5150\u7ae5\u7cbe\u795e\u79d1\u3084\u7cbe\u795e\u79d1\u306b\u76f8\u8ac7\u3057\u307e\u3059\u3002\u65e9\u671f\u306b\u6cbb\u7642\u3092\u958b\u59cb\u3059\u308b\u3053\u3068\u3067\u3001\u4e88\u5f8c\u3092\u5927\u304d\u304f\u6539\u5584\u3067\u304d\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u5bb6\u65cf\u652f\u63f4\u3068\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u300c\u89aa\u304b\u3089\u907a\u4f1d\u3057\u305f\u300d\u5834\u5408\u306e\u30b1\u30a2:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u89aa\u5fa1\u3055\u3093\u304c\u81ea\u5206\u3092\u8cac\u3081\u3066\u3057\u307e\u3046\u3053\u3068\u304c\u3088\u304f\u3042\u308a\u307e\u3059\u3002\u3057\u304b\u3057\u3001\u3053\u308c\u306f\u8ab0\u306e\u305b\u3044\u3067\u3082\u306a\u3044\u81ea\u7136\u306a\u73fe\u8c61\u3067\u3042\u308a\u3001\u89aa\u5fa1\u3055\u3093\u304c\u3053\u308c\u307e\u3067\u793e\u4f1a\u751f\u6d3b\u3092\u9001\u308c\u3066\u304d\u305f\u3068\u3044\u3046\u4e8b\u5b9f\u306f\u3001\u304a\u5b50\u3055\u3093\u306b\u3068\u3063\u3066\u3082\u5e0c\u671b\u306e\u3042\u308b\u60c5\u5831\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u300c\u907a\u4f1d\u5b50\u306e\u6b20\u5931\u300d\u3092\u300c\u75c5\u6c17\u300d\u3068\u6349\u3048\u3059\u304e\u305a\u3001\u300c\u8133\u306e\u30bf\u30a4\u30d7\uff08\u30cb\u30e5\u30fc\u30ed\u30c0\u30a4\u30d0\u30fc\u30b7\u30c6\u30a3\uff09\u300d\u306e\u4e00\u3064\u3068\u3057\u3066\u6349\u3048\u3001\u305d\u306e\u5b50\u306b\u5408\u3063\u305f\u74b0\u5883\u3092\u6574\u3048\u308b\u3053\u3068\u304c\u5927\u5207\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u307e\u3068\u3081<\/strong><\/h2>\n\n\n\n<p>2p16.3 deletion syndrome\u306f\u30012\u756a\u67d3\u8272\u4f53\u306e\u4e00\u90e8\u3001\u7279\u306b\u8133\u306e\u30b7\u30ca\u30d7\u30b9\u306b\u95a2\u308f\u308bNRXN1\u3068\u3044\u3046\u907a\u4f1d\u5b50\u304c\u6b20\u5931\u3059\u308b\u3053\u3068\u3067\u751f\u3058\u308b\u4f53\u8cea\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u8a3a\u65ad\u3092\u53d7\u3051\u308b\u3068\u3001\u300c\u67d3\u8272\u4f53\u7570\u5e38\u300d\u3068\u3044\u3046\u8a00\u8449\u306b\u9a5a\u304b\u308c\u308b\u304b\u3082\u3057\u308c\u307e\u305b\u3093\u304c\u3001\u3053\u306e\u6b20\u5931\u306f\u3001\u5916\u898b\u304b\u3089\u306f\u5206\u304b\u3089\u305a\u3001\u5185\u81d3\u306e\u75c5\u6c17\u3082\u5c11\u306a\u3044\u306e\u304c\u7279\u5fb4\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u4e3b\u306a\u75c7\u72b6\u306f\u3001\u300c\u8a00\u8449\u304c\u3086\u3063\u304f\u308a\u300d\u300c\u3053\u3060\u308f\u308a\u304c\u5f37\u3044\u300d\u300c\u4eba\u4ed8\u304d\u5408\u3044\u304c\u82e6\u624b\u300d\u3068\u3044\u3063\u305f\u3001\u767a\u9054\u3084\u884c\u52d5\u306e\u9762\u306b\u73fe\u308c\u307e\u3059\u3002\u3044\u308f\u3086\u308b\u300c\u81ea\u9589\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u75c7\u300d\u306e\u8a3a\u65ad\u3092\u53d7\u3051\u308b\u304a\u5b50\u3055\u3093\u3082\u591a\u3044\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u307e\u305f\u3001\u3053\u306e\u6b20\u5931\u3092\u6301\u3063\u3066\u3044\u3066\u3082\u3001\u5168\u304f\u75c7\u72b6\u304c\u306a\u304f\u3001\u5143\u6c17\u306b\u793e\u4f1a\u3067\u6d3b\u8e8d\u3057\u3066\u3044\u308b\u4eba\uff08\u89aa\u5fa1\u3055\u3093\u3092\u542b\u3080\uff09\u304c\u305f\u304f\u3055\u3093\u3044\u307e\u3059\u3002\u3064\u307e\u308a\u3001\u3053\u306e\u6b20\u5931\u304c\u3042\u308b\u304b\u3089\u3068\u3044\u3063\u3066\u3001\u5c06\u6765\u304c\u60b2\u89b3\u7684\u306a\u3082\u306e\u3067\u6c7a\u5b9a\u3065\u3051\u3089\u308c\u3066\u3044\u308b\u308f\u3051\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u5927\u5207\u306a\u306e\u306f\u3001\u3053\u306e\u6b20\u5931\u304c\u300c\u8133\u306e\u60c5\u5831\u306e\u4f1d\u3048\u65b9\u304c\u5c11\u3057\u72ec\u7279\u3067\u3042\u308b\u300d\u3053\u3068\u3092\u793a\u3057\u3066\u3044\u308b\u3068\u7406\u89e3\u3059\u308b\u3053\u3068\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u5c0f\u3055\u3044\u9803\u306f\u3001\u8a00\u8449\u306e\u7df4\u7fd2\u3084\u7642\u80b2\u3067\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u306e\u529b\u3092\u80b2\u3066\u307e\u3057\u3087\u3046\u3002\u601d\u6625\u671f\u4ee5\u964d\u306f\u3001\u5fc3\u306e\u30d0\u30e9\u30f3\u30b9\u3092\u5d29\u3055\u306a\u3044\u3088\u3046\u3001\u30b9\u30c8\u30ec\u30b9\u3092\u6e9c\u3081\u306a\u3044\u74b0\u5883\u4f5c\u308a\u3092\u5fc3\u304c\u3051\u307e\u3057\u3087\u3046\u3002<\/p>\n\n\n\n<p>\u304a\u5b50\u3055\u3093\u306e\u300c\u82e6\u624b\u300d\u3092\u30b5\u30dd\u30fc\u30c8\u3057\u3001\u300c\u5f97\u610f\u300d\u3092\u4f38\u3070\u3057\u3066\u3044\u304f\u3053\u3068\u3067\u3001\u305d\u306e\u5b50\u3089\u3057\u3044\u8c4a\u304b\u306a\u4eba\u751f\u3092\u9001\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\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>Ching, M.S., et al.<\/strong> (2010). <em>Deletions of NRXN1 (neurexin-1) predispose to a wide spectrum of developmental disorders.<\/em> American Journal of Medical Genetics Part B.\n<ul class=\"wp-block-list\">\n<li>(\u203bNRXN1\u6b20\u5931\u3092\u6301\u3064\u591a\u6570\u306e\u60a3\u8005\u3092\u89e3\u6790\u3057\u3001\u81ea\u9589\u75c7\u3001\u77e5\u7684\u969c\u5bb3\u3001\u8a00\u8a9e\u969c\u5bb3\u3001\u7b4b\u7dca\u5f35\u4f4e\u4e0b\u306a\u3069\u306e\u81e8\u5e8a\u30b9\u30da\u30af\u30c8\u30e9\u30e0\uff08\u75c7\u72b6\u306e\u5e45\uff09\u3092\u8a73\u7d30\u306b\u5831\u544a\u3057\u305f\u91cd\u8981\u8ad6\u6587\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Rujescu, D., et al.<\/strong> (2009). <em>Disruption of the neurexin 1 gene is associated with schizophrenia.<\/em> Human Molecular Genetics.\n<ul class=\"wp-block-list\">\n<li>(\u203b\u5927\u898f\u6a21\u306a\u907a\u4f1d\u5b66\u7684\u7814\u7a76\u306b\u3088\u308a\u3001NRXN1\u907a\u4f1d\u5b50\u306e\u6b20\u5931\u304c\u7d71\u5408\u5931\u8abf\u75c7\u306e\u5f37\u529b\u306a\u30ea\u30b9\u30af\u56e0\u5b50\u3067\u3042\u308b\u3053\u3068\u3092\u78ba\u7acb\u3057\u305f\u7814\u7a76\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Lowther, C., et al.<\/strong> (2017). <em>Delineating the 2p16.3 deletion phenotype: Genotype-phenotype correlations in a cohort of 20 patients.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203b2p16.3\u6b20\u5931\u60a3\u8005\u306e\u81e8\u5e8a\u50cf\u3092\u307e\u3068\u3081\u3001\u8eab\u4f53\u7684\u5947\u5f62\u304c\u5c11\u306a\u3044\u3053\u3068\u3084\u3001\u4e0d\u5b8c\u5168\u6d78\u900f\uff08\u907a\u4f1d\u6027\uff09\u306e\u983b\u5ea6\u304c\u9ad8\u3044\u3053\u3068\u3092\u5f37\u8abf\u3057\u305f\u6587\u732e\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Boni, C., et al.<\/strong> (2018). <em>Paternal transmission of a 2p16.3 deletion involving the NRXN1 gene in a family with autism spectrum disorder and schizophrenia.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203b\u540c\u4e00\u5bb6\u7cfb\u5185\u3067\u3001\u540c\u3058NRXN1\u6b20\u5931\u3092\u6301\u3063\u3066\u3044\u3066\u3082\u3001\u3042\u308b\u4eba\u306f\u81ea\u9589\u75c7\u3001\u3042\u308b\u4eba\u306f\u7d71\u5408\u5931\u8abf\u75c7\u3001\u3042\u308b\u4eba\u306f\u5065\u5e38\u3067\u3042\u308b\u3068\u3044\u3046\u300c\u53ef\u5909\u8868\u73fe\u6027\u300d\u3092\u5831\u544a\u3057\u305f\u30b1\u30fc\u30b9\u30b9\u30bf\u30c7\u30a3\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Unique (Rare Chromosome Disorder Support Group)<\/strong>: <em>2p16.3 (NRXN1) deletions<\/em> (2019).\n<ul class=\"wp-block-list\">\n<li>(\u203b\u60a3\u8005\u5bb6\u65cf\u5411\u3051\u306b\u3001\u75c7\u72b6\u3001\u4e0d\u5b8c\u5168\u6d78\u900f\u306e\u6982\u5ff5\u3001\u30e9\u30a4\u30d5\u30b9\u30c6\u30fc\u30b8\u3054\u3068\u306e\u5bfe\u5fdc\uff08\u30e1\u30f3\u30bf\u30eb\u30d8\u30eb\u30b9\u542b\u3080\uff09\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>ClinGen Dosage Sensitivity Curation<\/strong>: <em>NRXN1<\/em>.\n<ul class=\"wp-block-list\">\n<li>(\u203bNRXN1\u907a\u4f1d\u5b50\u306e\u30cf\u30d7\u30ed\u4e0d\u5168\uff08\u6b20\u5931\uff09\u304c\u795e\u7d4c\u767a\u9054\u969c\u5bb3\u306e\u30ea\u30b9\u30af\u3068\u306a\u308b\u3053\u3068\u306e\u79d1\u5b66\u7684\u6839\u62e0\u8a55\u4fa1\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> 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