{"id":17258,"date":"2026-01-22T01:02:31","date_gmt":"2026-01-22T01:02:31","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/gene\/?post_type=genetic-screening&#038;p=17258"},"modified":"2026-01-22T01:02:31","modified_gmt":"2026-01-22T01:02:31","slug":"coffin-siris-syndrome-1-css1","status":"publish","type":"genetic-screening","link":"https:\/\/www.hiro-clinic.or.jp\/gene\/genetic-screening\/coffin-siris-syndrome-1-css1\/","title":{"rendered":"Coffin-Siris syndrome 1 (CSS1)"},"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>\u30b3\u30d5\u30a3\u30f3\u30fb\u30b7\u30ea\u30b9\u75c7\u5019\u7fa4\uff08Coffin-Siris syndrome; CSS\uff09\n<ul class=\"wp-block-list\">\n<li>\u203b\u81e8\u5e8a\u7684\u306b\u306f1\u578b\u301c12\u578b\u306a\u3069\u306e\u30b5\u30d6\u30bf\u30a4\u30d7\u3092\u533a\u5225\u305b\u305a\u3001\u7dcf\u79f0\u3068\u3057\u3066\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>\u7b2c\u4e94\u6307\u75c7\u5019\u7fa4\uff08Fifth digit syndrome\uff09\n<ul class=\"wp-block-list\">\n<li>\u203b\u672c\u75be\u60a3\u306e\u6700\u5927\u306e\u7279\u5fb4\u3067\u3042\u308b\u300c\u5c0f\u6307\uff08\u7b2c\u4e94\u6307\uff09\u306e\u4f4e\u5f62\u6210\u300d\u306b\u7531\u6765\u3059\u308b\u3001\u6b74\u53f2\u7684\u306a\u5225\u540d\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li>ARID1B\u95a2\u9023\u969c\u5bb3\uff08ARID1B-related disorder\uff09\n<ul class=\"wp-block-list\">\n<li>\u203bCSS1\u306e\u539f\u56e0\u907a\u4f1d\u5b50\u3067\u3042\u308b<em>ARID1B<\/em>\u306e\u5909\u7570\u306b\u3088\u308b\u75be\u60a3\u7fa4\u3092\u6307\u3059\u540d\u79f0\u3067\u3059\u3002CSS\u306e\u5178\u578b\u7684\u306a\u7279\u5fb4\u3092\u6301\u305f\u306a\u3044\u77e5\u7684\u969c\u5bb3\u306e\u307f\u306e\u30b1\u30fc\u30b9\u3082\u542b\u3081\u3066\u3053\u3046\u547c\u3070\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li>\u95a2\u9023\uff1a\u30cb\u30b3\u30e9\u30a4\u30c7\u30b9\u30fb\u30d0\u30e9\u30a4\u30c4\u30a1\u30fc\u75c7\u5019\u7fa4\uff08Nicolaides-Baraitser syndrome\uff09\n<ul class=\"wp-block-list\">\n<li>\u203bCSS\u3068\u75c7\u72b6\u304c\u4f3c\u3066\u304a\u308a\u3001\u540c\u3058\u907a\u4f1d\u5b50\u8907\u5408\u4f53\uff08SWI\/SNF\u8907\u5408\u4f53\uff09\u306e\u7570\u5e38\u306b\u3088\u3063\u3066\u8d77\u3053\u308b\u985e\u7e01\u75be\u60a3\u3067\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>6\u756a\u67d3\u8272\u4f53 \u9577\u8155\uff08q\uff0925.3\u9818\u57df<\/strong><\/p>\n\n\n\n<p>\u672c\u75be\u60a3\u306f\u3001\u30d2\u30c8\u306e6\u756a\u67d3\u8272\u4f53\u306e\u9577\u8155\uff08q\u30a2\u30fc\u30e0\uff09\u306e\u672b\u7aef\u306b\u8fd1\u3044\u300c25.3\u300d\u3068\u547c\u3070\u308c\u308b\u30d0\u30f3\u30c9\u9818\u57df\u306b\u4f4d\u7f6e\u3059\u308b\u3001<strong>ARID1B\u907a\u4f1d\u5b50<\/strong>\u306e\u5909\u7570\u307e\u305f\u306f\u6b20\u5931\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3010\u30b2\u30ce\u30e0\u4e0a\u306e\u8a73\u7d30\u3068SWI\/SNF\u8907\u5408\u4f53\u3011<\/p>\n\n\n\n<p>\u30b3\u30d5\u30a3\u30f3\u30fb\u30b7\u30ea\u30b9\u75c7\u5019\u7fa4\uff08CSS\uff09\u306f\u3001\u5358\u4e00\u306e\u907a\u4f1d\u5b50\u75be\u60a3\u3067\u306f\u306a\u304f\u3001\u300cSWI\/SNF\uff08\u30b9\u30a6\u30a3\u30fb\u30b9\u30cb\u30d5\uff09\u8907\u5408\u4f53\u300d\u3068\u3044\u3046\u30b0\u30eb\u30fc\u30d7\u306b\u95a2\u308f\u308b\u907a\u4f1d\u5b50\u306e\u3044\u305a\u308c\u304b\u306b\u7570\u5e38\u304c\u8d77\u304d\u308b\u3053\u3068\u3067\u767a\u75c7\u3059\u308b\u75be\u60a3\u7fa4\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u73fe\u5728\u307e\u3067\u306b10\u7a2e\u985e\u4ee5\u4e0a\u306e\u539f\u56e0\u907a\u4f1d\u5b50\u304c\u7279\u5b9a\u3055\u308c\u3066\u3044\u307e\u3059\u304c\u3001\u305d\u306e\u4e2d\u3067\u6700\u3082\u983b\u5ea6\u304c\u9ad8\u304f\u3001\u4ee3\u8868\u7684\u306a\u30bf\u30a4\u30d7\u304c\u3001\u3053\u306eARID1B\u907a\u4f1d\u5b50\u306e\u7570\u5e38\u306b\u3088\u308b\u300cCSS1\u300d\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>ARID1B (AT-Rich Interaction Domain 1B):<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>\u5f79\u5272:<\/strong> \u7d30\u80de\u6838\u306e\u4e2d\u3067\u3001DNA\u304c\u5dfb\u304d\u4ed8\u3044\u3066\u3044\u308b\u300c\u30af\u30ed\u30de\u30c1\u30f3\u300d\u3068\u3044\u3046\u69cb\u9020\u306e\u5f62\u3092\u5909\u3048\u308b\uff08\u30ea\u30e2\u30c7\u30ea\u30f3\u30b0\u3059\u308b\uff09\u50cd\u304d\u3092\u62c5\u3063\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u30a4\u30e1\u30fc\u30b8:<\/strong> \u4eba\u9593\u306e\u4f53\u306b\u306f\u81a8\u5927\u306a\u6570\u306e\u907a\u4f1d\u5b50\uff08\u672c\uff09\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u666e\u6bb5\u306f\u304d\u3064\u304f\u68b1\u5305\u3055\u308c\u3066\u3044\u3066\u8aad\u3081\u306a\u3044\u72b6\u614b\u306b\u306a\u3063\u3066\u3044\u307e\u3059\u3002<em>ARID1B<\/em>\u3092\u542b\u3080SWI\/SNF\u8907\u5408\u4f53\u306f\u3001\u5fc5\u8981\u306a\u6642\u306b\u5fc5\u8981\u306a\u30da\u30fc\u30b8\u3092\u958b\u3044\u3066\u300c\u672c\u3092\u8aad\u3081\u308b\u72b6\u614b\u306b\u3059\u308b\uff08\u907a\u4f1d\u5b50\u306e\u30b9\u30a4\u30c3\u30c1\u3092\u5165\u308c\u308b\uff09\u300d\u56f3\u66f8\u9928\u53f8\u66f8\u306e\u3088\u3046\u306a\u5f79\u5272\u3092\u3057\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>CSS1:<\/strong> \u3053\u306e\u53f8\u66f8\u3055\u3093\u304c\u4e0d\u5728\uff08\u30cf\u30d7\u30ed\u4e0d\u5168\uff09\u306b\u306a\u308b\u3053\u3068\u3067\u3001\u8133\u306e\u767a\u9054\u3084\u9aa8\u306e\u5f62\u6210\u306b\u5fc5\u8981\u306a\u907a\u4f1d\u5b50\u306e\u30b9\u30a4\u30c3\u30c1\u304c\u6b63\u3057\u3044\u30bf\u30a4\u30df\u30f3\u30b0\u3067\u5165\u3089\u306a\u304f\u306a\u308a\u3001\u5168\u8eab\u306b\u75c7\u72b6\u304c\u73fe\u308c\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\u3060\u304c\u3001\u77e5\u7684\u969c\u5bb3\u306e\u539f\u56e0\u3068\u3057\u3066\u306f\u6bd4\u8f03\u7684\u591a\u3044<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5168\u4f53\u983b\u5ea6:<\/strong> \u6b63\u78ba\u306a\u6709\u75c5\u7387\u306f\u4e0d\u660e\u3067\u3059\u304c\u3001\u51fa\u751f10,000\u4eba\u301c100,000\u4eba\u306b1\u4eba\u7a0b\u5ea6\u3068\u63a8\u5b9a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u77e5\u7684\u969c\u5bb3\u306b\u304a\u3051\u308b\u983b\u5ea6:<\/strong> \u3053\u3053\u304c\u91cd\u8981\u306a\u30dd\u30a4\u30f3\u30c8\u3067\u3059\u3002CSS\u3068\u3057\u3066\u306e\u8a3a\u65ad\u540d\u304c\u3064\u304b\u306a\u3044\u300c\u539f\u56e0\u4e0d\u660e\u306e\u77e5\u7684\u969c\u5bb3\u300d\u306e\u60a3\u8005\u3055\u3093\u3092\u7db2\u7f85\u7684\u306b\u8abf\u3079\u308b\u3068\u3001\u7d041%\u306b\u3053\u306e<em>ARID1B<\/em>\u907a\u4f1d\u5b50\u306e\u5909\u7570\u304c\u898b\u3064\u304b\u308b\u3068\u3044\u3046\u5831\u544a\u304c\u3042\u308a\u307e\u3059\u3002\u3053\u308c\u306f\u30c0\u30a6\u30f3\u75c7\u306a\u3069\u306e\u67d3\u8272\u4f53\u7570\u5e38\u3092\u9664\u3051\u3070\u3001<strong>\u5358\u4e00\u907a\u4f1d\u5b50\u75be\u60a3\u3068\u3057\u3066\u306f\u975e\u5e38\u306b\u9ad8\u3044\u983b\u5ea6<\/strong>\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u6027\u5225\u306b\u3088\u308b\u767a\u751f\u983b\u5ea6\u306e\u5dee\u306f\u306a\u304f\u3001\u7537\u5150\u306b\u3082\u5973\u5150\u306b\u3082\u767a\u751f\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\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>Coffin-Siris syndrome 1 (CSS1) \u306e\u75c7\u72b6\u306f\u3001**\u300c\u5c0f\u6307\u306e\u4f4e\u5f62\u6210\u300d\u300c\u7279\u5fb4\u7684\u306a\u9854\u8c8c\u300d\u300c\u591a\u6bdb\u300d\u300c\u767a\u9054\u9045\u6ede\u300d**\u304c4\u5927\u7279\u5fb4\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u305f\u3060\u3057\u3001ARID1B\u5909\u7570\uff08CSS1\uff09\u306f\u3001\u4ed6\u306e\u539f\u56e0\u907a\u4f1d\u5b50\u306b\u3088\u308bCSS\uff08\u4f8b\u3048\u3070SMARCB1\u306a\u3069\uff09\u306b\u6bd4\u3079\u3066\u3001\u8eab\u4f53\u7684\u306a\u5947\u5f62\u304c\u8efd\u5ea6\u3067\u3042\u308a\u3001\u91cd\u5ea6\u306e\u8eab\u4f53\u969c\u5bb3\u3092\u4f34\u308f\u306a\u3044\u30b1\u30fc\u30b9\u3082\u591a\u3044\u3053\u3068\u304c\u5206\u304b\u3063\u3066\u304d\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u9aa8\u683c\u30fb\u56db\u80a2\u306e\u7279\u5fb4\uff08Skeletal features\uff09<\/strong><\/p>\n\n\n\n<p>\u8a3a\u65ad\u306e\u6700\u5927\u306e\u6c7a\u3081\u624b\u3068\u306a\u308b\u7279\u5fb4\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u7b2c\u4e94\u6307\uff08\u5c0f\u6307\uff09\u306e\u4f4e\u5f62\u6210:<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>\u722a\u306e\u4f4e\u5f62\u6210\u30fb\u7121\u5f62\u6210:<\/strong> \u624b\u3084\u8db3\u306e\u5c0f\u6307\u306e\u722a\u304c\u3001\u751f\u307e\u308c\u3064\u304d\u7121\u304b\u3063\u305f\u308a\u3001\u975e\u5e38\u306b\u5c0f\u3055\u304b\u3063\u305f\u308a\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u672b\u7bc0\u9aa8\u306e\u4f4e\u5f62\u6210:<\/strong> \u30ec\u30f3\u30c8\u30b2\u30f3\u3092\u64ae\u308b\u3068\u3001\u5c0f\u6307\u306e\u4e00\u756a\u5148\u306e\u9aa8\uff08\u672b\u7bc0\u9aa8\uff09\u304c\u5c0f\u3055\u304f\u306a\u3063\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u3053\u306e\u7279\u5fb4\u306fCSS\u306e\u307b\u307c\u5168\u4f8b\u306b\u898b\u3089\u308c\u307e\u3059\u304c\u3001CSS1\uff08<em>ARID1B<\/em>\uff09\u3067\u306f\u6bd4\u8f03\u7684\u30de\u30a4\u30eb\u30c9\u3067\u3001\u722a\u306f\u3042\u3063\u3066\u3082\u5c0f\u3055\u3044\u3060\u3051\u3001\u3068\u3044\u3046\u5834\u5408\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u7279\u5fb4\u7684\u306a\u9854\u8c8c\uff08Craniofacial features\uff09<\/strong><\/p>\n\n\n\n<p>\u300cCoarse\uff08\u30b3\u30fc\u30b9\uff09\u300d\u3068\u8868\u73fe\u3055\u308c\u308b\u3001\u5f6b\u308a\u306e\u6df1\u3044\u9854\u7acb\u3061\u304c\u7279\u5fb4\u3067\u3059\u3002\u6210\u9577\u3068\u3068\u3082\u306b\u7279\u5fb4\u304c\u306f\u3063\u304d\u308a\u3057\u3066\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u7709\u30fb\u76ee:<\/strong> \u6fc3\u304f\u3066\u592a\u3044\u7709\u6bdb\u3001\u9577\u3044\u307e\u3064\u6bdb\u3002<\/li>\n\n\n\n<li><strong>\u9f3b:<\/strong> \u9f3b\u6839\u90e8\u304c\u4f4e\u304f\u3001\u9f3b\u5148\u304c\u5e45\u5e83\u3067\u4e38\u3044\u3002<\/li>\n\n\n\n<li><strong>\u53e3:<\/strong> \u53e3\u304c\u5927\u304d\u3044\uff08\u5927\u53e3\u75c7\uff09\u3001\u5507\u304c\u539a\u3044\uff08\u7279\u306b\u4e0b\u5507\uff09\u3002<\/li>\n\n\n\n<li><strong>\u305d\u306e\u4ed6:<\/strong> \u53e3\u84cb\u88c2\u3084\u53e3\u84cb\u5782\u88c2\uff08\u306e\u3069\u3061\u3093\u3053\u304c\u5272\u308c\u3066\u3044\u308b\uff09\u3092\u5408\u4f75\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u76ae\u819a\u30fb\u6bdb\u9aea\u306e\u7279\u5fb4<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u591a\u6bdb\u75c7\uff08Hypertrichosis\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u80cc\u4e2d\u3001\u8155\u3001\u9854\uff08\u984d\u3084\u3053\u3081\u304b\u307f\uff09\u306a\u3069\u306e\u7523\u6bdb\u304c\u6fc3\u3044\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u982d\u9aea:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u751f\u307e\u308c\u305f\u6642\u306f\u9aea\u306e\u6bdb\u304c\u8584\u3044\uff08\u7279\u306b\u524d\u982d\u90e8\u301c\u5074\u982d\u90e8\uff09\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u304c\u3001\u6210\u9577\u3068\u3068\u3082\u306b\u5897\u3048\u3066\u304d\u307e\u3059\u3002\u9aea\u8cea\u306f\u525b\u6bdb\u3084\u7656\u6bdb\u306e\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>4. \u795e\u7d4c\u767a\u9054\u30fb\u8a8d\u77e5\u6a5f\u80fd<\/strong><\/p>\n\n\n\n<p>\u307b\u307c\u5168\u4f8b\u3067\u3001\u8efd\u5ea6\u304b\u3089\u91cd\u5ea6\u306e\u767a\u9054\u3078\u306e\u5f71\u97ff\u304c\u8a8d\u3081\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u77e5\u7684\u969c\u5bb3\uff08ID\uff09 \/ \u767a\u9054\u9045\u6ede\uff08DD\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>\u8efd\u5ea6\u301c\u4e2d\u7b49\u5ea6<\/strong>\u306e\u77e5\u7684\u969c\u5bb3\u3092\u4f34\u3046\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u304c\u3001\u91cd\u5ea6\u306e\u5834\u5408\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u904b\u52d5\u767a\u9054\uff08\u9996\u3059\u308f\u308a\u3001\u6b69\u884c\uff09\u306e\u9045\u308c\u3082\u898b\u3089\u308c\u307e\u3059\u304c\u3001\u591a\u304f\u306e\u304a\u5b50\u3055\u3093\u306f\u72ec\u6b69\u3092\u7372\u5f97\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u8a00\u8a9e\u767a\u9054\u9045\u6ede:<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>\u9855\u8457\u306a\u7279\u5fb4<\/strong>\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u7406\u89e3\u3057\u3066\u3044\u308b\u8a00\u8449\uff08\u53d7\u5bb9\u8a00\u8a9e\uff09\u306b\u6bd4\u3079\u3066\u3001\u8a71\u3059\u8a00\u8449\uff08\u8868\u51fa\u8a00\u8a9e\uff09\u304c\u9045\u308c\u308b\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u3002\u300c\u8a00\u3063\u3066\u3044\u308b\u3053\u3068\u306f\u5206\u304b\u3063\u3066\u3044\u308b\u306e\u306b\u3001\u8a00\u8449\u304c\u51fa\u306b\u304f\u3044\u300d\u3068\u3044\u3046\u72b6\u614b\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u7c97\u5927\u306a\u767a\u58f0\uff08\u58f0\u304c\u4f4e\u3044\u3001\u30cf\u30b9\u30ad\u30fc\u30dc\u30a4\u30b9\uff09\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u884c\u52d5\u7279\u6027:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u4eba\u61d0\u3063\u3053\u304f\u3001\u660e\u308b\u3044\u6027\u683c\u3067\u3042\u308b\u3053\u3068\u304c\u591a\u3044\u3068\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u4e00\u65b9\u3067\u3001\u81ea\u9589\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u75c7\uff08ASD\uff09\u3084\u6ce8\u610f\u6b20\u9665\u30fb\u591a\u52d5\u6027\u969c\u5bb3\uff08ADHD\uff09\u306e\u7279\u6027\u3001\u4e0d\u5b89\u306e\u5f37\u3055\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>5. \u6210\u9577\u30fb\u6804\u990a<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u54fa\u4e73\u969c\u5bb3\u30fb\u6442\u98df\u969c\u5bb3:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u4e73\u5150\u671f\u306b\u30df\u30eb\u30af\u3092\u98f2\u3080\u529b\u304c\u5f31\u304b\u3063\u305f\u308a\u3001\u5438\u3046\u306e\u304c\u4e0b\u624b\u3060\u3063\u305f\u308a\u3057\u3066\u3001\u4f53\u91cd\u304c\u5897\u3048\u306b\u304f\u3044\uff08Failure to thrive\uff09\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u4f4e\u8eab\u9577:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u51fa\u751f\u6642\u306f\u6b63\u5e38\u7bc4\u56f2\u306e\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u304c\u3001\u5e7c\u5150\u671f\u4ee5\u964d\u306b\u4f4e\u8eab\u9577\uff08-2SD\u4ee5\u4e0b\uff09\u3068\u306a\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u9aa8\u5e74\u9f62\u306e\u9045\u308c\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/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>\u8133:<\/strong> \u8133\u6881\u306e\u4f4e\u5f62\u6210\uff08\u53f3\u8133\u3068\u5de6\u8133\u3092\u3064\u306a\u3050\u6a4b\u304c\u7d30\u3044\uff09\u304c\u7d04\u534a\u6570\u306b\u898b\u3089\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5185\u81d3:<\/strong> \u5148\u5929\u6027\u5fc3\u75be\u60a3\u3001\u814e\u5947\u5f62\u3001\u505c\u7559\u7cbe\u5de3\uff08\u7537\u5150\uff09\u306a\u3069\u304c\u5408\u4f75\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u91cd\u7be4\u306a\u3082\u306e\u306f\u6bd4\u8f03\u7684\u5c11\u306a\u3044\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u773c\u30fb\u8033:<\/strong> \u8996\u529b\u969c\u5bb3\uff08\u9060\u8996\u30fb\u4e71\u8996\uff09\u3001\u96e3\u8074\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u539f\u56e0<\/strong><\/h2>\n\n\n\n<p><strong>6\u756a\u67d3\u8272\u4f53\uff086q25.3\uff09\u306b\u3042\u308bARID1B\u907a\u4f1d\u5b50\u306e\u6a5f\u80fd\u4e0d\u5168<\/strong>\u304c\u539f\u56e0\u3067\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u767a\u751f\u6a5f\u5e8f<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>De novo\uff08\u65b0\u751f\u7a81\u7136\u5909\u7570\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>CSS1\u306e<strong>\u5927\u591a\u6570<\/strong>\u306f\u3001\u4e21\u89aa\u304b\u3089\u306e\u907a\u4f1d\u3067\u306f\u306a\u304f\u3001\u53d7\u7cbe\u306e\u904e\u7a0b\uff08\u7cbe\u5b50\u3084\u5375\u5b50\u304c\u4f5c\u3089\u308c\u308b\u6642\u3001\u307e\u305f\u306f\u53d7\u7cbe\u76f4\u5f8c\uff09\u3067\u5076\u7136\u751f\u3058\u305f\u7a81\u7136\u5909\u7570\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u89aa\u306e\u5e74\u9f62\u3084\u598a\u5a20\u4e2d\u306e\u74b0\u5883\u304c\u539f\u56e0\u3067\u8d77\u3053\u308b\u3082\u306e\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/li>\n\n\n\n<li>\u3053\u306e\u5834\u5408\u3001\u4e21\u89aa\u306e\u907a\u4f1d\u5b50\u306f\u6b63\u5e38\u3067\u3042\u308a\u3001\u6b21\u5b50\u3078\u306e\u518d\u767a\u30ea\u30b9\u30af\u306f\u975e\u5e38\u306b\u4f4e\u3044\uff08\u4e00\u822c\u96c6\u56e3\u3068\u540c\u7a0b\u5ea6\u301c1%\u4ee5\u4e0b\uff09\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u5bb6\u65cf\u6027\uff08\u7a00\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u6975\u3081\u3066\u7a00\u3067\u3059\u304c\u3001\u89aa\u304c\u75c7\u72b6\u306e\u8efd\u3044\uff08\u30e2\u30b6\u30a4\u30af\u306a\u3069\uff09\u4fdd\u56e0\u8005\u3067\u3042\u308b\u5834\u5408\u306b\u907a\u4f1d\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u30cf\u30d7\u30ed\u4e0d\u5168\uff08Haploinsufficiency\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><em>ARID1B<\/em>\u907a\u4f1d\u5b50\u306f\u3001\u901a\u5e382\u672c\uff08\u7236\u7531\u6765\u30fb\u6bcd\u7531\u6765\uff09\u3067\u6a5f\u80fd\u3057\u3066\u3044\u307e\u3059\u304c\u3001CSS1\u3067\u306f\u305d\u306e\u3046\u3061\u306e1\u672c\u306b\u5909\u7570\u3084\u6b20\u5931\u304c\u751f\u3058\u3001\u6a5f\u80fd\u3057\u306a\u304f\u306a\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u6b8b\u308a\u306e1\u672c\u3060\u3051\u3067\u306f\u3001SWI\/SNF\u8907\u5408\u4f53\u3092\u5341\u5206\u306b\u50cd\u304b\u305b\u308b\u305f\u3081\u306e\u30bf\u30f3\u30d1\u30af\u8cea\u91cf\u304c\u8db3\u308a\u305a\uff08\u30cf\u30d7\u30ed\u4e0d\u5168\uff09\u3001\u907a\u4f1d\u5b50\u306e\u8aad\u307f\u51fa\u3057\u8abf\u6574\uff08\u30af\u30ed\u30de\u30c1\u30f3\u30ea\u30e2\u30c7\u30ea\u30f3\u30b0\uff09\u304c\u4e0d\u5b8c\u5168\u306b\u306a\u308a\u3001\u69d8\u3005\u306a\u75c7\u72b6\u304c\u73fe\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u306a\u305c\u300c\u5c0f\u6307\u300d\u3068\u300c\u8133\u300d\u306a\u306e\u304b\uff1f<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><em>ARID1B<\/em>\u304c\u5236\u5fa1\u3057\u3066\u3044\u308b\u907a\u4f1d\u5b50\u7fa4\u304c\u3001\u80ce\u5150\u671f\u306e\u300c\u6307\u5148\u306e\u672b\u7bc0\u9aa8\u306e\u5f62\u6210\u300d\u3068\u300c\u795e\u7d4c\u7d30\u80de\u306e\u5206\u5316\u30fb\u767a\u9054\u300d\u306b\u7279\u306b\u91cd\u8981\u306a\u5f79\u5272\u3092\u679c\u305f\u3057\u3066\u3044\u308b\u305f\u3081\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u8a3a\u65ad\u65b9\u6cd5<\/strong><\/h2>\n\n\n\n<p>\u300c\u5c0f\u6307\u306e\u722a\u304c\u306a\u3044\u300d\u300c\u591a\u6bdb\u300d\u300c\u7279\u5fb4\u7684\u306a\u9854\u8c8c\u300d\u306a\u3069\u306e\u81e8\u5e8a\u75c7\u72b6\u304b\u3089\u7591\u308f\u308c\u307e\u3059\u304c\u3001\u75c7\u72b6\u304c\u591a\u69d8\u3067\u3042\u308b\u305f\u3081\u3001\u78ba\u5b9a\u8a3a\u65ad\u306b\u306f\u907a\u4f1d\u5b66\u7684\u691c\u67fb\u304c\u4e0d\u53ef\u6b20\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u8eab\u4f53\u8a3a\u5bdf\u30fb\u30ec\u30f3\u30c8\u30b2\u30f3:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u624b\u8db3\u306e\u5c0f\u6307\u3092\u6ce8\u610f\u6df1\u304f\u89b3\u5bdf\u3057\u307e\u3059\u3002\u722a\u304c\u5c0f\u3055\u3044\u3001\u3042\u308b\u3044\u306f\u6b20\u640d\u3057\u3066\u3044\u306a\u3044\u304b\u3092\u78ba\u8a8d\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u624b\u306e\u30ec\u30f3\u30c8\u30b2\u30f3\u64ae\u5f71\u3092\u884c\u3044\u3001\u672b\u7bc0\u9aa8\u306e\u4f4e\u5f62\u6210\u3092\u78ba\u8a8d\u3057\u307e\u3059\u3002\u3053\u308c\u306f\u975e\u5e38\u306b\u5f37\u529b\u306a\u8a3a\u65ad\u6839\u62e0\u306b\u306a\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u907a\u4f1d\u5b66\u7684\u691c\u67fb\uff08\u6b21\u4e16\u4ee3\u30b7\u30fc\u30b1\u30f3\u30b5\u30fc\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u5f93\u6765\u306e\u67d3\u8272\u4f53\u691c\u67fb\uff08G\u30d0\u30f3\u30c9\uff09\u3067\u306f\u3001\u5fae\u5c0f\u306a\u6b20\u5931\u3084\u70b9\u5909\u7570\u306f\u898b\u3064\u3051\u3089\u308c\u307e\u305b\u3093\u3002<\/li>\n\n\n\n<li><strong>\u5168\u30a8\u30af\u30bd\u30fc\u30e0\u89e3\u6790\uff08WES\uff09\u3084\u907a\u4f1d\u5b50\u30d1\u30cd\u30eb\u691c\u67fb<\/strong>\u304c\u3001\u8a3a\u65ad\u306e\u30b4\u30fc\u30eb\u30c9\u30b9\u30bf\u30f3\u30c0\u30fc\u30c9\u3067\u3059\u3002<\/li>\n\n\n\n<li><em>ARID1B<\/em>\u907a\u4f1d\u5b50\u306b\u5909\u7570\u304c\u898b\u3064\u304b\u308c\u3070\u78ba\u5b9a\u8a3a\u65ad\u3068\u306a\u308a\u307e\u3059\u3002CSS\u3092\u7591\u3046\u5834\u5408\u306f\u3001\u4ed6\u306eSWI\/SNF\u95a2\u9023\u907a\u4f1d\u5b50\uff08<em>SMARCB1<\/em>, <em>SMARCA4<\/em>\u306a\u3069\uff09\u3082\u540c\u6642\u306b\u8abf\u3079\u308b\u3053\u3068\u304c\u4e00\u822c\u7684\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u753b\u50cf\u691c\u67fb\uff08MRI \/ \u30a8\u30b3\u30fc\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8133\u6881\u4f4e\u5f62\u6210\u306e\u78ba\u8a8d\u306e\u305f\u3081\u306e\u982d\u90e8MRI\u3001\u5fc3\u75be\u60a3\u3084\u814e\u5947\u5f62\u306e\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u306e\u305f\u3081\u306e\u30a8\u30b3\u30fc\u691c\u67fb\u3092\u884c\u3044\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>\u6839\u672c\u7684\u306a\u907a\u4f1d\u5b50\u6cbb\u7642\u6cd5\u306f\u307e\u3060\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\u767a\u9054\u3092\u4fc3\u3059**\u7642\u80b2\uff08\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3\uff09**\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\uff08\u6700\u512a\u5148\uff09<\/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>\u8a3a\u65ad\u5f8c\u3001\u7406\u5b66\u7642\u6cd5\uff08PT\uff09\u3001\u4f5c\u696d\u7642\u6cd5\uff08OT\uff09\u3001\u8a00\u8a9e\u8074\u899a\u7642\u6cd5\uff08ST\uff09\u3092\u958b\u59cb\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u8a00\u8a9e\u8074\u899a\u7642\u6cd5\uff08ST\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8a00\u8a9e\u767a\u9054\u306e\u9045\u308c\uff08\u7279\u306b\u8868\u51fa\uff09\u304c\u76ee\u7acb\u3064\u305f\u3081\u3001\u65e9\u671f\u304b\u3089\u306e\u4ecb\u5165\u304c\u91cd\u8981\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u30b5\u30a4\u30f3\u3001\u7d75\u30ab\u30fc\u30c9\u3001\u30bf\u30d6\u30ec\u30c3\u30c8\u7aef\u672b\u306a\u3069\u306eAAC\uff08\u88dc\u52a9\u4ee3\u66ff\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\uff09\u3092\u6d3b\u7528\u3057\u3001\u300c\u4f1d\u3048\u305f\u3044\u306e\u306b\u4f1d\u308f\u3089\u306a\u3044\u300d\u30d5\u30e9\u30b9\u30c8\u30ec\u30fc\u30b7\u30e7\u30f3\u3092\u8efd\u6e1b\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u6442\u98df\u56a5\u4e0b\u6a5f\u80fd\u306e\u8a55\u4fa1\u3068\u8a13\u7df4\u3082\u884c\u3044\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\u306b\u5408\u308f\u305b\u3066\u3001\u7279\u5225\u652f\u63f4\u5b66\u6821\u3084\u652f\u63f4\u5b66\u7d1a\u306a\u3069\u306e\u6559\u80b2\u74b0\u5883\u3092\u9078\u629e\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u8996\u899a\u7684\u306a\u8a18\u61b6\u529b\u304c\u826f\u3044\u5834\u5408\u304c\u591a\u3044\u305f\u3081\u3001\u8996\u899a\u652f\u63f4\u3092\u53d6\u308a\u5165\u308c\u305f\u5b66\u7fd2\u304c\u6709\u52b9\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u6804\u990a\u30fb\u6210\u9577\u7ba1\u7406<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u6804\u990a\u30b5\u30dd\u30fc\u30c8:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u4e73\u5150\u671f\u306e\u54fa\u4e73\u969c\u5bb3\u306b\u5bfe\u3057\u3001\u9ad8\u30ab\u30ed\u30ea\u30fc\u30df\u30eb\u30af\u306e\u4f7f\u7528\u3084\u3001\u7d4c\u7ba1\u6804\u990a\uff08\u9f3b\u304b\u3089\u30c1\u30e5\u30fc\u30d6\uff09\u3092\u4e00\u6642\u7684\u306b\u884c\u3046\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u91cd\u5ea6\u306e\u6442\u98df\u969c\u5bb3\u304c\u3042\u308b\u5834\u5408\u306f\u3001\u80c3\u763b\u9020\u8a2d\u304c\u691c\u8a0e\u3055\u308c\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u304c\u3001CSS1\u3067\u306f\u305d\u3053\u307e\u3067\u81f3\u3089\u306a\u3044\u30b1\u30fc\u30b9\u3082\u591a\u3044\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u6210\u9577\u66f2\u7dda\u3092\u30e2\u30cb\u30bf\u30ea\u30f3\u30b0\u3057\u3001\u4f4e\u8eab\u9577\u304c\u8457\u3057\u3044\u5834\u5408\u306f\u5185\u5206\u6ccc\u79d1\u3067\u306e\u7cbe\u67fb\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u5408\u4f75\u75c7\u306e\u7ba1\u7406<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u773c\u79d1\u30fb\u8033\u9f3b\u79d1:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8996\u529b\u30fb\u8074\u529b\u306e\u5b9a\u671f\u691c\u67fb\u3092\u884c\u3044\u3001\u773c\u93e1\u3084\u88dc\u8074\u5668\u3067\u88dc\u6b63\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u6b6f\u79d1:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u6b6f\u4e26\u3073\u306e\u554f\u984c\u3084\u866b\u6b6f\u306b\u306a\u308a\u3084\u3059\u3044\u305f\u3081\u3001\u5b9a\u671f\u7684\u306a\u6b6f\u79d1\u691c\u8a3a\u3068\u30b1\u30a2\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u5916\u79d1\u7684\u6cbb\u7642:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u505c\u7559\u7cbe\u5de3\u3084\u30d8\u30eb\u30cb\u30a2\u3001\u5fc3\u75be\u60a3\u306a\u3069\u304c\u3042\u308b\u5834\u5408\u306f\u3001\u9069\u5207\u306a\u6642\u671f\u306b\u624b\u8853\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>4. \u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u60c5\u5831\u306e\u6574\u7406:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u300c\u30b3\u30d5\u30a3\u30f3\u30fb\u30b7\u30ea\u30b9\u75c7\u5019\u7fa4\u300d\u3068\u3044\u3046\u540d\u524d\u3067\u691c\u7d22\u3059\u308b\u3068\u3001\u91cd\u75c7\u4f8b\u306e\u53e4\u3044\u60c5\u5831\u304c\u51fa\u3066\u304d\u3066\u4e0d\u5b89\u306b\u306a\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u300cCSS1\uff08ARID1B\u578b\uff09\u300d\u306f\u6bd4\u8f03\u7684\u30de\u30a4\u30eb\u30c9\u306a\u7d4c\u904e\u3092\u305f\u3069\u308b\u3053\u3068\u3082\u591a\u3044\u3068\u3044\u3046\u6700\u65b0\u306e\u77e5\u898b\u3092\u5171\u6709\u3057\u3001\u898b\u901a\u3057\u3092\u7acb\u3066\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u5bb6\u65cf\u652f\u63f4:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u307b\u3068\u3093\u3069\u304c\u7a81\u7136\u5909\u7570\u3067\u3042\u308b\u305f\u3081\u3001\u89aa\u5fa1\u3055\u3093\u304c\u81ea\u5206\u3092\u8cac\u3081\u308b\u5fc5\u8981\u306f\u306a\u3044\u3053\u3068\u3092\u4f1d\u3048\u307e\u3059\u3002\u6b21\u5b50\u518d\u767a\u30ea\u30b9\u30af\u306b\u3064\u3044\u3066\u3082\u8aac\u660e\u3057\u307e\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>Coffin-Siris syndrome 1 (CSS1) \u306f\u3001\u4f53\u306e\u8a2d\u8a08\u56f3\u306e\u8aad\u307f\u65b9\u3092\u8abf\u6574\u3059\u308b\u300cARID1B\u907a\u4f1d\u5b50\u300d\u306e\u50cd\u304d\u304c\u5909\u308f\u308b\u3053\u3068\u3067\u8d77\u3053\u308b\u75be\u60a3\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u75c5\u6c17\u306f\u3001\u300c\u5c0f\u6307\u306e\u722a\u304c\u5c0f\u3055\u3044\u300d\u3068\u3044\u3046\u53ef\u611b\u3089\u3057\u3044\u7279\u5fb4\u304c\u3001\u8a3a\u65ad\u306e\u5927\u304d\u306a\u30d2\u30f3\u30c8\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u307e\u305f\u3001\u307e\u3064\u6bdb\u304c\u9577\u304f\u3001\u304d\u308a\u3063\u3068\u3057\u305f\u7709\u6bdb\u306e\u3001\u5370\u8c61\u7684\u306a\u304a\u9854\u7acb\u3061\u3092\u3057\u3066\u3044\u308b\u304a\u5b50\u3055\u3093\u304c\u591a\u3044\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3054\u5bb6\u65cf\u306b\u3068\u3063\u3066\u3001\u767a\u9054\u306e\u9045\u308c\u3084\u8a00\u8449\u306e\u9045\u308c\u306f\u5927\u304d\u306a\u5fc3\u914d\u4e8b\u304b\u3068\u601d\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3057\u304b\u3057\u3001CSS1\u306e\u304a\u5b50\u3055\u3093\u306f\u3001\u8a00\u8449\u3067\u8a71\u3059\u306e\u304c\u5c11\u3057\u82e6\u624b\u3067\u3082\u3001\u3053\u3061\u3089\u306e\u8a00\u3063\u3066\u3044\u308b\u3053\u3068\u306f\u3088\u304f\u7406\u89e3\u3057\u3066\u304a\u308a\u3001\u8eab\u632f\u308a\u3084\u8868\u60c5\u3067\u8c4a\u304b\u306b\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u3092\u53d6\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u6027\u683c\u306f\u660e\u308b\u304f\u3001\u4eba\u61d0\u3063\u3053\u3044\u5b50\u304c\u591a\u3044\u3068\u8a00\u308f\u308c\u3066\u304a\u308a\u3001\u5468\u56f2\u306e\u4eba\u3005\u306b\u611b\u3055\u308c\u308b\u5b58\u5728\u306b\u306a\u308b\u3067\u3057\u3087\u3046\u3002<\/p>\n\n\n\n<p>\u4e73\u5150\u671f\u306b\u306f\u30df\u30eb\u30af\u3092\u98f2\u3080\u306e\u304c\u4e0b\u624b\u3060\u3063\u305f\u308a\u3001\u4f53\u304c\u5c0f\u3055\u304b\u3063\u305f\u308a\u3068\u5fc3\u914d\u306a\u6642\u671f\u3082\u3042\u308a\u307e\u3059\u304c\u3001\u6210\u9577\u3068\u3068\u3082\u306b\u98df\u3079\u308b\u91cf\u3082\u5897\u3048\u3001\u4f53\u3082\u3057\u3063\u304b\u308a\u3057\u3066\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u91cd\u7be4\u306a\u5fc3\u81d3\u75c5\u306a\u3069\u306e\u5408\u4f75\u75c7\u3092\u6301\u3064\u3053\u3068\u306f\u6bd4\u8f03\u7684\u5c11\u306a\u304f\u3001\u591a\u304f\u306e\u304a\u5b50\u3055\u3093\u304c\u5143\u6c17\u306b\u5b66\u6821\u751f\u6d3b\u3092\u9001\u3063\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u8fd1\u5e74\u3001\u3053\u306e\u907a\u4f1d\u5b50\u306e\u7814\u7a76\u306f\u6025\u901f\u306b\u9032\u3093\u3067\u304a\u308a\u3001\u3053\u308c\u307e\u3067\u300c\u539f\u56e0\u4e0d\u660e\u300d\u3068\u3055\u308c\u3066\u3044\u305f\u591a\u304f\u306e\u304a\u5b50\u3055\u3093\u304c\u3001\u5b9f\u306f\u3053\u306eCSS1\u3067\u3042\u308b\u3053\u3068\u304c\u5206\u304b\u3063\u3066\u304d\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u5c0f\u5150\u79d1\u533b\u3001\u7642\u80b2\u30b9\u30bf\u30c3\u30d5\u3001\u5fc3\u7406\u58eb\u3001\u305d\u3057\u3066\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30e9\u30fc\u3068\u30c1\u30fc\u30e0\u3092\u7d44\u307f\u3001\u304a\u5b50\u3055\u3093\u306e\u3086\u3063\u304f\u308a\u3067\u3059\u304c\u7740\u5b9f\u306a\u6210\u9577\u3092\u3001\u9577\u304f\u3001\u6e29\u304b\u304f\u652f\u3048\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>Santen, G.W., et al.<\/strong> (2012). <em>Mutations in SWI\/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome.<\/em> Nature Genetics.\n<ul class=\"wp-block-list\">\n<li>(\u203bARID1B\u907a\u4f1d\u5b50\u306e\u5909\u7570\u304c\u30b3\u30d5\u30a3\u30f3\u30fb\u30b7\u30ea\u30b9\u75c7\u5019\u7fa4\u306e\u4e3b\u8981\u306a\u539f\u56e0\u3067\u3042\u308b\u3053\u3068\u3092\u7a81\u304d\u6b62\u3081\u305f\u3001\u6b74\u53f2\u7684\u304b\u3064\u6700\u3082\u91cd\u8981\u306a\u539f\u8457\u8ad6\u6587\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Tsurusaki, Y., et al.<\/strong> (2012). <em>Mutations affecting components of the SWI\/SNF complex cause Coffin-Siris syndrome.<\/em> Nature Genetics.\n<ul class=\"wp-block-list\">\n<li>(\u203b\u65e5\u672c\u306e\u7814\u7a76\u30b0\u30eb\u30fc\u30d7\u306b\u3088\u308b\u767a\u898b\u3002SWI\/SNF\u8907\u5408\u4f53\uff08SMARCB1, SMARCA4, ARID1A, ARID1B\u306a\u3069\uff09\u306e\u7570\u5e38\u304cCSS\u306e\u539f\u56e0\u3067\u3042\u308b\u3053\u3068\u3092\u5305\u62ec\u7684\u306b\u89e3\u660e\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Santen, G.W., et al.<\/strong> (2014). <em>The ARID1B phenotype: what we have learned so far.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203bARID1B\u5909\u7570\u3092\u6301\u3064\u591a\u6570\u306e\u60a3\u8005\u30c7\u30fc\u30bf\u3092\u89e3\u6790\u3057\u3001CSS\u306e\u5178\u578b\u7684\u306a\u7279\u5fb4\u3092\u6301\u305f\u306a\u3044\u77e5\u7684\u969c\u5bb3\u306e\u307f\u306e\u75c7\u4f8b\u3082\u591a\u3044\u3053\u3068\uff08\u8868\u73fe\u578b\u306e\u5e83\u304c\u308a\uff09\u3092\u5831\u544a\u3057\u305f\u30ec\u30d3\u30e5\u30fc\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Hoyer, J., et al.<\/strong> (2012). <em>Haploinsufficiency of ARID1B causes severe to mild intellectual disability with variable physical features.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203bARID1B\u306e\u30cf\u30d7\u30ed\u4e0d\u5168\u304c\u3001\u8eab\u4f53\u7684\u7279\u5fb4\u306e\u6709\u7121\u306b\u95a2\u308f\u3089\u305a\u3001\u77e5\u7684\u969c\u5bb3\u306e\u4e3b\u8981\u306a\u539f\u56e0\u907a\u4f1d\u5b50\u306e\u4e00\u3064\u3067\u3042\u308b\u3053\u3068\u3092\u793a\u3057\u305f\u7814\u7a76\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>GeneReviews\u00ae [Internet]<\/strong>: <em>Coffin-Siris Syndrome<\/em>. Initial Posting: 2013; Last Update: 2021. <em>Authors: Schrier Vergano SA, et al.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203b\u8a3a\u65ad\u57fa\u6e96\u3001\u6700\u65b0\u306e\u7ba1\u7406\u6307\u91dd\u3001\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u60c5\u5831\u3092\u7db2\u7f85\u3057\u305f\u3001\u81e8\u5e8a\u73fe\u5834\u3067\u6700\u3082\u4fe1\u983c\u3055\u308c\u308b\u30c7\u30fc\u30bf\u30d9\u30fc\u30b9\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Unique (Rare Chromosome Disorder Support Group)<\/strong>: <em>Coffin-Siris syndrome<\/em> (2019).\n<ul class=\"wp-block-list\">\n<li>(\u203b\u60a3\u8005\u5bb6\u65cf\u5411\u3051\u306b\u3001\u5c0f\u6307\u306e\u7279\u5fb4\u3001\u6442\u98df\u306e\u554f\u984c\u3001\u767a\u9054\u306e\u76ee\u5b89\u3001\u7642\u80b2\u306e\u30a2\u30c9\u30d0\u30a4\u30b9\u306a\u3069\u3092\u5e73\u6613\u306b\u307e\u3068\u3081\u305f\u30ac\u30a4\u30c9\u30d6\u30c3\u30af\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-17258","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\/17258","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening"}],"about":[{"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/types\/genetic-screening"}],"version-history":[{"count":2,"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/17258\/revisions"}],"predecessor-version":[{"id":17260,"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/17258\/revisions\/17260"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/media?parent=17258"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}