{"id":16702,"date":"2026-01-20T00:14:22","date_gmt":"2026-01-20T00:14:22","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/gene\/?post_type=genetic-screening&#038;p=16702"},"modified":"2026-01-20T00:22:47","modified_gmt":"2026-01-20T00:22:47","slug":"16p13-2-deletion-syndrome","status":"publish","type":"genetic-screening","link":"https:\/\/www.hiro-clinic.or.jp\/gene\/genetic-screening\/16p13-2-deletion-syndrome\/","title":{"rendered":"16p13.2 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>16p13.2\u6b20\u5931\u75c7\u5019\u7fa4<\/li>\n\n\n\n<li>16p13.2\u5fae\u7d30\u6b20\u5931\u75c7\u5019\u7fa4\uff0816p13.2 microdeletion syndrome\uff09<\/li>\n\n\n\n<li>Hao-Fountain\u75c7\u5019\u7fa4\uff08Hao-Fountain syndrome; HAFOUS\uff09\u203b<\/li>\n\n\n\n<li>USP7\u95a2\u9023\u795e\u7d4c\u767a\u9054\u969c\u5bb3\uff08USP7-related neurodevelopmental disorder\uff09<\/li>\n\n\n\n<li>16p13.2\u30e2\u30ce\u30bd\u30df\u30fc\uff08Monosomy 16p13.2\uff09<\/li>\n\n\n\n<li>\u95a2\u9023\uff1aGRIN2A\u95a2\u9023\u8a00\u8a9e\u969c\u5bb3\u30fb\u3066\u3093\u304b\u3093\uff08GRIN2A-related speech disorders and epilepsy\uff09<\/li>\n<\/ul>\n\n\n\n<p>\u203b\u91cd\u8981\u306a\u6ce8\u91c8\uff1a<\/p>\n\n\n\n<p>\u8fd1\u5e74\u306e\u907a\u4f1d\u5b66\u7814\u7a76\u306b\u3088\u308a\u300116p13.2\u9818\u57df\u306b\u542b\u307e\u308c\u308bUSP7\u907a\u4f1d\u5b50\u306e\u6b20\u5931\u304c\u3001\u3053\u306e\u75c7\u5019\u7fa4\u306e\u4e3b\u8981\u306a\u75c7\u72b6\uff08\u767a\u9054\u9045\u6ede\u3001\u77e5\u7684\u969c\u5bb3\u3001\u7279\u5fb4\u7684\u306a\u9854\u8c8c\u306a\u3069\uff09\u3092\u5f15\u304d\u8d77\u3053\u3059\u4e2d\u5fc3\u7684\u306a\u539f\u56e0\u3067\u3042\u308b\u3053\u3068\u304c\u5224\u660e\u3057\u307e\u3057\u305f\u3002\u305d\u306e\u305f\u3081\u3001\u73fe\u5728\u3067\u306f\u3053\u306e\u9818\u57df\u306e\u6b20\u5931\u306f\u3001\u81e8\u5e8a\u7684\u306b\u300cHao-Fountain\uff08\u30cf\u30aa\u30fb\u30d5\u30a1\u30a6\u30f3\u30c6\u30f3\uff09\u75c7\u5019\u7fa4\u300d\u3068\u8a3a\u65ad\u30fb\u5206\u985e\u3055\u308c\u308b\u3053\u3068\u304c\u5897\u3048\u3066\u3044\u307e\u3059\u3002\u672c\u8a18\u4e8b\u3067\u306f\u3053\u306e\u6700\u65b0\u306e\u77e5\u898b\u306b\u57fa\u3065\u3044\u3066\u89e3\u8aac\u3057\u307e\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>16\u756a\u67d3\u8272\u4f53 \u77ed\u8155\uff08p\uff0913.2\u9818\u57df<\/strong><\/p>\n\n\n\n<p>\u672c\u75be\u60a3\u306f\u300116\u756a\u67d3\u8272\u4f53\u306e\u77ed\u8155\u306b\u3042\u308b\u300c13.2\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><strong>\u3010\u30b2\u30ce\u30e0\u4e0a\u306e\u8a73\u7d30\u3011<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u4f4d\u7f6e:<\/strong> 16\u756a\u67d3\u8272\u4f53\u306e\u77ed\u8155\u306e\u4e2d\u307b\u3069\u306b\u4f4d\u7f6e\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6b20\u5931\u30b5\u30a4\u30ba:<\/strong> \u60a3\u8005\u3055\u3093\u306b\u3088\u3063\u3066\u6b20\u5931\u306e\u5927\u304d\u3055\u306f\u7570\u306a\u308a\u307e\u3059\u3002\u6570\u5341\u30ad\u30ed\u30d9\u30fc\u30b9\uff08kb\uff09\u306e\u5c0f\u3055\u306a\u6b20\u5931\u304b\u3089\u3001\u6570\u30e1\u30ac\u30d9\u30fc\u30b9\uff08Mb\uff09\u306b\u53ca\u3076\u5927\u304d\u306a\u6b20\u5931\u307e\u3067\u69d8\u3005\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u542b\u307e\u308c\u308b\u91cd\u8981\u306a\u907a\u4f1d\u5b50:<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>USP7 (Ubiquitin Specific Peptidase 7):<\/strong> \u30bf\u30f3\u30d1\u30af\u8cea\u306e\u5206\u89e3\u3084\u5236\u5fa1\uff08\u30e6\u30d3\u30ad\u30c1\u30f3\u5316\u30fb\u8131\u30e6\u30d3\u30ad\u30c1\u30f3\u5316\uff09\u306b\u95a2\u308f\u308b\u975e\u5e38\u306b\u91cd\u8981\u306a\u9175\u7d20\u3092\u4f5c\u308a\u307e\u3059\u3002\u3053\u306e\u907a\u4f1d\u5b50\u306e\u6a5f\u80fd\u55aa\u5931\u304c\u3001\u672c\u75c7\u5019\u7fa4\u306e\u4e2d\u6838\u7684\u306a\u75c7\u72b6\uff08Hao-Fountain\u75c7\u5019\u7fa4\uff09\u306e\u539f\u56e0\u3068\u306a\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>GRIN2A:<\/strong> \u8133\u5185\u306e\u795e\u7d4c\u4f1d\u9054\uff08NMDA\u578b\u30b0\u30eb\u30bf\u30df\u30f3\u9178\u53d7\u5bb9\u4f53\uff09\u306b\u95a2\u308f\u308b\u907a\u4f1d\u5b50\u3067\u3059\u3002\u3053\u306e\u907a\u4f1d\u5b50\u304c\u6b20\u5931\u7bc4\u56f2\u306b\u542b\u307e\u308c\u308b\u5834\u5408\u3001\u3066\u3093\u304b\u3093\u3084\u91cd\u5ea6\u306e\u8a00\u8a9e\u969c\u5bb3\u306e\u30ea\u30b9\u30af\u304c\u9ad8\u307e\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>C16orf13:<\/strong> \u6a5f\u80fd\u306f\u5b8c\u5168\u306b\u306f\u89e3\u660e\u3055\u308c\u3066\u3044\u307e\u305b\u3093\u304c\u3001\u3053\u306e\u9818\u57df\u306b\u542b\u307e\u308c\u308b\u907a\u4f1d\u5b50\u306e\u4e00\u3064\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p>\u6b20\u5931\u306e\u7bc4\u56f2\u304c\u3069\u3053\u304b\u3089\u3069\u3053\u307e\u3067\u53ca\u3093\u3067\u3044\u308b\u304b\u306b\u3088\u3063\u3066\u3001\u5408\u4f75\u75c7\u306e\u30ea\u30b9\u30af\uff08\u7279\u306b\u3066\u3093\u304b\u3093\u306e\u6709\u7121\u306a\u3069\uff09\u304c\u5909\u308f\u3063\u3066\u304f\u308b\u306e\u304c\u7279\u5fb4\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\uff08Ultra-rare\uff09<\/strong><\/p>\n\n\n\n<p>16p13.2\u6b20\u5931\u75c7\u5019\u7fa4\u306f\u3001\u5e0c\u5c11\u75be\u60a3\uff08Rare Disease\uff09\u306e\u4e2d\u3067\u3082\u7279\u306b\u983b\u5ea6\u304c\u4f4e\u3044\u75be\u60a3\u306e\u4e00\u3064\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u6b63\u78ba\u306a\u75ab\u5b66\u7684\u306a\u983b\u5ea6\u306f\u78ba\u7acb\u3055\u308c\u3066\u3044\u307e\u305b\u3093\u304c\u3001\u4e16\u754c\u7684\u306a\u5831\u544a\u6570\u306f\u6570\u767e\u4f8b\u672a\u6e80\u306e\u30aa\u30fc\u30c0\u30fc\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3057\u304b\u3057\u3001\u8fd1\u5e74\u306e\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u67d3\u8272\u4f53\u691c\u67fb\uff08CMA\uff09\u3084\u5168\u30a8\u30af\u30bd\u30fc\u30e0\u89e3\u6790\uff08WES\uff09\u306e\u666e\u53ca\u306b\u3088\u308a\u3001\u539f\u56e0\u4e0d\u660e\u306e\u767a\u9054\u9045\u6ede\u3084\u77e5\u7684\u969c\u5bb3\u3068\u3055\u308c\u3066\u3044\u305f\u65b9\u306e\u4e2d\u304b\u3089\u767a\u898b\u3055\u308c\u308b\u30b1\u30fc\u30b9\u304c\u5f90\u3005\u306b\u5897\u3048\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>16p13.2\u6b20\u5931\u75c7\u5019\u7fa4\u306e\u75c7\u72b6\u306f\u591a\u5c90\u306b\u308f\u305f\u308a\u307e\u3059\u304c\u3001\u7279\u306b\u300c\u767a\u9054\u306e\u9045\u308c\u300d\u300c\u8a00\u8449\u306e\u554f\u984c\u300d\u300c\u6d88\u5316\u5668\u75c7\u72b6\u300d\u300c\u7279\u5fb4\u7684\u306a\u9854\u8c8c\u300d\u304c\u4e2d\u6838\u7684\u306a\u7279\u5fb4\u3068\u3057\u3066\u6319\u3052\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u75c7\u72b6\u306e\u73fe\u308c\u65b9\u3084\u91cd\u75c7\u5ea6\u306b\u306f\u500b\u4eba\u5dee\uff08\u53ef\u5909\u8868\u73fe\u6027\uff09\u304c\u3042\u308a\u307e\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\u3066\u306e\u60a3\u8005\u3055\u3093\u306b\u304a\u3044\u3066\u3001\u4f55\u3089\u304b\u306e\u767a\u9054\u3078\u306e\u5f71\u97ff\u304c\u898b\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5168\u822c\u7684\u306a\u767a\u9054\u9045\u6ede\uff08GDD\uff09:<\/strong> \u9996\u3059\u308f\u308a\u3001\u304a\u5ea7\u308a\u3001\u6b69\u884c\u958b\u59cb\u306a\u3069\u306e\u904b\u52d5\u767a\u9054\u306e\u30de\u30a4\u30eb\u30b9\u30c8\u30fc\u30f3\u304c\u9045\u308c\u308b\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u3002\u6b69\u884c\u958b\u59cb\u304c2\u6b73\u301c3\u6b73\u4ee5\u964d\u306b\u306a\u308b\u3053\u3068\u3082\u73cd\u3057\u304f\u3042\u308a\u307e\u305b\u3093\u3002<\/li>\n\n\n\n<li><strong>\u77e5\u7684\u969c\u5bb3\uff08ID\uff09:<\/strong> \u8efd\u5ea6\u304b\u3089\u91cd\u5ea6\u307e\u3067\u5e45\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u4e2d\u7b49\u5ea6\u306e\u77e5\u7684\u969c\u5bb3\u3092\u4f34\u3046\u3053\u3068\u304c\u591a\u3044\u3068\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u8a00\u8a9e\u767a\u9054\u306e\u8457\u3057\u3044\u9045\u308c:<\/strong> \u672c\u75be\u60a3\u306e\u5927\u304d\u306a\u7279\u5fb4\u306e\u4e00\u3064\u3067\u3059\u3002\n<ul class=\"wp-block-list\">\n<li>\u8a00\u8449\u306e\u7406\u89e3\uff08\u53d7\u5bb9\u8a00\u8a9e\uff09\u306b\u6bd4\u3079\u3066\u3001\u8a71\u3059\u3053\u3068\uff08\u8868\u51fa\u8a00\u8a9e\uff09\u304c\u7279\u306b\u82e6\u624b\u306a\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u767a\u8a9e\u5931\u884c\uff08Apraxia of speech\uff09:<\/strong> \u8a00\u3044\u305f\u3044\u97f3\u3092\u3046\u307e\u304f\u4f5c\u308c\u306a\u3044\u75c7\u72b6\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u5168\u304f\u8a00\u8449\u304c\u51fa\u306a\u3044\uff08Non-verbal\uff09\u5834\u5408\u3084\u3001\u6570\u8a9e\u306e\u5358\u8a9e\u306e\u307f\u3067\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u3092\u3068\u308b\u5834\u5408\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u884c\u52d5\u30fb\u7cbe\u795e\u9762\u306e\u7279\u6027<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u81ea\u9589\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u75c7\uff08ASD\uff09:<\/strong> \u793e\u4f1a\u7684\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u306e\u96e3\u3057\u3055\u3084\u3001\u3053\u3060\u308f\u308a\u884c\u52d5\u3001\u53cd\u5fa9\u884c\u52d5\u306a\u3069\u3001ASD\u306e\u8a3a\u65ad\u57fa\u6e96\u3092\u6e80\u305f\u3059\u3001\u3042\u308b\u3044\u306f\u305d\u306e\u50be\u5411\u3092\u6301\u3064\u60a3\u8005\u3055\u3093\u304c\u591a\u304f\u898b\u3089\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u884c\u52d5\u306e\u554f\u984c:<\/strong> \u304b\u3093\u3057\u3083\u304f\uff08Tantrums\uff09\u3001\u653b\u6483\u7684\u884c\u52d5\u3001\u591a\u52d5\u3001\u885d\u52d5\u6027\u3001\u6ce8\u610f\u529b\u306e\u6301\u7d9a\u56f0\u96e3\uff08ADHD\u69d8\u75c7\u72b6\uff09\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u611f\u60c5\u306e\u8d77\u4f0f:<\/strong> \u4e0d\u5b89\u3092\u611f\u3058\u3084\u3059\u304b\u3063\u305f\u308a\u3001\u9006\u306b\u975e\u5e38\u306b\u4eba\u61d0\u3063\u3053\u304b\u3063\u305f\u308a\u3059\u308b\u5834\u5408\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u795e\u7d4c\u5b66\u7684\u75c7\u72b6\uff08\u3066\u3093\u304b\u3093\u30fb\u7b4b\u7dca\u5f35\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u7b4b\u7dca\u5f35\u4f4e\u4e0b\uff08Hypotonia\uff09:<\/strong> \u4e73\u5e7c\u5150\u671f\u306b\u4f53\u304c\u67d4\u3089\u304b\u3044\u3001\u62b1\u304d\u306b\u304f\u3044\u3001\u54fa\u4e73\u529b\u304c\u5f31\u3044\u3068\u3044\u3063\u305f\u75c7\u72b6\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u4e00\u822c\u7684\u3067\u3059\u3002\u3053\u308c\u306f\u904b\u52d5\u767a\u9054\u306e\u9045\u308c\u306e\u4e00\u56e0\u3068\u3082\u306a\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u3066\u3093\u304b\u3093\uff08Epilepsy\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u6b20\u5931\u7bc4\u56f2\u306b<strong>GRIN2A\u907a\u4f1d\u5b50<\/strong>\u304c\u542b\u307e\u308c\u308b\u5834\u5408\u3001\u3066\u3093\u304b\u3093\u767a\u4f5c\u306e\u30ea\u30b9\u30af\u304c\u6709\u610f\u306b\u9ad8\u307e\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u767a\u4f5c\u30bf\u30a4\u30d7\u306f\u69d8\u3005\u3067\u3059\u304c\u3001\u7761\u7720\u4e2d\u306b\u8133\u6ce2\u7570\u5e38\u304c\u898b\u3089\u308c\u308b\u30bf\u30a4\u30d7\uff08CSWS\u306a\u3069\uff09\u3084\u3001\u30ed\u30fc\u30e9\u30f3\u30c9\u3066\u3093\u304b\u3093\u306a\u3069\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u307e\u305f\u3001<em>USP7<\/em>\u5358\u72ec\u306e\u6b20\u5931\u3067\u3082\u3066\u3093\u304b\u3093\u767a\u4f5c\uff08\u71b1\u6027\u3051\u3044\u308c\u3093\u3092\u542b\u3080\uff09\u306e\u5831\u544a\u304c\u3042\u308a\u3001\u7d0440\u301c50%\u306e\u60a3\u8005\u3055\u3093\u306b\u4f55\u3089\u304b\u306e\u767a\u4f5c\u304c\u898b\u3089\u308c\u308b\u3068\u3044\u3046\u7814\u7a76\u30c7\u30fc\u30bf\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>MRI\u6240\u898b:<\/strong> \u8133\u306eMRI\u691c\u67fb\u3067\u3001\u8133\u5ba4\u62e1\u5927\u3001\u8133\u6881\u306e\u83f2\u8584\u5316\uff08\u8133\u6881\u304c\u8584\u3044\uff09\u3001\u767d\u8cea\u4f53\u7a4d\u306e\u6e1b\u5c11\u306a\u3069\u306e\u975e\u7279\u7570\u7684\u306a\u6240\u898b\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u69cb\u9020\u7684\u306a\u5927\u5947\u5f62\u306f\u5c11\u306a\u3044\u3067\u3059\u3002<\/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>\u300cHao-Fountain\u75c7\u5019\u7fa4\u300d\u3068\u3057\u3066\u5b9a\u7fa9\u3055\u308c\u308b\u7279\u5fb4\u7684\u306a\u9854\u3064\u304d\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u305f\u3060\u3057\u3001\u3053\u308c\u3089\u306f\u6210\u9577\u3068\u3068\u3082\u306b\u5909\u5316\u3057\u305f\u308a\u3001\u76ee\u7acb\u305f\u306a\u304b\u3063\u305f\u308a\u3059\u308b\u3053\u3068\u3082\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>\u6df1\u3044\u773c\u7aa9\uff08\u76ee\u304c\u5965\u307e\u3063\u3066\u3044\u308b\uff09<\/li>\n\n\n\n<li>\u540a\u308a\u4e0a\u304c\u3063\u305f\u7709\u6bdb<\/li>\n\n\n\n<li>\u9f3b\u6881\u304c\u9ad8\u3044\u3001\u3042\u308b\u3044\u306f\u9f3b\u5148\u304c\u76ee\u7acb\u3064<\/li>\n\n\n\n<li>\u8584\u3044\u4e0a\u5507<\/li>\n\n\n\n<li>\u8033\u306e\u5f62\u3084\u4f4d\u7f6e\u306e\u7570\u5e38<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u5c0f\u982d\u75c7:<\/strong> \u982d\u56f2\u304c\u5e73\u5747\u3088\u308a\u3082\u5c0f\u3055\u3044\u50be\u5411\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>5. \u6d88\u5316\u5668\u7cfb\u30fb\u6442\u98df\u306e\u554f\u984c<\/strong><\/p>\n\n\n\n<p>\u591a\u304f\u306e\u60a3\u8005\u3055\u3093\uff08\u7279\u306b\u4e73\u5e7c\u5150\u671f\uff09\u3067\u6d88\u5316\u5668\u7cfb\u306e\u30c8\u30e9\u30d6\u30eb\u304c\u898b\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u80c3\u98df\u9053\u9006\u6d41\uff08GERD\uff09:<\/strong> \u30df\u30eb\u30af\u3084\u98df\u3079\u7269\u3092\u5410\u304d\u623b\u3057\u3084\u3059\u3044\u3002<\/li>\n\n\n\n<li><strong>\u4fbf\u79d8:<\/strong> \u9811\u56fa\u306a\u4fbf\u79d8\u306b\u60a9\u307e\u3055\u308c\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6442\u98df\u969c\u5bb3:<\/strong> \u565b\u3080\u529b\u3084\u98f2\u307f\u8fbc\u3080\u529b\u304c\u5f31\u304f\u3001\u98df\u4e8b\u5f62\u614b\u306e\u8abf\u6574\u304c\u5fc5\u8981\u306a\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>6. \u305d\u306e\u4ed6\u306e\u5408\u4f75\u75c7<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u6027\u817a\u6a5f\u80fd\u4f4e\u4e0b\u75c7\uff08Hypogonadism\uff09:<\/strong> \u7279\u306b\u7537\u5150\u306b\u304a\u3044\u3066\u3001\u505c\u7559\u7cbe\u5de3\uff08\u30bf\u30de\u304c\u964d\u308a\u3066\u3053\u306a\u3044\uff09\u3084\u5c0f\u9670\u830e\u3001\u9670\u56a2\u4f4e\u5f62\u6210\u306a\u3069\u306e\u6027\u5668\u306e\u767a\u9054\u4e0d\u5168\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u3001USP7\u907a\u4f1d\u5b50\u306e\u6a5f\u80fd\u4e0d\u5168\u3068\u306e\u95a2\u9023\u304c\u793a\u5506\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u773c\u79d1\u7684\u7570\u5e38:<\/strong> \u659c\u8996\u3001\u5c48\u6298\u7570\u5e38\uff08\u8fd1\u8996\u30fb\u9060\u8996\u30fb\u4e71\u8996\uff09\u3001\u76ae\u8cea\u8996\u899a\u969c\u5bb3\uff08CVI\uff09\u306a\u3069\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>\u7761\u7720\u969c\u5bb3:<\/strong> \u5165\u7720\u56f0\u96e3\u3084\u4e2d\u9014\u899a\u9192\u306a\u3069\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u539f\u56e0<\/strong><\/h2>\n\n\n\n<p><strong>16\u756a\u67d3\u8272\u4f53\u77ed\u8155\uff0816p13.2\uff09\u306b\u304a\u3051\u308b\u5fae\u7d30\u6b20\u5931<\/strong>\u304c\u539f\u56e0\u3067\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u4e3b\u8981\u306a\u8cac\u4efb\u907a\u4f1d\u5b50\uff1aUSP7<\/strong><\/p>\n\n\n\n<p>\u8fd1\u5e74\u306e\u7814\u7a76\u3067\u300116p13.2\u6b20\u5931\u75c7\u5019\u7fa4\u306e\u75c7\u72b6\u306e\u5927\u90e8\u5206\u306f\u3001\u3053\u306e\u9818\u57df\u306b\u3042\u308b<strong>USP7\u907a\u4f1d\u5b50<\/strong>\u306e\u30cf\u30d7\u30ed\u4e0d\u5168\uff08\u7247\u65b9\u306e\u907a\u4f1d\u5b50\u304c\u306a\u304f\u306a\u308b\u3053\u3068\u3067\u3001\u5fc5\u8981\u306a\u30bf\u30f3\u30d1\u30af\u8cea\u91cf\u304c\u534a\u5206\u306b\u306a\u308a\u6a5f\u80fd\u3057\u306a\u304f\u306a\u308b\u3053\u3068\uff09\u306b\u3088\u3063\u3066\u8aac\u660e\u3067\u304d\u308b\u3053\u3068\u304c\u5206\u304b\u3063\u3066\u304d\u307e\u3057\u305f\u3002<\/p>\n\n\n\n<p>\u3010USP7\u306e\u5f79\u5272\u3068\u306f\uff1f\u3011<\/p>\n\n\n\n<p>USP7\uff08HAUSP\u3068\u3082\u547c\u3070\u308c\u308b\uff09\u306f\u3001\u300c\u8131\u30e6\u30d3\u30ad\u30c1\u30f3\u5316\u9175\u7d20\u300d\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u7d30\u80de\u5185\u3067\u306f\u4e0d\u8981\u306b\u306a\u3063\u305f\u30bf\u30f3\u30d1\u30af\u8cea\u306b\u300c\u30e6\u30d3\u30ad\u30c1\u30f3\u300d\u3068\u3044\u3046\u76ee\u5370\u3092\u3064\u3051\u3066\u5206\u89e3\u51e6\u7406\u3092\u884c\u3044\u307e\u3059\u304c\u3001USP7\u306f\u3053\u306e\u76ee\u5370\u3092\u53d6\u308a\u9664\u304f\u3053\u3068\u3067\u3001\u300c\u91cd\u8981\u306a\u30bf\u30f3\u30d1\u30af\u8cea\u304c\u5206\u89e3\u3055\u308c\u306a\u3044\u3088\u3046\u306b\u5b88\u308b\u300d\u5f79\u5272\u3092\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u7279\u306b\u3001\u4ee5\u4e0b\u306e\u30bf\u30f3\u30d1\u30af\u8cea\u306e\u5236\u5fa1\u306b\u95a2\u308f\u3063\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>p53:<\/strong> \u7d30\u80de\u306e\u30ac\u30f3\u5316\u3092\u9632\u3050\u91cd\u8981\u306a\u30bf\u30f3\u30d1\u30af\u8cea\u3002<\/li>\n\n\n\n<li><strong>WASH\u8907\u5408\u4f53:<\/strong> \u30a8\u30f3\u30c9\u30bd\u30fc\u30e0\uff08\u7d30\u80de\u5185\u306e\u7269\u8cea\u8f38\u9001\uff09\u306e\u6a5f\u80fd\u3092\u8abf\u7bc0\u3057\u3001\u795e\u7d4c\u7d30\u80de\u306e\u53d7\u5bb9\u4f53\u30ea\u30b5\u30a4\u30af\u30eb\u306b\u95a2\u308f\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>MAGEL2:<\/strong> \u30d7\u30e9\u30c0\u30fc\u30fb\u30a6\u30a3\u30ea\u75c7\u5019\u7fa4\u306b\u95a2\u9023\u3059\u308b\u30bf\u30f3\u30d1\u30af\u8cea\u3002<\/li>\n<\/ul>\n\n\n\n<p>USP7\u304c\u4e0d\u8db3\u3059\u308b\u3068\u3001\u3053\u308c\u3089\u306e\u30bf\u30f3\u30d1\u30af\u8cea\u304c\u9069\u5207\u306b\u30ea\u30b5\u30a4\u30af\u30eb\u3055\u308c\u305a\u3001\u795e\u7d4c\u7d30\u80de\u306e\u767a\u9054\u3084\u6a5f\u80fd\u7dad\u6301\u3001\u6027\u30db\u30eb\u30e2\u30f3\u306e\u5236\u5fa1\u30b7\u30b9\u30c6\u30e0\u306b\u7570\u5e38\u304c\u751f\u3058\u3001\u75c7\u72b6\u304c\u73fe\u308c\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>2. \u907a\u4f1d\u5f62\u5f0f<\/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> 16p13.2\u6b20\u5931\u75c7\u5019\u7fa4\u306e\u5927\u90e8\u5206\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\u306e\u5f62\u6210\u6642\u3001\u3042\u308b\u3044\u306f\u53d7\u7cbe\u76f4\u5f8c\uff09\u3067\u5076\u7136\u751f\u3058\u305f\u7a81\u7136\u5909\u7570\u3067\u3059\u3002\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\n\n\n<p><strong>\u5bb6\u65cf\u6027\uff08\u907a\u4f1d\uff09:<\/strong> \u7a00\u306b\u3001\u89aa\u304c\u75c7\u72b6\u3092\u6301\u305f\u306a\u3044\uff08\u3042\u308b\u3044\u306f\u8efd\u5fae\u306a\uff09\u4fdd\u56e0\u8005\u3067\u3042\u3063\u305f\u308a\u3001\u89aa\u306e\u751f\u6b96\u7d30\u80de\u306e\u4e00\u90e8\u306b\u306e\u307f\u5909\u7570\u304c\u3042\u308b\uff08\u6027\u817a\u30e2\u30b6\u30a4\u30af\uff09\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u6cbb\u7642\u65b9\u6cd5<\/strong><\/h2>\n\n\n\n<p>\u73fe\u6642\u70b9\u3067\u3001\u6b20\u5931\u3057\u305f\u67d3\u8272\u4f53\u3084\u907a\u4f1d\u5b50\u3092\u4fee\u5fa9\u3059\u308b\u6839\u672c\u7684\u306a\u6cbb\u7642\u6cd5\u306f\u78ba\u7acb\u3055\u308c\u3066\u3044\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u6cbb\u7642\u306f\u3001\u60a3\u8005\u3055\u3093\u4e00\u4eba\u3072\u3068\u308a\u306e\u75c7\u72b6\u306b\u5408\u308f\u305b\u305f\u5bfe\u75c7\u7642\u6cd5\u3068\u3001\u767a\u9054\u3092\u4fc3\u3059\u305f\u3081\u306e\u7642\u80b2\u7684\u652f\u63f4\u304c\u4e2d\u5fc3\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u300cHao-Fountain\u75c7\u5019\u7fa4\u300d\u3068\u3057\u3066\u306e\u8a3a\u65ad\u304c\u3064\u3044\u305f\u5834\u5408\u3001\u4ee5\u4e0b\u306e\u3088\u3046\u306a\u7ba1\u7406\u304c\u63a8\u5968\u3055\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u767a\u9054\u30fb\u6559\u80b2\u7684\u652f\u63f4\uff08\u65e9\u671f\u4ecb\u5165\uff09<\/strong><\/p>\n\n\n\n<p>\u8a3a\u65ad\u5f8c\u3001\u3067\u304d\u308b\u3060\u3051\u65e9\u671f\u304b\u3089\u7642\u80b2\u3092\u958b\u59cb\u3059\u308b\u3053\u3068\u304c\u3001\u4e88\u5f8c\u3092\u6539\u5584\u3059\u308b\u305f\u3081\u306b\u91cd\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u8a00\u8a9e\u8074\u899a\u7642\u6cd5\uff08ST\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u6700\u3082\u91cd\u8981\u306a\u652f\u63f4\u306e\u4e00\u3064\u3067\u3059\u3002\u767a\u8a9e\u5931\u884c\u3084\u8868\u51fa\u8a00\u8a9e\u306e\u9045\u308c\u306b\u5bfe\u3057\u3001\u53e3\u8154\u4f53\u64cd\u3084\u767a\u58f0\u7df4\u7fd2\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u8a00\u8449\u304c\u51fa\u306b\u304f\u3044\u5834\u5408\u3001\u30b5\u30a4\u30f3\u8a00\u8a9e\u3001\u7d75\u30ab\u30fc\u30c9\uff08PECS\uff09\u3001\u30bf\u30d6\u30ec\u30c3\u30c8\u7aef\u672b\uff08AAC\uff09\u306a\u3069\u306e\u4ee3\u66ff\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u624b\u6bb5\u3092\u5c0e\u5165\u3057\u3001\u610f\u601d\u4f1d\u9054\u304c\u3067\u304d\u308b\u74b0\u5883\u3092\u6574\u3048\u308b\u3053\u3068\u3067\u3001\u304b\u3093\u3057\u3083\u304f\u7b49\u306e\u884c\u52d5\u554f\u984c\u304c\u6e1b\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u7406\u5b66\u7642\u6cd5\uff08PT\uff09:<\/strong> \u7b4b\u7dca\u5f35\u4f4e\u4e0b\u3084\u904b\u52d5\u767a\u9054\u306e\u9045\u308c\u306b\u5bfe\u3057\u3001\u4f53\u5e79\u6a5f\u80fd\u306e\u5f37\u5316\u3084\u6b69\u884c\u8a13\u7df4\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u4f5c\u696d\u7642\u6cd5\uff08OT\uff09:<\/strong> \u624b\u5148\u306e\u5fae\u7d30\u904b\u52d5\u306e\u8a13\u7df4\u3084\u3001\u611f\u899a\u7d71\u5408\u7642\u6cd5\u3092\u901a\u3058\u3066\u3001\u65e5\u5e38\u751f\u6d3b\u52d5\u4f5c\u306e\u81ea\u7acb\u3092\u76ee\u6307\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u795e\u7d4c\u5b66\u7684\u7ba1\u7406\uff08\u3066\u3093\u304b\u3093\u5bfe\u7b56\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u8133\u6ce2\u691c\u67fb:<\/strong> \u8a3a\u65ad\u6642\u304a\u3088\u3073\u767a\u4f5c\u3092\u7591\u3046\u75c7\u72b6\uff08\u30dc\u30fc\u30c3\u3068\u3059\u308b\u3001\u6025\u306b\u529b\u304c\u629c\u3051\u308b\u306a\u3069\uff09\u304c\u3042\u3063\u305f\u5834\u5408\u306b\u5b9f\u65bd\u3057\u307e\u3059\u3002\u7279\u306b<em>GRIN2A<\/em>\u6b20\u5931\u3092\u542b\u3080\u5834\u5408\u306f\u6ce8\u610f\u6df1\u3044\u30e2\u30cb\u30bf\u30ea\u30f3\u30b0\u304c\u5fc5\u8981\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u85ac\u7269\u7642\u6cd5:<\/strong> \u3066\u3093\u304b\u3093\u3068\u8a3a\u65ad\u3055\u308c\u305f\u5834\u5408\u3001\u767a\u4f5c\u578b\u306b\u5fdc\u3058\u305f\u6297\u3066\u3093\u304b\u3093\u85ac\u306b\u3088\u308b\u6cbb\u7642\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u6d88\u5316\u5668\u30fb\u6804\u990a\u7ba1\u7406<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u80c3\u98df\u9053\u9006\u6d41:<\/strong> \u85ac\u7269\u7642\u6cd5\u3084\u3001\u30df\u30eb\u30af\u306e\u3068\u308d\u307f\u4ed8\u3051\u3001\u6388\u4e73\u5f8c\u306e\u59ff\u52e2\u4fdd\u6301\u306a\u3069\u3067\u5bfe\u5fdc\u3057\u307e\u3059\u3002\u91cd\u75c7\u306e\u5834\u5408\u306f\u5916\u79d1\u7684\u6cbb\u7642\u3092\u691c\u8a0e\u3059\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u4fbf\u79d8:<\/strong> \u7de9\u4e0b\u5264\u3084\u98df\u4e8b\u7642\u6cd5\u3067\u30b3\u30f3\u30c8\u30ed\u30fc\u30eb\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6442\u98df\u6307\u5c0e:<\/strong> \u56a5\u4e0b\u6a5f\u80fd\u306b\u5408\u308f\u305b\u305f\u98df\u4e8b\u5f62\u614b\u306e\u8abf\u6574\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>4. \u5185\u5206\u6ccc\u30fb\u6ccc\u5c3f\u5668\u79d1\u7684\u7ba1\u7406<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u6027\u817a\u8a55\u4fa1:<\/strong> \u7279\u306b\u7537\u5150\u3067\u505c\u7559\u7cbe\u5de3\u304c\u3042\u308b\u5834\u5408\u3001\u624b\u8853\u6642\u671f\u3092\u691c\u8a0e\u3057\u307e\u3059\u3002\u307e\u305f\u3001\u601d\u6625\u671f\u306e\u767a\u6765\u3084\u30db\u30eb\u30e2\u30f3\u30d0\u30e9\u30f3\u30b9\u306b\u3064\u3044\u3066\u3001\u5185\u5206\u6ccc\u79d1\u533b\u306b\u3088\u308b\u30d5\u30a9\u30ed\u30fc\u304c\u5fc5\u8981\u306a\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>5. \u884c\u52d5\u30fb\u5fc3\u7406\u9762\u306e\u30b5\u30dd\u30fc\u30c8<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u74b0\u5883\u8abf\u6574:<\/strong> ASD\u3084ADHD\u306e\u7279\u6027\u304c\u3042\u308b\u5834\u5408\u3001\u523a\u6fc0\u306e\u5c11\u306a\u3044\u74b0\u5883\u3092\u4f5c\u3063\u305f\u308a\u3001\u898b\u901a\u3057\u306e\u6301\u3061\u3084\u3059\u3044\u30b9\u30b1\u30b8\u30e5\u30fc\u30eb\u63d0\u793a\u3092\u884c\u3063\u305f\u308a\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u85ac\u7269\u7642\u6cd5:<\/strong> \u885d\u52d5\u6027\u3084\u7761\u7720\u969c\u5bb3\u3001\u4e0d\u5b89\u304c\u5f37\u304f\u751f\u6d3b\u306b\u652f\u969c\u304c\u51fa\u308b\u5834\u5408\u3001\u533b\u5e2b\u306e\u5224\u65ad\u306e\u3082\u3068\u3067\u85ac\u7269\u7642\u6cd5\u3092\u691c\u8a0e\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>6. \u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u5bb6\u65cf\u8a08\u753b\uff08\u6b21\u5b50\u306e\u598a\u5a20\u306a\u3069\uff09\u306b\u304a\u3051\u308b\u518d\u767a\u30ea\u30b9\u30af\u3084\u3001\u5c06\u6765\u306e\u4e88\u6e2c\u3001\u304d\u3087\u3046\u3060\u3044\u3078\u306e\u5f71\u97ff\u306a\u3069\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\u5834\u3092\u6301\u3064\u3053\u3068\u304c\u5927\u5207\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u89aa\u304c\u300c\u81ea\u5206\u306e\u305b\u3044\u3067\u300d\u3068\u8cac\u3081\u306a\u3044\u3088\u3046\u3001\u75be\u60a3\u306e\u30e1\u30ab\u30cb\u30ba\u30e0\uff08\u591a\u304f\u306f\u5076\u7136\u306e\u5909\u7570\u3067\u3042\u308b\u3053\u3068\uff09\u3092\u6b63\u3057\u304f\u7406\u89e3\u3059\u308b\u30b5\u30dd\u30fc\u30c8\u304c\u884c\u308f\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>16p13.2 deletion syndrome\uff08Hao-Fountain\u75c7\u5019\u7fa4\uff09\u306f\u300116\u756a\u67d3\u8272\u4f53\u4e0a\u306eUSP7\u306a\u3069\u306e\u907a\u4f1d\u5b50\u304c\u6b20\u3051\u308b\u3053\u3068\u3067\u751f\u3058\u308b\u5e0c\u5c11\u306a\u75be\u60a3\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u8a00\u8449\u306e\u767a\u9054\u306e\u9045\u308c\u3084\u3001\u7b4b\u7dca\u5f35\u306e\u5f31\u3055\u3001\u6d88\u5316\u5668\u75c7\u72b6\u306a\u3069\u304c\u7279\u5fb4\u3067\u3059\u304c\u3001\u304a\u5b50\u3055\u3093\u306f\u305d\u308c\u305e\u308c\u8c4a\u304b\u306a\u500b\u6027\u3092\u6301\u3063\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u8a00\u8449\u3067\u4f1d\u3048\u308b\u3053\u3068\u304c\u82e6\u624b\u3067\u3082\u3001\u7406\u89e3\u3059\u308b\u529b\u306f\u80b2\u3063\u3066\u3044\u308b\u3053\u3068\u304c\u591a\u3044\u305f\u3081\u3001\u7d75\u30ab\u30fc\u30c9\u3084\u30b8\u30a7\u30b9\u30c1\u30e3\u30fc\u306a\u3069\u3001\u305d\u306e\u5b50\u306b\u5408\u3063\u305f\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u65b9\u6cd5\u3092\u898b\u3064\u3051\u308b\u3053\u3068\u304c\u6210\u9577\u306e\u9375\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3066\u3093\u304b\u3093\u3084\u6d88\u5316\u5668\u75c7\u72b6\u306a\u3069\u306e\u8eab\u4f53\u7684\u306a\u30b1\u30a2\u3068\u3001\u65e9\u671f\u304b\u3089\u306e\u7642\u80b2\u652f\u63f4\u3092\u7d44\u307f\u5408\u308f\u305b\u308b\u3053\u3068\u3067\u3001\u305d\u306e\u5b50\u3089\u3057\u3044\u767a\u9054\u3092\u652f\u3048\u3066\u3044\u304f\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>Hao YH, et al.<\/strong> (2015). USP7 acts as a molecular rheostat to promote WASH-dependent endosomal protein recycling and is mutated in a human neurodevelopmental disorder. <em>Molecular Cell<\/em>, 59(6), 956-969.\n<ul class=\"wp-block-list\">\n<li>(\u203bUSP7\u907a\u4f1d\u5b50\u306e\u5909\u7570\u304c\u795e\u7d4c\u767a\u9054\u969c\u5bb3\u306e\u539f\u56e0\u3067\u3042\u308b\u3053\u3068\u3092\u521d\u3081\u3066\u660e\u78ba\u306b\u3057\u3001\u75be\u60a3\u30e1\u30ab\u30cb\u30ba\u30e0\u3092\u89e3\u660e\u3057\u305f\u8a18\u5ff5\u7891\u7684\u306a\u8ad6\u6587\u3067\u3059\u3002\u300cHao-Fountain\u75c7\u5019\u7fa4\u300d\u306e\u540d\u524d\u306e\u7531\u6765\u3068\u306a\u3063\u305f\u7814\u7a76\u306e\u4e00\u3064\u3067\u3059\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Fountain MD, et al.<\/strong> (2019). Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies. <em>Genetics in Medicine<\/em>, 21(8), 1797-1807.\n<ul class=\"wp-block-list\">\n<li>(\u203b\u591a\u6570\u306e\u60a3\u8005\u30c7\u30fc\u30bf\u3092\u89e3\u6790\u3057\u3001USP7\u95a2\u9023\u75be\u60a3\uff08Hao-Fountain\u75c7\u5019\u7fa4\uff09\u306e\u81e8\u5e8a\u7684\u7279\u5fb4\u3001\u9854\u8c8c\u3001MRI\u6240\u898b\u306a\u3069\u3092\u8a73\u7d30\u306b\u5b9a\u7fa9\u3057\u305f\u91cd\u8981\u8ad6\u6587\u3067\u3059\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Simons Searchlight<\/strong>: USP7-related neurodevelopmental disorder.\n<ul class=\"wp-block-list\">\n<li>(\u60a3\u8005\u5bb6\u65cf\u5411\u3051\u306b\u3001\u75c7\u72b6\u3084\u751f\u6d3b\u306e\u8cea\u306b\u95a2\u3059\u308b\u60c5\u5831\u3092\u5206\u304b\u308a\u3084\u3059\u304f\u63d0\u4f9b\u3057\u3066\u3044\u308b\u56fd\u969b\u7684\u306a\u30ec\u30b8\u30b9\u30c8\u30ea\u30fb\u652f\u63f4\u56e3\u4f53\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Myers, et al.<\/strong> (2019). De novo mutations in GRIN2A in patients with epilepsy, intellectual disability, schizophrenia, and autism.\n<ul class=\"wp-block-list\">\n<li>(16p13.2\u9818\u57df\u306b\u542b\u307e\u308c\u308bGRIN2A\u907a\u4f1d\u5b50\u3068\u3066\u3093\u304b\u3093\u30fb\u8a00\u8a9e\u969c\u5bb3\u306e\u95a2\u9023\u306b\u3064\u3044\u3066\u306e\u6587\u732e\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Unique (Rare Chromosome Disorder Support Group)<\/strong>: 16p13 deletions (2023).\n<ul class=\"wp-block-list\">\n<li>(\u67d3\u8272\u4f53\u6b20\u5931\u306b\u95a2\u3059\u308b\u5305\u62ec\u7684\u306a\u30ac\u30a4\u30c9\u30e9\u30a4\u30f3\u3002p13.2\u9818\u57df\u306e\u60c5\u5831\u3082\u542b\u307e\u308c\u307e\u3059\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>ClinGen Dosage Sensitivity Curation<\/strong>: <em>USP7<\/em> (Haploinsufficiency score: 3 &#8211; Sufficient evidence), <em>GRIN2A<\/em>.\n<ul class=\"wp-block-list\">\n<li>(\u5404\u907a\u4f1d\u5b50\u306e\u6b20\u5931\u304c\u75be\u60a3\u539f\u56e0\u3068\u306a\u308b\u3053\u3068\u306e\u8a3c\u62e0\u30ec\u30d9\u30eb\u3092\u8a55\u4fa1\u3057\u305f\u5c02\u9580\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-16702","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\/16702","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\/16702\/revisions"}],"predecessor-version":[{"id":16705,"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/16702\/revisions\/16705"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/media?parent=16702"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}