{"id":17031,"date":"2026-01-21T05:16:46","date_gmt":"2026-01-21T05:16:46","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/gene\/?post_type=genetic-screening&#038;p=17031"},"modified":"2026-01-21T05:17:24","modified_gmt":"2026-01-21T05:17:24","slug":"3p25-3-deletion-syndrome","status":"publish","type":"genetic-screening","link":"https:\/\/www.hiro-clinic.or.jp\/gene\/genetic-screening\/3p25-3-deletion-syndrome\/","title":{"rendered":"3p25.3 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>3p25.3\u6b20\u5931\u75c7\u5019\u7fa4<\/li>\n\n\n\n<li>3p25.3\u5fae\u7d30\u6b20\u5931\u75c7\u5019\u7fa4\uff083p25.3 microdeletion syndrome\uff09<\/li>\n\n\n\n<li>3p25.3\u30e2\u30ce\u30bd\u30df\u30fc\uff08Monosomy 3p25.3\uff09<\/li>\n\n\n\n<li>\u9060\u4f4d3p\u6b20\u5931\u75c7\u5019\u7fa4\uff08Distal 3p deletion syndrome\uff09\u306e\u4e00\u90e8\n<ul class=\"wp-block-list\">\n<li>\u203b\u6b74\u53f2\u7684\u306b\u306f\u30013\u756a\u67d3\u8272\u4f53\u77ed\u8155\u672b\u7aef\u306e\u6b20\u5931\u3092\u7dcf\u79f0\u3057\u3066\u300c3p-\u75c7\u5019\u7fa4\uff083p minus syndrome\uff09\u300d\u3068\u547c\u3093\u3067\u3044\u307e\u3057\u305f\u3002\u672c\u75be\u60a3\u306f\u305d\u306e\u4e2d\u3067\u3082\u300c25.3\u300d\u9818\u57df\u306b\u9650\u5c40\u3057\u305f\u3082\u306e\u3092\u6307\u3057\u307e\u3059\u304c\u3001\u81e8\u5e8a\u75c7\u72b6\u306f3p-\u75c7\u5019\u7fa4\u3068\u591a\u304f\u91cd\u306a\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li>\u95a2\u9023\uff1a\u30d5\u30a9\u30f3\u30fb\u30d2\u30c3\u30da\u30eb\u30fb\u30ea\u30f3\u30c9\u30a6\u75c5\uff08Von Hippel-Lindau disease; VHL\uff09\n<ul class=\"wp-block-list\">\n<li>\u203b\u6b20\u5931\u9818\u57df\u306b<em>VHL<\/em>\u907a\u4f1d\u5b50\u304c\u542b\u307e\u308c\u308b\u5834\u5408\u3001\u3053\u306e\u75be\u60a3\u306e\u30ea\u30b9\u30af\u7ba1\u7406\u304c\u5fc5\u8981\u3068\u306a\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li>\u95a2\u9023\uff1aSETD5\u95a2\u9023\u969c\u5bb3 \/ BRPF1\u95a2\u9023\u969c\u5bb3\n<ul class=\"wp-block-list\">\n<li>\u203b\u672c\u75c7\u5019\u7fa4\u306e\u77e5\u7684\u969c\u5bb3\u3084\u9854\u8c8c\u306e\u7279\u5fb4\u306e\u4e3b\u306a\u539f\u56e0\u3068\u306a\u308b\u907a\u4f1d\u5b50\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>3\u756a\u67d3\u8272\u4f53 \u77ed\u8155\uff08p\uff0925.3\u9818\u57df<\/strong><\/p>\n\n\n\n<p>\u672c\u75be\u60a3\u306f\u3001\u30d2\u30c8\u306e3\u756a\u67d3\u8272\u4f53\u306e\u77ed\u8155\uff08p\u30a2\u30fc\u30e0\uff09\u306e\u672b\u7aef\u306b\u8fd1\u3044\u300c25.3\u300d\u3068\u547c\u3070\u308c\u308b\u30d0\u30f3\u30c9\u9818\u57df\u306b\u304a\u3044\u3066\u3001DNA\u914d\u5217\u306e\u4e00\u90e8\u304c\u6b20\u5931\u3059\u308b\u3053\u3068\uff08\u30b3\u30d4\u30fc\u6570\u304c1\u3064\u306b\u306a\u308b\uff1a\u30cf\u30d7\u30ed\u4e0d\u5168\uff09\u306b\u3088\u3063\u3066\u751f\u3058\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3010\u30b2\u30ce\u30e0\u4e0a\u306e\u8a73\u7d30\u3068\u30af\u30ea\u30c6\u30a3\u30ab\u30eb\u30ea\u30fc\u30b8\u30e7\u30f3\u3011<\/p>\n\n\n\n<p>3p25.3\u9818\u57df\u306f\u3001\u907a\u4f1d\u5b50\u5bc6\u5ea6\u304c\u9ad8\u304f\u3001\u767a\u751f\u3084\u816b\u760d\u6291\u5236\u306b\u95a2\u308f\u308b\u91cd\u8981\u306a\u907a\u4f1d\u5b50\u304c\u5bc6\u96c6\u3057\u3066\u3044\u308b\u9818\u57df\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u6b20\u5931\u306e\u30b5\u30a4\u30ba\u306f\u60a3\u8005\u3055\u3093\u306b\u3088\u3063\u3066\u7570\u306a\u308a\u3001\u6570\u767e\u30ad\u30ed\u30d9\u30fc\u30b9\uff08kb\uff09\u304b\u3089\u6570\u30e1\u30ac\u30d9\u30fc\u30b9\uff08Mb\uff09\u307e\u3067\u69d8\u3005\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u9818\u57df\u306e\u6b20\u5931\u306f\u3001\u96a3\u63a5\u3059\u308b3p26\u9818\u57df\u307e\u3067\u53ca\u3076\u300c\u672b\u7aef\u6b20\u5931\uff08Terminal deletion\uff09\u300d\u306e\u4e00\u90e8\u3068\u3057\u3066\u898b\u3064\u304b\u308b\u3053\u3068\u3082\u3042\u308c\u3070\u30013p25.3\u9818\u57df\u3060\u3051\u304c\u629c\u3051\u3066\u3044\u308b\u300c\u4e2d\u9593\u6b20\u5931\uff08Interstitial deletion\uff09\u300d\u3068\u3057\u3066\u898b\u3064\u304b\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u8fd1\u5e74\u3001\u3053\u306e\u9818\u57df\u306b\u542b\u307e\u308c\u308bSETD5\u3001BRPF1\u3001VHL\u306a\u3069\u306e\u907a\u4f1d\u5b50\u306e\u6b20\u5931\u304c\u3001\u672c\u75c7\u5019\u7fa4\u306e\u4e3b\u8981\u306a\u75c7\u72b6\u3092\u5f62\u6210\u3057\u3066\u3044\u308b\u3053\u3068\u304c\u660e\u3089\u304b\u306b\u306a\u3063\u3066\u3044\u307e\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>\u6975\u3081\u3066\u7a00\uff08Ultra-rare\uff09<\/strong><\/p>\n\n\n\n<p>\u6b63\u78ba\u306a\u767a\u751f\u983b\u5ea6\u306f\u78ba\u7acb\u3055\u308c\u3066\u3044\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u5e83\u7fa9\u306e\u300c3p-\u75c7\u5019\u7fa4\uff083\u756a\u67d3\u8272\u4f53\u77ed\u8155\u6b20\u5931\uff09\u300d\u5168\u4f53\u3068\u3057\u3066\u306f\u3001\u51fa\u751f50,000\u301c100,000\u4eba\u306b1\u4eba\u7a0b\u5ea6\u306e\u983b\u5ea6\u3068\u63a8\u5b9a\u3055\u308c\u3066\u3044\u307e\u3059\u304c\u3001\u300c3p25.3\u300d\u306b\u9650\u5c40\u3057\u305f\u6b20\u5931\u306e\u5831\u544a\u6570\u306f\u4e16\u754c\u3067\u3082\u6570\u5341\u4f8b\u301c\u767e\u4f8b\u7a0b\u5ea6\u306b\u3068\u3069\u307e\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3057\u304b\u3057\u3001\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u67d3\u8272\u4f53\u691c\u67fb\uff08CMA\uff09\u306e\u666e\u53ca\u306b\u3088\u308a\u3001\u3053\u308c\u307e\u3067\u300c\u539f\u56e0\u4e0d\u660e\u306e\u767a\u9054\u9045\u6ede\u300d\u3084\u300c\u81ea\u9589\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u75c7\u300d\u3068\u8a3a\u65ad\u3055\u308c\u3066\u3044\u305f\u65b9\u306e\u4e2d\u304b\u3089\u3001\u3053\u306e\u5fae\u7d30\u6b20\u5931\u304c\u898b\u3064\u304b\u308b\u30b1\u30fc\u30b9\u304c\u5897\u3048\u3066\u304d\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u6027\u5225\u306b\u3088\u308b\u767a\u751f\u983b\u5ea6\u306e\u5dee\u306f\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u305b\u3093\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>3p25.3 deletion syndrome\u306e\u75c7\u72b6\u306f\u3001**\u300c\u6210\u9577\u969c\u5bb3\u300d\u300c\u77e5\u7684\u969c\u5bb3\u30fb\u767a\u9054\u9045\u6ede\u300d\u300c\u7279\u5fb4\u7684\u306a\u9854\u8c8c\u300d<strong>\u306e3\u3064\u304c\u4e2d\u6838\u3068\u306a\u308a\u307e\u3059\u304c\u3001\u6b20\u5931\u7bc4\u56f2\u306b<\/strong><strong><em>VHL<\/em><\/strong><strong>\u907a\u4f1d\u5b50\u304c\u542b\u307e\u308c\u308b\u5834\u5408\u306f\u3001\u5c06\u6765\u7684\u306a<\/strong>\u300c\u816b\u760d\u30ea\u30b9\u30af\u300d**\u3078\u306e\u914d\u616e\u304c\u533b\u5b66\u7684\u306b\u6700\u3082\u91cd\u8981\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u6210\u9577\u30fb\u8eab\u4f53\u7684\u7279\u5fb4<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5b50\u5bae\u5185\u767a\u80b2\u9045\u5ef6\uff08IUGR\uff09 \/ \u4f4e\u51fa\u751f\u4f53\u91cd:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u598a\u5a20\u4e2d\u304b\u3089\u80ce\u5150\u304c\u5c0f\u3055\u3081\u3067\u3042\u308a\u3001\u51fa\u751f\u6642\u3082\u4f4e\u4f53\u91cd\uff08SGA\u5150\uff09\u3067\u3042\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u51fa\u751f\u5f8c\u306e\u6210\u9577\u969c\u5bb3:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8eab\u9577\u3084\u4f53\u91cd\u306e\u5897\u3048\u304c\u7de9\u3084\u304b\u3067\u3001\u4f4e\u8eab\u9577\u3068\u306a\u308b\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u5c0f\u982d\u75c7\uff08Microcephaly\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u982d\u56f2\u304c\u5c0f\u3055\u304f\u3001\u5c0f\u9854\u306e\u5370\u8c61\u3092\u4e0e\u3048\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u3053\u308c\u306f\u8133\u306e\u5bb9\u91cf\u304c\u5c0f\u3055\u3044\u3053\u3068\u3092\u53cd\u6620\u3057\u3066\u3044\u308b\u5834\u5408\u304c\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>3p-\u75c7\u5019\u7fa4\u306b\u5171\u901a\u3059\u308b\u3001\u611b\u3089\u3057\u304f\u3082\u7279\u5fb4\u7684\u306a\u304a\u9854\u7acb\u3061\u304c\u898b\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u773c\u306e\u7279\u5fb4:<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>\u773c\u77bc\u4e0b\u5782\uff08Ptosis\uff09\uff1a<\/strong> \u307e\u3076\u305f\u304c\u4e0b\u304c\u3063\u3066\u3044\u308b\u3053\u3068\u304c\u975e\u5e38\u306b\u591a\u304f\u3001\u672c\u75c7\u5019\u7fa4\u306e\u4ee3\u8868\u7684\u306a\u7279\u5fb4\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u773c\u9593\u958b\u96e2\uff08\u76ee\u304c\u96e2\u308c\u3066\u3044\u308b\uff09\u3001\u5185\u773c\u89d2\u8d05\u76ae\uff08\u76ee\u982d\u306e\u76ae\u819a\u306e\u88ab\u3055\u308a\uff09\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u8033\u306e\u7279\u5fb4:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8033\u306e\u4f4d\u7f6e\u304c\u4f4e\u3044\uff08\u4f4e\u4f4d\u4ed8\u7740\u8033\uff09\u3001\u8033\u4ecb\u306e\u5f62\u304c\u5358\u7d14\u3001\u3042\u308b\u3044\u306f\u5f8c\u65b9\u306b\u56de\u8ee2\u3057\u3066\u3044\u308b\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u9f3b\u30fb\u53e3:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u9f3b\u304c\u77ed\u3044\u3001\u9f3b\u6839\u90e8\u304c\u4f4e\u3044\u3002<\/li>\n\n\n\n<li>\u4eba\u4e2d\uff08\u9f3b\u306e\u4e0b\uff09\u304c\u9577\u3044\u3002<\/li>\n\n\n\n<li>\u5c0f\u984e\u75c7\uff08\u3042\u3054\u304c\u5c0f\u3055\u3044\uff09\u3001\u8584\u3044\u4e0a\u5507\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u305d\u306e\u4ed6:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u7709\u6bdb\u304c\u3064\u306a\u304c\u3063\u3066\u3044\u308b\uff08Synophrys\uff09\u5834\u5408\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u795e\u7d4c\u767a\u9054\u30fb\u8a8d\u77e5\u6a5f\u80fd<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\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\u5e45\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u591a\u304f\u306f\u4e2d\u7b49\u5ea6\u301c\u91cd\u5ea6\u306e\u77e5\u7684\u969c\u5bb3\u3092\u4f34\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><em>SETD5<\/em>\u3084<em>BRPF1<\/em>\u907a\u4f1d\u5b50\u306e\u6b20\u5931\u304c\u5927\u304d\u304f\u95a2\u4e0e\u3057\u3066\u3044\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>\u8a00\u8449\u306e\u7406\u89e3\u30fb\u8868\u51fa\u3068\u3082\u306b\u9045\u308c\u308b\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u904b\u52d5\u767a\u9054\u9045\u6ede:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u7b4b\u7dca\u5f35\u4f4e\u4e0b\uff08\u4f53\u304c\u67d4\u3089\u304b\u3044\uff09\u3092\u4f34\u3046\u3053\u3068\u304c\u591a\u304f\u3001\u9996\u3059\u308f\u308a\u3084\u6b69\u884c\u958b\u59cb\u304c\u9045\u308c\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><strong>\u81ea\u9589\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u75c7\uff08ASD\uff09\uff1a<\/strong> \u793e\u4f1a\u6027\u306e\u82e6\u624b\u3055\u3001\u3053\u3060\u308f\u308a\u3001\u5e38\u540c\u884c\u52d5\u306a\u3069\u304c\u898b\u3089\u308c\u308b\u983b\u5ea6\u304c\u9ad8\u3044\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u591a\u52d5\u3001\u6ce8\u610f\u6563\u6f2b\u3001\u5f37\u8feb\u7684\u306a\u884c\u52d5\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>4. \u816b\u760d\u30ea\u30b9\u30af\uff08VHL\u907a\u4f1d\u5b50\u95a2\u9023\u30fb\u6700\u91cd\u8981\uff09<\/strong><\/p>\n\n\n\n<p>\u3082\u3057\u6b20\u5931\u7bc4\u56f2\u306b<strong>VHL\u907a\u4f1d\u5b50<\/strong>\u304c\u542b\u307e\u308c\u3066\u3044\u308b\u5834\u5408\u3001**\u300c\u30d5\u30a9\u30f3\u30fb\u30d2\u30c3\u30da\u30eb\u30fb\u30ea\u30f3\u30c9\u30a6\u75c5\uff08VHL\u75c5\uff09\u300d**\u3068\u540c\u69d8\u306e\u7ba1\u7406\u304c\u5fc5\u8981\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u8840\u7ba1\u82bd\u816b:<\/strong> \u5c0f\u8133\u3084\u7db2\u819c\u3001\u810a\u9ac4\u306b\u8840\u7ba1\u306e\u584a\u306e\u3088\u3046\u306a\u816b\u760d\u304c\u3067\u304d\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u814e\u7d30\u80de\u304c\u3093:<\/strong> \u814e\u81d3\u306b\u304c\u3093\u304c\u3067\u304d\u308b\u30ea\u30b9\u30af\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u8910\u8272\u7d30\u80de\u816b:<\/strong> \u526f\u814e\u306a\u3069\u306e\u816b\u760d\u306b\u3088\u308a\u3001\u9ad8\u8840\u5727\u306a\u3069\u3092\u5f15\u304d\u8d77\u3053\u3059\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u203b\u6ce8\u610f:<\/strong> \u3059\u3079\u3066\u306e3p25.3\u6b20\u5931\u60a3\u8005\u3055\u3093\u304cVHL\u75c5\u306b\u306a\u308b\u308f\u3051\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u6b20\u5931\u7bc4\u56f2\u306b<em>VHL<\/em>\u907a\u4f1d\u5b50\u304c\u542b\u307e\u308c\u3066\u3044\u308b\u304b\u3069\u3046\u304b\u306e\u78ba\u8a8d\u304c\u5fc5\u9808\u3067\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>5. \u305d\u306e\u4ed6\u306e\u5408\u4f75\u75c7<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5fc3\u75be\u60a3:<\/strong> \u5fc3\u623f\u4e2d\u9694\u6b20\u640d\u75c7\uff08ASD\uff09\u3001\u5fc3\u5ba4\u4e2d\u9694\u6b20\u640d\u75c7\uff08VSD\uff09\u3001\u623f\u5ba4\u4e2d\u9694\u6b20\u640d\u75c7\uff08AVSD\uff09\u306a\u3069\u306e\u5148\u5929\u6027\u5fc3\u75be\u60a3\uff08\u7d0430%\u7a0b\u5ea6\uff09\u3002<\/li>\n\n\n\n<li><strong>\u814e\u30fb\u6ccc\u5c3f\u5668:<\/strong> \u6c34\u814e\u75c7\u3001\u591a\u56a2\u80de\u814e\u306a\u3069\u3002<\/li>\n\n\n\n<li><strong>\u8074\u899a:<\/strong> \u611f\u97f3\u6027\u96e3\u8074\uff08<em>ATP2B2<\/em>\u907a\u4f1d\u5b50\u6b20\u5931\u306b\u95a2\u9023\uff09\u3002<\/li>\n\n\n\n<li><strong>\u6d88\u5316\u5668:<\/strong> \u80c3\u98df\u9053\u9006\u6d41\u75c7\u3001\u54fa\u4e73\u56f0\u96e3\u3002<\/li>\n\n\n\n<li><strong>\u9aa8\u683c:<\/strong> \u591a\u6307\u75c7\uff08\u6307\u304c\u591a\u3044\uff09\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u3053\u308c\u306f3p25-26\u9818\u57df\u306e\u6b20\u5931\u306b\u7279\u5fb4\u7684\u3067\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u539f\u56e0<\/strong><\/h2>\n\n\n\n<p><strong>3\u756a\u67d3\u8272\u4f53\u77ed\u8155\uff083p25.3\uff09\u306b\u304a\u3051\u308b\u5fae\u7d30\u6b20\u5931<\/strong>\u304c\u539f\u56e0\u3067\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u8cac\u4efb\u907a\u4f1d\u5b50\u306e\u30cf\u30d7\u30ed\u4e0d\u5168<\/strong><\/p>\n\n\n\n<p>\u3053\u306e\u9818\u57df\u306b\u306f\u3001\u795e\u7d4c\u767a\u9054\u3084\u816b\u760d\u6291\u5236\u306b\u91cd\u8981\u306a\u907a\u4f1d\u5b50\u304c\u4e26\u3093\u3067\u304a\u308a\u3001\u305d\u308c\u3089\u304c\u307e\u3068\u3081\u3066\u5931\u308f\u308c\u308b\uff08\u96a3\u63a5\u907a\u4f1d\u5b50\u75c7\u5019\u7fa4\uff09\u3053\u3068\u3067\u591a\u5f69\u306a\u75c7\u72b6\u304c\u73fe\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>SETD5 (SET Domain Containing 5):<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>\u77e5\u7684\u969c\u5bb3\u30fb\u81ea\u9589\u75c7\u306e\u4e3b\u8981\u56e0<\/strong>\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u30d2\u30b9\u30c8\u30f3\u30e1\u30c1\u30eb\u5316\u306b\u95a2\u308f\u308b\u907a\u4f1d\u5b50\u3067\u3001\u8133\u306e\u795e\u7d4c\u7d30\u80de\u306e\u907a\u4f1d\u5b50\u767a\u73fe\u3092\u8abf\u7bc0\u3057\u3066\u3044\u307e\u3059\u3002\u3053\u306e\u907a\u4f1d\u5b50\u306e\u5909\u7570\u3084\u6b20\u5931\u306f\u3001\u77e5\u7684\u969c\u5bb3\u3084\u7279\u5fb4\u7684\u306a\u9854\u8c8c\u3092\u5f15\u304d\u8d77\u3053\u3059\u3053\u3068\u304c\u77e5\u3089\u308c\u3066\u3044\u307e\u3059\uff08SETD5\u95a2\u9023\u969c\u5bb3\uff09\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>BRPF1 (Bromodomain And PHD Finger Containing 1):<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u30d2\u30b9\u30c8\u30f3\u30a2\u30bb\u30c1\u30eb\u5316\u306b\u95a2\u308f\u308a\u3001\u8133\u306e\u767a\u9054\u3092\u5236\u5fa1\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u3053\u306e\u907a\u4f1d\u5b50\u306e\u6b20\u5931\u3082\u3001\u77e5\u7684\u969c\u5bb3\u3001\u773c\u77bc\u4e0b\u5782\u3001\u767a\u9054\u9045\u6ede\u306e\u539f\u56e0\u3068\u306a\u308a\u307e\u3059\uff08BRPF1\u95a2\u9023\u969c\u5bb3\uff09\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>VHL (Von Hippel-Lindau Tumor Suppressor):<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u5f37\u529b\u306a<strong>\u304c\u3093\u6291\u5236\u907a\u4f1d\u5b50<\/strong>\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u901a\u5e382\u3064\u3042\u308b\u907a\u4f1d\u5b50\u306e\u3046\u30611\u3064\u304c\u5931\u308f\u308c\u308b\u3068\u3001\u6b8b\u308a\u306e1\u3064\u306b\u5909\u7570\u304c\u8d77\u304d\u305f\u969b\uff08Two-hit theory\uff09\u306b\u3001\u7d30\u80de\u5897\u6b96\u306e\u30d6\u30ec\u30fc\u30ad\u304c\u52b9\u304b\u306a\u304f\u306a\u308a\u3001\u7279\u5b9a\u306e\u816b\u760d\u304c\u3067\u304d\u3084\u3059\u304f\u306a\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>ATP2B2:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u30ab\u30eb\u30b7\u30a6\u30e0\u30dd\u30f3\u30d7\u306b\u95a2\u308f\u308b\u907a\u4f1d\u5b50\u3067\u3001\u6b20\u5931\u3059\u308b\u3068\u96e3\u8074\u306e\u30ea\u30b9\u30af\u304c\u9ad8\u307e\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>SRGAP3:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u795e\u7d4c\u56de\u8def\u306e\u5f62\u6210\u306b\u95a2\u308f\u308a\u3001\u91cd\u5ea6\u306e\u77e5\u7684\u969c\u5bb3\u3084\u7b4b\u7dca\u5f35\u4f4e\u4e0b\u306b\u95a2\u9023\u3059\u308b\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u767a\u751f\u6a5f\u5e8f<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>De novo\uff08\u65b0\u751f\u7a81\u7136\u5909\u7570\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>3p25.3\u6b20\u5931\u75c7\u5019\u7fa4\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\u3067\u5076\u7136\u751f\u3058\u305f\u7a81\u7136\u5909\u7570\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u4e21\u89aa\u306e\u67d3\u8272\u4f53\u306f\u6b63\u5e38\u3067\u3042\u308a\u3001\u6b21\u5b50\u3078\u306e\u518d\u767a\u30ea\u30b9\u30af\u306f\u4f4e\u3044\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u5bb6\u65cf\u6027\uff08\u89aa\u306e\u8ee2\u5ea7\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u89aa\u304c\u300c\u5747\u8861\u578b\u8ee2\u5ea7\uff08\u5834\u6240\u304c\u5165\u308c\u66ff\u308f\u3063\u3066\u3044\u308b\uff09\u300d\u3084\u300c\u9006\u4f4d\u300d\u306a\u3069\u306e\u69cb\u9020\u7570\u5e38\u3092\u6301\u3063\u3066\u3044\u308b\u5834\u5408\u3001\u5b50\u306b\u4e0d\u5747\u8861\u306a\u6b20\u5931\u304c\u751f\u3058\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u89aa\u304c\u540c\u3058\u5fae\u7d30\u6b20\u5931\u3092\u6301\u3063\u3066\u3044\u308b\uff08\u5bb6\u65cf\u6027\uff09\u30b1\u30fc\u30b9\u306f\u7a00\u3067\u3059\u304c\u3001\u8868\u73fe\u578b\u304c\u30de\u30a4\u30eb\u30c9\u306a\u5834\u5408\u306f\u3042\u308a\u5f97\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>\u7279\u5fb4\u7684\u306a\u9854\u8c8c\uff08\u773c\u77bc\u4e0b\u5782\u306a\u3069\uff09\u3084\u767a\u9054\u9045\u6ede\u304b\u3089\u7591\u308f\u308c\u307e\u3059\u304c\u3001\u78ba\u5b9a\u8a3a\u65ad\u306b\u306f\u907a\u4f1d\u5b66\u7684\u691c\u67fb\u304c\u5fc5\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u67d3\u8272\u4f53\u691c\u67fb\uff08CMA\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u672c\u75c7\u5019\u7fa4\u306e\u8a3a\u65ad\u306b\u304a\u3051\u308b**\u30b4\u30fc\u30eb\u30c9\u30b9\u30bf\u30f3\u30c0\u30fc\u30c9\uff08\u7b2c\u4e00\u9078\u629e\uff09**\u306e\u691c\u67fb\u3067\u3059\u3002<\/li>\n\n\n\n<li>3p25.3\u9818\u57df\u306e\u5fae\u7d30\u306a\u6b20\u5931\u3092\u691c\u51fa\u3057\u3001\u305d\u306e\u6b63\u78ba\u306a\u30b5\u30a4\u30ba\u3068\u3001<strong>\u7279\u306bVHL\u907a\u4f1d\u5b50\u304c\u542b\u307e\u308c\u3066\u3044\u308b\u304b<\/strong>\u3092\u7279\u5b9a\u3067\u304d\u307e\u3059\u3002<\/li>\n\n\n\n<li><em>VHL<\/em>\u304c\u542b\u307e\u308c\u3066\u3044\u308b\u304b\u5426\u304b\u306f\u3001\u305d\u306e\u5f8c\u306e\u4eba\u751f\u306b\u304a\u3051\u308b\u691c\u8a3a\u30d7\u30e9\u30f3\uff08\u30b5\u30fc\u30d9\u30a4\u30e9\u30f3\u30b9\uff09\u3092\u5927\u304d\u304f\u5de6\u53f3\u3059\u308b\u305f\u3081\u3001\u6975\u3081\u3066\u91cd\u8981\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>FISH\u6cd5\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>3p\u672b\u7aef\u6b20\u5931\uff083p-\uff09\u3092\u7591\u3046\u5834\u5408\u306b\u884c\u308f\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u5fae\u7d30\u306a\u4e2d\u9593\u6b20\u5931\u306f\u898b\u9003\u3059\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u4e21\u89aa\u306e\u67d3\u8272\u4f53\u691c\u67fb\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u6b20\u5931\u304c\u78ba\u8a8d\u3055\u308c\u305f\u5f8c\u3001\u4e21\u89aa\u306e\u691c\u67fb\u3092\u884c\u3044\u3001\u8ee2\u5ea7\u306a\u3069\u306e\u69cb\u9020\u7570\u5e38\u304c\u306a\u3044\u304b\u3092\u78ba\u8a8d\u3057\u307e\u3059\u3002\u3053\u308c\u306b\u3088\u308a\u6b21\u5b50\u306e\u30ea\u30b9\u30af\u8a55\u4fa1\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>\u6b20\u5931\u3057\u305f\u67d3\u8272\u4f53\u3092\u4fee\u5fa9\u3059\u308b\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\u3001\u767a\u9054\u3092\u4fc3\u3059\u7642\u80b2\u3001\u305d\u3057\u3066VHL\u907a\u4f1d\u5b50\u6b20\u5931\u4f8b\u306b\u5bfe\u3059\u308b**\u53b3\u91cd\u306a\u30b5\u30fc\u30d9\u30a4\u30e9\u30f3\u30b9\uff08\u5b9a\u671f\u691c\u67fb\uff09**\u304c\u67f1\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u816b\u760d\u30b5\u30fc\u30d9\u30a4\u30e9\u30f3\u30b9\uff08VHL\u907a\u4f1d\u5b50\u6b20\u5931\u4f8b\uff09<\/strong><\/p>\n\n\n\n<p>\u3082\u3057<em>VHL<\/em>\u907a\u4f1d\u5b50\u304c\u6b20\u5931\u306b\u542b\u307e\u308c\u3066\u3044\u308b\u5834\u5408\u3001\u75c7\u72b6\u304c\u306a\u304f\u3066\u3082\u4ee5\u4e0b\u306e\u5b9a\u671f\u691c\u67fb\u304c\u63a8\u5968\u3055\u308c\u307e\u3059\uff08VHL\u75c5\u306e\u30ac\u30a4\u30c9\u30e9\u30a4\u30f3\u306b\u6e96\u305a\u308b\uff09\u3002\u65e9\u671f\u767a\u898b\u30fb\u65e9\u671f\u6cbb\u7642\u304c\u751f\u547d\u4e88\u5f8c\u3092\u6539\u5584\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u773c\u79d1\u691c\u67fb:<\/strong> \u7db2\u819c\u8840\u7ba1\u82bd\u816b\u306e\u30c1\u30a7\u30c3\u30af\uff08\u5e7c\u5150\u671f\u304b\u3089\uff09\u3002<\/li>\n\n\n\n<li><strong>\u8179\u90e8\u8d85\u97f3\u6ce2\/MRI:<\/strong> \u814e\u81d3\u3084\u526f\u814e\u3001\u81b5\u81d3\u306e\u816b\u760d\u30c1\u30a7\u30c3\u30af\uff08\u5c0f\u5150\u671f\u301c\u6210\u4eba\u671f\uff09\u3002<\/li>\n\n\n\n<li><strong>\u982d\u90e8\u30fb\u810a\u9ac4MRI:<\/strong> \u4e2d\u67a2\u795e\u7d4c\u7cfb\u306e\u8840\u7ba1\u82bd\u816b\u30c1\u30a7\u30c3\u30af\uff08\u601d\u6625\u671f\u4ee5\u964d\u306a\u3069\uff09\u3002<\/li>\n\n\n\n<li><strong>\u8840\u5727\u6e2c\u5b9a\u30fb\u8840\u6db2\u691c\u67fb:<\/strong> \u8910\u8272\u7d30\u80de\u816b\u306e\u5146\u5019\u304c\u306a\u3044\u304b\u78ba\u8a8d\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u767a\u9054\u30fb\u7642\u80b2\u7684\u652f\u63f4<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u65e9\u671f\u7642\u80b2:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u7b4b\u7dca\u5f35\u4f4e\u4e0b\u3084\u767a\u9054\u9045\u6ede\u306b\u5bfe\u3057\u3001\u7406\u5b66\u7642\u6cd5\uff08PT\uff09\u3001\u4f5c\u696d\u7642\u6cd5\uff08OT\uff09\u3001\u8a00\u8a9e\u8074\u899a\u7642\u6cd5\uff08ST\uff09\u3092\u65e9\u671f\u304b\u3089\u958b\u59cb\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u773c\u77bc\u4e0b\u5782\u3078\u306e\u5bfe\u5fdc:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u307e\u3076\u305f\u304c\u4e0b\u304c\u3063\u3066\u8996\u754c\u3092\u906e\u308b\u5834\u5408\u3001\u8996\u529b\u767a\u9054\uff08\u5f31\u8996\u4e88\u9632\uff09\u306e\u305f\u3081\u306b\u624b\u8853\u3092\u884c\u3046\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u8a00\u8a9e\u8074\u899a\u7642\u6cd5\uff08ST\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8a00\u8449\u306e\u9045\u308c\u306b\u5bfe\u3057\u3001\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u6307\u5c0e\u3084AAC\uff08\u88dc\u52a9\u4ee3\u66ff\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\uff09\u306e\u5c0e\u5165\u3092\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>\u7279\u5225\u652f\u63f4\u6559\u80b2\u3092\u542b\u3081\u3001\u304a\u5b50\u3055\u3093\u306e\u767a\u9054\u6bb5\u968e\u306b\u5408\u308f\u305b\u305f\u5b66\u7fd2\u74b0\u5883\u3092\u6574\u3048\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u5408\u4f75\u75c7\u7ba1\u7406<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5fc3\u75be\u60a3:<\/strong> \u5b9a\u671f\u7684\u306a\u7d4c\u904e\u89b3\u5bdf\u3084\u3001\u5fc5\u8981\u306b\u5fdc\u3058\u305f\u624b\u8853\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u8074\u899a:<\/strong> \u96e3\u8074\u304c\u3042\u308b\u5834\u5408\u3001\u88dc\u8074\u5668\u306e\u4f7f\u7528\u3084\u8074\u899a\u6d3b\u7528\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6804\u990a:<\/strong> \u54fa\u4e73\u56f0\u96e3\u3084\u6210\u9577\u969c\u5bb3\u306b\u5bfe\u3057\u3001\u6804\u990a\u6307\u5c0e\u3084\u7d4c\u7ba1\u6804\u990a\u306b\u3088\u308b\u30b5\u30dd\u30fc\u30c8\u3092\u884c\u3044\u307e\u3059\u3002<\/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> \u300c3p-\u75c7\u5019\u7fa4\u300d\u3068\u3044\u3046\u53e4\u3044\u75c5\u540d\u3068\u3001\u300c3p25.3\u6b20\u5931\u300d\u3068\u3044\u3046\u8a73\u7d30\u306a\u8a3a\u65ad\u3067\u306f\u3001\u60c5\u5831\u306e\u7cbe\u5ea6\u304c\u7570\u306a\u308a\u307e\u3059\u3002\u7279\u306b<em>VHL<\/em>\u907a\u4f1d\u5b50\u306e\u6709\u7121\u306b\u3088\u308b\u30ea\u30b9\u30af\u306e\u9055\u3044\u306b\u3064\u3044\u3066\u3001\u5c02\u9580\u5bb6\u304b\u3089\u6b63\u78ba\u306a\u8aac\u660e\u3092\u53d7\u3051\u308b\u3053\u3068\u304c\u5927\u5207\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5bb6\u65cf\u652f\u63f4:<\/strong> \u5c06\u6765\u306e\u816b\u760d\u30ea\u30b9\u30af\u306b\u5bfe\u3059\u308b\u4e0d\u5b89\uff08VHL\u95a2\u9023\uff09\u306f\u5927\u304d\u3044\u305f\u3081\u3001\u5fc3\u7406\u7684\u306a\u30b5\u30dd\u30fc\u30c8\u3092\u542b\u3081\u305f\u7d99\u7d9a\u7684\u306a\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u304c\u5fc5\u8981\u3067\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>3p25.3 deletion syndrome\u306f\u30013\u756a\u67d3\u8272\u4f53\u306e\u5148\u7aef\u8fd1\u304f\u306e\u4e00\u90e8\u304c\u6b20\u3051\u308b\u3053\u3068\u3067\u8d77\u3053\u308b\u5e0c\u5c11\u306a\u75be\u60a3\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u75be\u60a3\u306e\u304a\u5b50\u3055\u3093\u306f\u3001\u307e\u3076\u305f\u304c\u4e0b\u304c\u3063\u3066\u3044\u308b\uff08\u773c\u77bc\u4e0b\u5782\uff09\u306a\u3069\u306e\u611b\u3089\u3057\u3044\u7279\u5fb4\u7684\u306a\u304a\u9854\u7acb\u3061\u3084\u3001\u5c0f\u67c4\u306a\u4f53\u683c\u3001\u305d\u3057\u3066\u3086\u3063\u304f\u308a\u3068\u3057\u305f\u767a\u9054\u306e\u30da\u30fc\u30b9\u3092\u6301\u3063\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3054\u5bb6\u65cf\u306b\u3068\u3063\u3066\u3001\u767a\u9054\u306e\u9045\u308c\u306f\u5fc3\u914d\u306a\u8981\u7d20\u304b\u3068\u601d\u3044\u307e\u3059\u304c\u3001\u591a\u304f\u306e\u304a\u5b50\u3055\u3093\u306f\u660e\u308b\u304f\u3001\u7642\u80b2\u3092\u901a\u3058\u3066\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u80fd\u529b\u3092\u4f38\u3070\u3057\u3066\u3044\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u75c5\u6c17\u3067\u533b\u5b66\u7684\u306b\u6700\u3082\u91cd\u8981\u306a\u30dd\u30a4\u30f3\u30c8\u306f\u3001\u6b20\u5931\u3057\u305f\u90e8\u5206\u306b**\u300cVHL\u907a\u4f1d\u5b50\u300d\u304c\u542b\u307e\u308c\u3066\u3044\u308b\u304b\u3069\u3046\u304b**\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3082\u3057\u542b\u307e\u308c\u3066\u3044\u308b\u5834\u5408\u306f\u3001\u5c06\u6765\u7684\u306a\u816b\u760d\u306e\u30ea\u30b9\u30af\u306b\u5099\u3048\u3066\u3001\u5b9a\u671f\u7684\u306b\u773c\u79d1\u3084\u8d85\u97f3\u6ce2\u306e\u691c\u67fb\u3092\u53d7\u3051\u308b\u5fc5\u8981\u304c\u3042\u308a\u307e\u3059\u3002\u300c\u75c5\u6c17\u306b\u306a\u308b\u304b\u3082\u3057\u308c\u306a\u3044\u300d\u3068\u805e\u304f\u3068\u6016\u3044\u304b\u3082\u3057\u308c\u307e\u305b\u3093\u304c\u3001\u3053\u308c\u306f\u9006\u306b\u8a00\u3048\u3070\u300c\u5b9a\u671f\u691c\u8a3a\u3055\u3048\u53d7\u3051\u3066\u3044\u308c\u3070\u3001\u4f55\u304b\u3042\u3063\u3066\u3082\u65e9\u671f\u306b\u898b\u3064\u3051\u3066\u5b8c\u5168\u306b\u6cbb\u305b\u308b\u300d\u3068\u3044\u3046\u3001\u5f37\u529b\u306a\u6b66\u5668\u3092\u6301\u3063\u3066\u3044\u308b\u3053\u3068\u3068\u540c\u3058\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u691c\u67fb\u306e\u30b9\u30b1\u30b8\u30e5\u30fc\u30eb\u3055\u3048\u5b88\u308c\u3070\u3001\u904e\u5ea6\u306b\u6050\u308c\u308b\u5fc5\u8981\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u773c\u77bc\u4e0b\u5782\u306e\u624b\u8853\u3084\u3001\u88dc\u8074\u5668\u306e\u4f7f\u7528\u3001\u5fc3\u81d3\u306e\u30b1\u30a2\u306a\u3069\u3001\u305d\u308c\u305e\u308c\u306e\u75c7\u72b6\u306b\u306f\u5c02\u9580\u306e\u6cbb\u7642\u6cd5\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u533b\u5e2b\u3001\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30e9\u30fc\u3001\u7642\u80b2\u30b9\u30bf\u30c3\u30d5\u3068\u30c1\u30fc\u30e0\u3092\u7d44\u307f\u3001\u5b9a\u671f\u691c\u8a3a\u3092\u30da\u30fc\u30b9\u30e1\u30fc\u30ab\u30fc\u306b\u3057\u3066\u3001\u304a\u5b50\u3055\u3093\u306e\u5065\u3084\u304b\u306a\u6210\u9577\u3092\u898b\u5b88\u3063\u3066\u3044\u304d\u307e\u3057\u3087\u3046\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u53c2\u8003\u6587\u732e<\/strong><\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>Kellogg, G., et al.<\/strong> (2013). <em>Distinct phenotypes associated with deletions of 3p25.3 versus 3p26.<\/em> American Journal of Medical Genetics Part A.\n<ul class=\"wp-block-list\">\n<li>(\u203b3p\u672b\u7aef\u6b20\u5931\uff083p26\uff09\u3068\u4e2d\u9593\u6b20\u5931\uff083p25.3\uff09\u306e\u81e8\u5e8a\u50cf\u3092\u6bd4\u8f03\u3057\u30013p25.3\u6b20\u5931\u7279\u6709\u306e\u75c7\u72b6\uff08SETD5\u3084BRPF1\u95a2\u9023\u306e\u77e5\u7684\u969c\u5bb3\u306a\u3069\uff09\u3092\u660e\u78ba\u306b\u3057\u305f\u91cd\u8981\u8ad6\u6587\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Kuechler, A., et al.<\/strong> (2015). <em>De novo mutations in SETD5 cause a recognizable neurodevelopmental syndrome.<\/em> Nature Genetics.\n<ul class=\"wp-block-list\">\n<li>(\u203b3p25.3\u9818\u57df\u306b\u542b\u307e\u308c\u308bSETD5\u907a\u4f1d\u5b50\u306e\u5358\u72ec\u5909\u7570\u304c\u30013p\u6b20\u5931\u75c7\u5019\u7fa4\u306e\u4e3b\u8981\u306a\u75c7\u72b6\uff08\u77e5\u7684\u969c\u5bb3\u3001\u9854\u8c8c\uff09\u3092\u5f15\u304d\u8d77\u3053\u3059\u3053\u3068\u3092\u8a3c\u660e\u3057\u305f\u7814\u7a76\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Yan, H., et al.<\/strong> (2017). <em>BRPF1 mutations are associated with a recognizable developmental disorder with intellectual disability, speech delay, ptosis, and facial dysmorphism.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203b3p25.3\u9818\u57df\u306e\u3082\u3046\u4e00\u3064\u306e\u91cd\u8981\u907a\u4f1d\u5b50BRPF1\u306e\u6a5f\u80fd\u55aa\u5931\u304c\u3001\u773c\u77bc\u4e0b\u5782\u3084\u8a00\u8a9e\u969c\u5bb3\u306a\u3069\u306e3p-\u69d8\u75c7\u72b6\u306e\u539f\u56e0\u3067\u3042\u308b\u3053\u3068\u3092\u7279\u5b9a\u3057\u305f\u6587\u732e\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Maher, E.R., et al.<\/strong> (2011). <em>Von Hippel-Lindau Disease: A Clinical and Scientific Review.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203bVHL\u75c5\u306e\u5305\u62ec\u7684\u306a\u30ec\u30d3\u30e5\u30fc\u30023p\u6b20\u5931\u306b\u3088\u308bVHL\u907a\u4f1d\u5b50\u6b20\u5931\u4f8b\u306b\u304a\u3051\u308b\u816b\u760d\u30ea\u30b9\u30af\u3068\u30b5\u30fc\u30d9\u30a4\u30e9\u30f3\u30b9\u306e\u91cd\u8981\u6027\u306b\u3064\u3044\u3066\u8a00\u53ca\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Unique (Rare Chromosome Disorder Support Group)<\/strong>: <em>3p deletions<\/em> (2019).\n<ul class=\"wp-block-list\">\n<li>(\u203b\u60a3\u8005\u5bb6\u65cf\u5411\u3051\u306b\u30013p\u6b20\u5931\uff083p-\u75c7\u5019\u7fa4\uff09\u5168\u822c\u306e\u75c7\u72b6\u3001\u767a\u9054\u306e\u7d4c\u904e\u3001VHL\u907a\u4f1d\u5b50\u6b20\u5931\u6642\u306e\u5bfe\u5fdc\u306a\u3069\u3092\u5e73\u6613\u306b\u307e\u3068\u3081\u305f\u30ac\u30a4\u30c9\u30d6\u30c3\u30af\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>ClinGen Dosage Sensitivity Curation<\/strong>: <em>VHL<\/em>, <em>SETD5<\/em>, <em>BRPF1<\/em>.\n<ul class=\"wp-block-list\">\n<li>(\u203b\u5404\u907a\u4f1d\u5b50\u306e\u30cf\u30d7\u30ed\u4e0d\u5168\uff08\u6b20\u5931\uff09\u304c\u75be\u60a3\u3092\u5f15\u304d\u8d77\u3053\u3059\u3053\u3068\u306e\u79d1\u5b66\u7684\u6839\u62e0\u8a55\u4fa1\u3002VHL\u306e\u6b20\u5931\u306f\u816b\u760d\u30ea\u30b9\u30af\u3068\u95a2\u9023\u3057\u3001SETD5\/BRPF1\u306f\u795e\u7d4c\u767a\u9054\u969c\u5bb3\u3068\u95a2\u9023\u3059\u308b\u3053\u3068\u304c\u652f\u6301\u3055\u308c\u3066\u3044\u308b\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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