{"id":16858,"date":"2026-01-20T07:12:32","date_gmt":"2026-01-20T07:12:32","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/gene\/?post_type=genetic-screening&#038;p=16858"},"modified":"2026-01-20T07:15:43","modified_gmt":"2026-01-20T07:15:43","slug":"19q13-11-microdeletion-syndrome","status":"publish","type":"genetic-screening","link":"https:\/\/www.hiro-clinic.or.jp\/gene\/genetic-screening\/19q13-11-microdeletion-syndrome\/","title":{"rendered":"19q13.11 microdeletion syndrome"},"content":{"rendered":"\n<h2 class=\"wp-block-heading\"><strong>\u5225\u540d\u30fb\u95a2\u9023\u75be\u60a3\u540d<\/strong><\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li>19q13.11\u5fae\u7d30\u6b20\u5931\u75c7\u5019\u7fa4<\/li>\n\n\n\n<li>19q13.11\u6b20\u5931\u75c7\u5019\u7fa4\uff0819q13.11 deletion syndrome\uff09<\/li>\n\n\n\n<li>19q13.11\u30e2\u30ce\u30bd\u30df\u30fc\uff08Monosomy 19q13.11\uff09<\/li>\n\n\n\n<li>UBA2\u95a2\u9023\u6b20\u5931\u75c7\u5019\u7fa4\uff08UBA2-related deletion syndrome\uff09<\/li>\n\n\n\n<li>\u95a2\u9023\uff1a\u5148\u5929\u6027\u982d\u76ae\u6b20\u640d\uff08Aplasia cutis congenita; ACC\uff09<\/li>\n\n\n\n<li>\u95a2\u9023\uff1a\u5916\u80da\u8449\u5f62\u6210\u4e0d\u5168\uff08Ectodermal dysplasia\uff09<\/li>\n\n\n\n<li>\u95a2\u9023\uff1a19\u756a\u67d3\u8272\u4f53\u9577\u8155\u90e8\u5206\u6b20\u5931\uff08Partial deletion of chromosome 19q\uff09<\/li>\n<\/ul>\n\n\n\n<p>\u203b\u75be\u60a3\u306e\u6982\u5ff5\u306b\u3064\u3044\u3066\uff1a<\/p>\n\n\n\n<p>19q13.11\u9818\u57df\u306e\u6b20\u5931\u306f\u3001\u6b74\u53f2\u7684\u306b\u306f\u5358\u306a\u308b\u300c19\u756a\u67d3\u8272\u4f53\u6b20\u5931\u300d\u306e\u4e00\u90e8\u3068\u3057\u3066\u6271\u308f\u308c\u3066\u304d\u307e\u3057\u305f\u304c\u3001\u8fd1\u5e74\u306e\u89e3\u6790\u306b\u3088\u308a\u3001\u3053\u306e\u72ed\u3044\u9818\u57df\u306b\u542b\u307e\u308c\u308bUBA2\u907a\u4f1d\u5b50\u306a\u3069\u306e\u6b20\u5931\u304c\u3001\u7279\u5fb4\u7684\u306a\u75c7\u72b6\uff08\u982d\u306e\u76ae\u819a\u304c\u306a\u3044\u3001\u9aea\u304c\u8584\u3044\u3001\u4f53\u304c\u5c0f\u3055\u3044\u306a\u3069\uff09\u3092\u5f15\u304d\u8d77\u3053\u3059\u72ec\u7acb\u3057\u305f\u81e8\u5e8a\u5358\u4f4d\u3067\u3042\u308b\u3053\u3068\u304c\u78ba\u7acb\u3055\u308c\u307e\u3057\u305f\u3002\u672c\u8a18\u4e8b\u3067\u306f\u3001\u3053\u306e\u6700\u65b0\u306e\u5b9a\u7fa9\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>19\u756a\u67d3\u8272\u4f53 \u9577\u8155\uff08q\uff0913.11\u9818\u57df<\/strong><\/p>\n\n\n\n<p>\u672c\u75be\u60a3\u306f\u3001\u30d2\u30c8\u306e19\u756a\u67d3\u8272\u4f53\u306e\u9577\u8155\u306b\u3042\u308b\u300c13.11\u300d\u3068\u547c\u3070\u308c\u308b\u30d0\u30f3\u30c9\u9818\u57df\u306b\u304a\u3044\u3066\u3001DNA\u914d\u5217\u306e\u4e00\u90e8\u304c\u6b20\u5931\u3059\u308b\u3053\u3068\uff08\u30b3\u30d4\u30fc\u6570\u304c1\u3064\u306b\u306a\u308b\uff1a\u30cf\u30d7\u30ed\u4e0d\u5168\uff09\u306b\u3088\u3063\u3066\u751f\u3058\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3010\u30b2\u30ce\u30e0\u4e0a\u306e\u8a73\u7d30\u3068\u91cd\u8981\u907a\u4f1d\u5b50\u3011<\/p>\n\n\n\n<p>19\u756a\u67d3\u8272\u4f53\u306f\u907a\u4f1d\u5b50\u5bc6\u5ea6\u304c\u975e\u5e38\u306b\u9ad8\u3044\u67d3\u8272\u4f53\u3067\u3059\u3002\u3053\u306e19q13.11\u9818\u57df\u306b\u306f\u8907\u6570\u306e\u907a\u4f1d\u5b50\u304c\u542b\u307e\u308c\u3066\u3044\u307e\u3059\u304c\u3001\u672c\u75c7\u5019\u7fa4\u306e\u75c7\u72b6\u5f62\u6210\u306b\u304a\u3044\u3066\u6c7a\u5b9a\u7684\u306a\u5f79\u5272\u3092\u679c\u305f\u3057\u3066\u3044\u308b\u306e\u306f\u3001\u4ee5\u4e0b\u306e\u907a\u4f1d\u5b50\u3067\u3042\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>UBA2 (Ubiquitin Like Modifier Activating Enzyme 2):<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>\u6700\u91cd\u8981\u306e\u8cac\u4efb\u907a\u4f1d\u5b50<\/strong>\u3067\u3059\u3002<\/li>\n\n\n\n<li>UBA2\u30bf\u30f3\u30d1\u30af\u8cea\u306f\u3001\u300cSUMO\u5316\uff08\u30b9\u30e2\u5316\uff09\u300d\u3068\u547c\u3070\u308c\u308b\u30bf\u30f3\u30d1\u30af\u8cea\u306e\u4fee\u98fe\u30d7\u30ed\u30bb\u30b9\u306b\u95a2\u308f\u308b\u9175\u7d20\u3067\u3059\u3002\u3053\u308c\u306f\u3001\u7d30\u80de\u5206\u88c2\u3084DNA\u4fee\u5fa9\u3001\u907a\u4f1d\u5b50\u767a\u73fe\u306e\u5236\u5fa1\u306a\u3069\u3001\u7d30\u80de\u306e\u57fa\u672c\u7684\u306a\u6d3b\u52d5\u306b\u4e0d\u53ef\u6b20\u306a\u30b7\u30b9\u30c6\u30e0\u3067\u3059\u3002<\/li>\n\n\n\n<li><em>UBA2<\/em>\u907a\u4f1d\u5b50\u304c\u6b20\u5931\u3057\u3066\u6a5f\u80fd\u304c\u534a\u5206\u306b\u306a\u308b\u3068\u3001\u7279\u306b\u76ae\u819a\u3001\u6bdb\u9aea\u3001\u8133\u3001\u9aa8\u683c\u306e\u6210\u9577\u306b\u5fc5\u8981\u306a\u30b7\u30b0\u30ca\u30eb\u304c\u3046\u307e\u304f\u4f1d\u308f\u3089\u306a\u304f\u306a\u308a\u3001\u672c\u75c7\u5019\u7fa4\u306e\u7279\u5fb4\u7684\u306a\u75c7\u72b6\uff08\u5916\u80da\u8449\u5f62\u6210\u4e0d\u5168\u3084\u5c0f\u982d\u75c7\uff09\u304c\u5f15\u304d\u8d77\u3053\u3055\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>WTIP (Wilms Tumor 1 Interacting Protein):<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u814e\u81d3\u3084\u6ccc\u5c3f\u751f\u6b96\u5668\u306e\u767a\u751f\u306b\u95a2\u308f\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u308b\u907a\u4f1d\u5b50\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u3053\u306e\u907a\u4f1d\u5b50\u306e\u6b20\u5931\u306f\u3001\u7537\u6027\u60a3\u8005\u306b\u898b\u3089\u308c\u308b\u300c\u5c3f\u9053\u4e0b\u88c2\u300d\u306a\u3069\u306e\u6027\u5668\u5f62\u6210\u7570\u5e38\u306b\u95a2\u4e0e\u3057\u3066\u3044\u308b\u53ef\u80fd\u6027\u304c\u793a\u5506\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p>\u6b20\u5931\u306e\u30b5\u30a4\u30ba\u306f\u60a3\u8005\u3055\u3093\u306b\u3088\u3063\u3066\u7570\u306a\u308a\uff08\u5178\u578b\u7684\u306b\u306f\u6570\u767ekb\u301c\u6570Mb\uff09\u3001\u6b20\u5931\u7bc4\u56f2\u306b\u542b\u307e\u308c\u308b\u907a\u4f1d\u5b50\u306e\u6570\u306b\u3088\u3063\u3066\u75c7\u72b6\u306e\u91cd\u75c7\u5ea6\u304c\u5909\u308f\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\uff08\u96a3\u63a5\u907a\u4f1d\u5b50\u75c7\u5019\u7fa4\uff09\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>\u6b63\u78ba\u306a\u767a\u751f\u983b\u5ea6\u306f\u78ba\u7acb\u3055\u308c\u3066\u3044\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>19q13.11\u5fae\u7d30\u6b20\u5931\u75c7\u5019\u7fa4\u3068\u3057\u3066\u533b\u5b66\u6587\u732e\u306b\u8a73\u7d30\u306b\u5831\u544a\u3055\u308c\u3066\u3044\u308b\u75c7\u4f8b\u306f\u3001\u4e16\u754c\u3067\u3082\u6570\u5341\u4f8b\u7a0b\u5ea6\u306b\u3068\u3069\u307e\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3057\u304b\u3057\u3001\u3053\u308c\u306f\u300c\u7a00\u3060\u304b\u3089\u300d\u3068\u3044\u3046\u7406\u7531\u3060\u3051\u3067\u306a\u304f\u3001\u4ee5\u4e0b\u306e\u7406\u7531\u306b\u3088\u308b\u300c\u904e\u5c11\u8a3a\u65ad\uff08Underdiagnosis\uff09\u300d\u306e\u5f71\u97ff\u304c\u5927\u304d\u3044\u3068\u8003\u3048\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<ol class=\"wp-block-list\">\n<li><strong>\u8a3a\u65ad\u306e\u96e3\u3057\u3055:<\/strong> \u4e00\u822c\u7684\u306a\u67d3\u8272\u4f53\u691c\u67fb\uff08G\u30d0\u30f3\u30c9\u6cd5\uff09\u3067\u306f\u3001\u3053\u306e\u9818\u57df\u306e\u5fae\u7d30\u306a\u6b20\u5931\u306f\u898b\u9003\u3055\u308c\u308b\u3053\u3068\u304c\u591a\u304f\u3001\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u691c\u67fb\uff08CMA\uff09\u3092\u884c\u308f\u306a\u3044\u3068\u8a3a\u65ad\u3067\u304d\u307e\u305b\u3093\u3002<\/li>\n\n\n\n<li><strong>\u75c7\u72b6\u306e\u591a\u69d8\u6027:<\/strong> \u75c7\u72b6\u304c\u8efd\u5ea6\uff08\u8efd\u5ea6\u306e\u4f4e\u8eab\u9577\u306e\u307f\u306a\u3069\uff09\u306e\u5834\u5408\u3001\u907a\u4f1d\u5b50\u691c\u67fb\u307e\u3067\u81f3\u3089\u305a\u306b\u904e\u3054\u3057\u3066\u3044\u308b\u65b9\u304c\u4e00\u5b9a\u6570\u5b58\u5728\u3059\u308b\u3068\u63a8\u6e2c\u3055\u308c\u307e\u3059\u3002<\/li>\n<\/ol>\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>19q13.11 microdeletion syndrome\u306e\u75c7\u72b6\u306f\u3001**\u300c\u6210\u9577\u969c\u5bb3\u300d\u300c\u5916\u80da\u8449\uff08\u76ae\u819a\u30fb\u9aea\uff09\u306e\u7570\u5e38\u300d\u300c\u795e\u7d4c\u767a\u9054\u306e\u9045\u308c\u300d**\u306e3\u3064\u304c\u4e2d\u6838\u7684\u306a\u7279\u5fb4\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u7279\u306b\u3001\u51fa\u751f\u6642\u306b\u300c\u982d\u306e\u3066\u3063\u307a\u3093\u306e\u76ae\u819a\u304c\u306a\u3044\uff08\u5148\u5929\u6027\u982d\u76ae\u6b20\u640d\uff09\u300d\u3068\u3044\u3046\u75c7\u72b6\u304c\u898b\u3089\u308c\u308b\u5834\u5408\u3001\u3053\u306e\u75be\u60a3\u3092\u5f37\u304f\u7591\u3046\u304d\u3063\u304b\u3051\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u6210\u9577\u30fb\u9aa8\u683c\u7570\u5e38\uff08Growth &amp; Skeletal\uff09<\/strong><\/p>\n\n\n\n<p>\u51fa\u751f\u524d\u304b\u3089\u51fa\u751f\u5f8c\u306b\u304b\u3051\u3066\u3001\u5168\u4f53\u7684\u306b\u5c0f\u67c4\u306a\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5b50\u5bae\u5185\u767a\u80b2\u4e0d\u5168\uff08IUGR\uff09:<\/strong> \u598a\u5a20\u4e2d\u304b\u3089\u80ce\u5150\u306e\u4f53\u91cd\u304c\u5897\u3048\u306b\u304f\u304f\u3001\u5c0f\u3055\u304f\u751f\u307e\u308c\u308b\uff08SGA\uff09\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u4f4e\u8eab\u9577\uff08Short stature\uff09:<\/strong> \u51fa\u751f\u5f8c\u3082\u8eab\u9577\u30fb\u4f53\u91cd\u306e\u4f38\u3073\u304c\u7de9\u3084\u304b\u3067\u3001\u6210\u9577\u66f2\u7dda\u306e\u4e0b\u9650\u3092\u4e0b\u56de\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u624b\u8db3\u306e\u7279\u5fb4:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u624b\u8db3\u304c\u5c0f\u3055\u3044\uff08Small hands and feet\uff09\u3002<\/li>\n\n\n\n<li>\u6307\u304c\u77ed\u3044\uff08\u77ed\u6307\u75c7\uff09\u3001\u307e\u305f\u306f\u7d30\u9577\u3044\u3002<\/li>\n\n\n\n<li>\u7b2c5\u6307\uff08\u5c0f\u6307\uff09\u306e\u77ed\u7e2e\u3084\u6e7e\u66f2\u3002<\/li>\n\n\n\n<li>\u5408\u6307\u75c7\uff08\u6307\u306e\u9593\u304c\u819c\u3067\u3064\u306a\u304c\u3063\u3066\u3044\u308b\uff09\u3084\u3001\u89aa\u6307\u306e\u5f62\u6210\u4e0d\u5168\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>2. \u5916\u80da\u8449\u5f62\u6210\u4e0d\u5168\u30fb\u76ae\u819a\u75c7\u72b6\uff08Ectodermal features\uff09<\/strong><\/p>\n\n\n\n<p><em>UBA2<\/em>\u907a\u4f1d\u5b50\u306e\u6a5f\u80fd\u4e0d\u5168\u306b\u3088\u308a\u3001\u76ae\u819a\u3084\u9aea\u306e\u6bdb\u306e\u5f62\u6210\u306b\u7279\u5fb4\u304c\u73fe\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5148\u5929\u6027\u982d\u76ae\u6b20\u640d\uff08Aplasia cutis congenita; ACC\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u51fa\u751f\u6642\u306b\u3001\u982d\u9802\u90e8\u306e\u4e00\u90e8\u306e\u76ae\u819a\u304c\u6b20\u640d\u3057\u3066\u304a\u308a\u3001\u6f70\u760d\u3084\u50b7\u306e\u3088\u3046\u306b\u306a\u3063\u3066\u3044\u308b\u72b6\u614b\u3067\u3059\u3002\u672c\u75c7\u5019\u7fa4\u306e**\u7d0430\u301c50%**\u306b\u898b\u3089\u308c\u308b\u91cd\u8981\u306a\u5fb4\u5019\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u591a\u304f\u306e\u5834\u5408\u306f\u81ea\u7136\u306b\u6cbb\u7652\u3057\u3066\u7622\u75d5\uff08\u50b7\u8de1\uff09\u306b\u306a\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u6bdb\u9aea\u306e\u7570\u5e38:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u9aea\u306e\u6bdb\u304c\u7d30\u304f\u3001\u307e\u3070\u3089\uff08Sparse hair\uff09\u3002<\/li>\n\n\n\n<li>\u4f38\u3073\u308b\u306e\u304c\u9045\u3044\u3001\u629c\u3051\u3084\u3059\u3044\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u76ae\u819a\u30fb\u722a:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u76ae\u819a\u304c\u8584\u3044\u3001\u4e7e\u71e5\u3057\u3084\u3059\u3044\u3002<\/li>\n\n\n\n<li>\u722a\u304c\u5c0f\u3055\u3044\u3001\u8584\u3044\u3001\u5f62\u304c\u3044\u3073\u3064\u3067\u3042\u308b\u3002<\/li>\n\n\n\n<li>\u4e73\u9996\u306e\u4f4e\u5f62\u6210\uff08Hypoplastic nipples\uff09\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>3. \u795e\u7d4c\u767a\u9054\u30fb\u8a8d\u77e5\u6a5f\u80fd<\/strong><\/p>\n\n\n\n<p>\u307b\u307c\u5168\u4f8b\u3067\u3001\u4e2d\u7b49\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>\u5c0f\u982d\u75c7\uff08Microcephaly\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u51fa\u751f\u6642\u3001\u3042\u308b\u3044\u306f\u6210\u9577\u3068\u3068\u3082\u306b\u982d\u56f2\u304c\u5c0f\u3055\u304f\u306a\u308b\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u3002\u3053\u308c\u306f\u8133\u306e\u5bb9\u91cf\u304c\u5c0f\u3055\u3044\u3053\u3068\u3092\u793a\u5506\u3057\u3066\u304a\u308a\u3001<em>UBA2<\/em>\u6b20\u5931\u306e\u5f71\u97ff\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u77e5\u7684\u969c\u5bb3\uff08ID\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8efd\u5ea6\u304b\u3089\u4e2d\u7b49\u5ea6\u3001\u5834\u5408\u306b\u3088\u3063\u3066\u306f\u91cd\u5ea6\u306e\u77e5\u7684\u969c\u5bb3\u3092\u4f34\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u767a\u9054\u9045\u6ede\uff08DD\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8a00\u8449\u306e\u9045\u308c\uff08Speech delay\uff09\u304c\u9855\u8457\u3067\u3059\u3002\u8a00\u8449\u304c\u51fa\u308b\u306e\u304c\u9045\u3044\u3001\u3042\u308b\u3044\u306f\u767a\u97f3\u304c\u4e0d\u660e\u77ad\u306a\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u904b\u52d5\u767a\u9054\uff08\u9996\u3059\u308f\u308a\u3001\u6b69\u884c\u306a\u3069\uff09\u3082\u3086\u3063\u304f\u308a\u306a\u50be\u5411\u304c\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>\u81ea\u9589\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u75c7\uff08ASD\uff09\u3084\u6ce8\u610f\u6b20\u9665\u30fb\u591a\u52d5\u6027\u969c\u5bb3\uff08ADHD\uff09\u306a\u3069\u306e\u884c\u52d5\u7279\u6027\u3001\u4e0d\u5b89\u306e\u5f37\u3055\u3001\u653b\u6483\u7684\u884c\u52d5\u306a\u3069\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>4. \u7279\u5fb4\u7684\u306a\u9854\u8c8c\uff08Craniofacial features\uff09<\/strong><\/p>\n\n\n\n<p>\u6210\u9577\u3068\u3068\u3082\u306b\u5909\u5316\u3057\u307e\u3059\u304c\u3001\u3044\u304f\u3064\u304b\u306e\u5171\u901a\u3057\u305f\u7279\u5fb4\uff08Dysmorphism\uff09\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u9577\u3044\u9854\uff08\u9762\u9577\uff09\u307e\u305f\u306f\u4e09\u89d2\u5f62\u306e\u9854\u7acb\u3061\u3002<\/li>\n\n\n\n<li>\u5e83\u3044\u984d\u3001\u307e\u305f\u306f\u5c0f\u982d\u75c7\u306b\u4f34\u3046\u50be\u659c\u3057\u305f\u984d\u3002<\/li>\n\n\n\n<li>\u773c\u9593\u958b\u96e2\uff08\u76ee\u304c\u96e2\u308c\u3066\u3044\u308b\uff09\u3002<\/li>\n\n\n\n<li>\u773c\u77bc\u88c2\u659c\u4e0b\uff08\u30bf\u30ec\u76ee\uff09\u3001\u773c\u77bc\u4e0b\u5782\u3002<\/li>\n\n\n\n<li>\u77ed\u3044\u9f3b\u3001\u5e73\u5766\u306a\u9f3b\u6839\u90e8\u3002<\/li>\n\n\n\n<li>\u8584\u3044\u5507\u3001\u4eba\u4e2d\uff08\u9f3b\u306e\u4e0b\uff09\u304c\u9577\u3044\u3002<\/li>\n\n\n\n<li>\u8033\u306e\u4f4d\u7f6e\u304c\u4f4e\u3044\u3001\u8033\u306e\u5f62\u306e\u5909\u5f62\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>\u6ccc\u5c3f\u751f\u6b96\u5668:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u7537\u5150\u3067\u306f<strong>\u5c3f\u9053\u4e0b\u88c2<\/strong>\uff08\u5c3f\u306e\u51fa\u53e3\u304c\u6b63\u5e38\u306a\u4f4d\u7f6e\u3088\u308a\u4e0b\u306b\u3042\u308b\uff09\u3084\u3001\u505c\u7559\u7cbe\u5de3\uff08\u30bf\u30de\u304c\u964d\u308a\u3066\u3053\u306a\u3044\uff09\u304c\u9ad8\u983b\u5ea6\u3067\u898b\u3089\u308c\u307e\u3059\uff08<em>WTIP<\/em>\u907a\u4f1d\u5b50\u6b20\u5931\u306e\u5f71\u97ff\u306e\u53ef\u80fd\u6027\uff09\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u773c\u79d1:<\/strong> \u659c\u8996\u3001\u9060\u8996\u3001\u8fd1\u8996\u306a\u3069\u3002<\/li>\n\n\n\n<li><strong>\u6442\u98df:<\/strong> \u4e73\u5150\u671f\u306e\u54fa\u4e73\u4e0d\u826f\u3001\u4f53\u91cd\u5897\u52a0\u4e0d\u826f\uff08Failure to thrive\uff09\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u539f\u56e0<\/strong><\/h2>\n\n\n\n<p><strong>19\u756a\u67d3\u8272\u4f53\u9577\u8155\uff0819q13.11\uff09\u306b\u304a\u3051\u308b\u5fae\u7d30\u6b20\u5931\u306b\u3088\u308b\u3001UBA2\u907a\u4f1d\u5b50\u7b49\u306e\u30cf\u30d7\u30ed\u4e0d\u5168<\/strong>\u304c\u539f\u56e0\u3067\u3059\u3002<\/p>\n\n\n\n<p><strong>1. UBA2\u306e\u30cf\u30d7\u30ed\u4e0d\u5168\u3068SUMO\u5316<\/strong><\/p>\n\n\n\n<p>\u3053\u306e\u75be\u60a3\u306e\u30e1\u30ab\u30cb\u30ba\u30e0\u3092\u7406\u89e3\u3059\u308b\u4e0a\u3067\u91cd\u8981\u306a\u306e\u304c\u300cSUMO\u5316\u300d\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u7d30\u80de\u306e\u4e2d\u3067\u306f\u3001\u30bf\u30f3\u30d1\u30af\u8cea\u304c\u6b63\u3057\u304f\u50cd\u304f\u305f\u3081\u306b\u69d8\u3005\u306a\u300c\u76ee\u5370\u300d\u304c\u3064\u3051\u3089\u308c\u307e\u3059\u3002\u305d\u306e\u4e00\u3064\u304cSUMO\uff08Small Ubiquitin-like Modifier\uff09\u30bf\u30f3\u30d1\u30af\u8cea\u3067\u3059\u3002<\/p>\n\n\n\n<p>UBA2\u907a\u4f1d\u5b50\u304c\u4f5c\u308b\u9175\u7d20\u306f\u3001\u3053\u306eSUMO\u3092\u6a19\u7684\u306e\u30bf\u30f3\u30d1\u30af\u8cea\u306b\u304f\u3063\u3064\u3051\u308b\u6700\u521d\u306e\u30b9\u30c6\u30c3\u30d7\uff08\u6d3b\u6027\u5316\uff09\u3092\u62c5\u3063\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u76ae\u819a\u30fb\u9aea\u3078\u306e\u5f71\u97ff:<\/strong> SUMO\u5316\u306f\u3001\u76ae\u819a\u3084\u6bdb\u6839\u306e\u7d30\u80de\u304c\u5897\u6b96\u30fb\u5206\u5316\u3059\u308b\u305f\u3081\u306b\u5fc5\u8981\u306a\u30b7\u30b0\u30ca\u30eb\u4f1d\u9054\u306b\u95a2\u308f\u3063\u3066\u3044\u307e\u3059\u3002\u3053\u308c\u304c\u4e0d\u8db3\u3059\u308b\u3068\u3001\u76ae\u819a\u304c\u4f5c\u3089\u308c\u306a\u304b\u3063\u305f\u308a\uff08\u982d\u76ae\u6b20\u640d\uff09\u3001\u9aea\u304c\u80b2\u305f\u306a\u304b\u3063\u305f\u308a\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u8133\u3078\u306e\u5f71\u97ff:<\/strong> \u795e\u7d4c\u7d30\u80de\u306e\u30cd\u30c3\u30c8\u30ef\u30fc\u30af\u5f62\u6210\u3084\u3001\u30b7\u30ca\u30d7\u30b9\u306e\u6a5f\u80fd\u7dad\u6301\u306b\u3082SUMO\u5316\u304c\u95a2\u308f\u3063\u3066\u3044\u308b\u305f\u3081\u3001\u4e0d\u8db3\u3059\u308b\u3068\u5c0f\u982d\u75c7\u3084\u77e5\u7684\u969c\u5bb3\u306b\u3064\u306a\u304c\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u767a\u751f\u6a5f\u5e8f<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>De novo\uff08\u65b0\u751f\u7a81\u7136\u5909\u7570\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>19q13.11\u5fae\u7d30\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\u767a\u7684\u306b\u751f\u3058\u305f\u7a81\u7136\u5909\u7570\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u3053\u306e\u5834\u5408\u3001\u4e21\u89aa\u306e\u67d3\u8272\u4f53\u306f\u6b63\u5e38\u3067\u3042\u308a\u3001\u6b21\u5b50\u3078\u306e\u518d\u767a\u30ea\u30b9\u30af\u306f\u975e\u5e38\u306b\u4f4e\u3044\uff081%\u672a\u6e80\uff09\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u5bb6\u65cf\u6027\uff08\u89aa\u306e\u8ee2\u5ea7\u306a\u3069\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u7a00\u306b\u3001\u89aa\u304c\u300c\u5747\u8861\u578b\u8ee2\u5ea7\u300d\u306e\u4fdd\u56e0\u8005\u3067\u3042\u308b\u5834\u5408\u3084\u3001\u89aa\u81ea\u8eab\u304c\u8efd\u5ea6\u306e\u75c7\u72b6\uff08\u4f4e\u8eab\u9577\u306e\u307f\u306a\u3069\uff09\u3092\u6301\u3064\u30e2\u30b6\u30a4\u30af\u4fdd\u56e0\u8005\u3067\u3042\u308b\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u8a3a\u65ad\u65b9\u6cd5<\/strong><\/h2>\n\n\n\n<p>\u300c\u982d\u76ae\u6b20\u640d\u300d\u300c\u5c0f\u982d\u75c7\u300d\u300c\u5c3f\u9053\u4e0b\u88c2\u300d\u306a\u3069\u306e\u8eab\u4f53\u7684\u7279\u5fb4\u3068\u3001\u767a\u9054\u306e\u9045\u308c\u304b\u3089\u7591\u308f\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u67d3\u8272\u4f53\u691c\u67fb\uff08CMA\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>19q13.11\u9818\u57df\u306e\u5fae\u7d30\u6b20\u5931\u3092\u691c\u51fa\u3059\u308b\u305f\u3081\u306e**\u7b2c\u4e00\u9078\u629e\uff08\u30b4\u30fc\u30eb\u30c9\u30b9\u30bf\u30f3\u30c0\u30fc\u30c9\uff09**\u306e\u691c\u67fb\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u6b20\u5931\u7bc4\u56f2\u306b<em>UBA2<\/em>\u907a\u4f1d\u5b50\u304c\u542b\u307e\u308c\u3066\u3044\u308b\u3053\u3068\u3092\u78ba\u8a8d\u3059\u308b\u3053\u3068\u3067\u3001\u75c7\u72b6\u306e\u539f\u56e0\u304c\u7279\u5b9a\u3055\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u5168\u30a8\u30af\u30bd\u30fc\u30e0\u89e3\u6790\uff08WES\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u67d3\u8272\u4f53\u6b20\u5931\u3067\u306f\u306a\u304f\u3001<em>UBA2<\/em>\u907a\u4f1d\u5b50\u305d\u306e\u3082\u306e\u306e\u70b9\u5909\u7570\uff08\u907a\u4f1d\u5b50\u306e\u6587\u5b57\u5316\u3051\uff09\u306b\u3088\u3063\u3066\u3082\u540c\u69d8\u306e\u75c7\u72b6\uff08UBA2\u95a2\u9023\u969c\u5bb3\uff09\u304c\u8d77\u3053\u308b\u305f\u3081\u3001CMA\u3067\u7570\u5e38\u304c\u306a\u304b\u3063\u305f\u5834\u5408\u306b\u884c\u308f\u308c\u308b\u3053\u3068\u304c\u3042\u308a\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\u3084\u907a\u4f1d\u5b50\u3092\u4fee\u5fa9\u3059\u308b\u6839\u672c\u7684\u306a\u6cbb\u7642\u6cd5\u306f\u3001\u73fe\u6642\u70b9\u3067\u306f\u5b58\u5728\u3057\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\u6210\u9577\u30fb\u767a\u9054\u3092\u652f\u3048\u308b\u305f\u3081\u306e\u5305\u62ec\u7684\u306a\u652f\u63f4\u304c\u4e2d\u5fc3\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u5916\u79d1\u7684\u30fb\u76ae\u819a\u79d1\u7684\u6cbb\u7642<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5148\u5929\u6027\u982d\u76ae\u6b20\u640d:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u5c0f\u3055\u306a\u6b20\u640d\u3067\u3042\u308c\u3070\u3001\u8edf\u818f\u51e6\u7f6e\u306a\u3069\u3067\u81ea\u7136\u6cbb\u7652\u3092\u5f85\u3061\u307e\u3059\uff08\u4fdd\u5b58\u7684\u6cbb\u7642\uff09\u3002<\/li>\n\n\n\n<li>\u6b20\u640d\u7bc4\u56f2\u304c\u5e83\u3044\u5834\u5408\u3084\u3001\u51fa\u8840\u30fb\u611f\u67d3\u306e\u30ea\u30b9\u30af\u304c\u3042\u308b\u5834\u5408\u306f\u3001\u5f62\u6210\u5916\u79d1\u306b\u3088\u308b\u7e2b\u5408\u624b\u8853\u3084\u76ae\u819a\u79fb\u690d\u304c\u884c\u308f\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u5c3f\u9053\u4e0b\u88c2\u30fb\u505c\u7559\u7cbe\u5de3:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u6ccc\u5c3f\u5668\u79d1\u306b\u3066\u3001\u9069\u5207\u306a\u6642\u671f\uff08\u901a\u5e38\u306f1\u6b73\u524d\u5f8c\u301c\u5c31\u5b66\u524d\uff09\u306b\u624b\u8853\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u767a\u9054\u30fb\u7642\u80b2\u7684\u652f\u63f4<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u65e9\u671f\u7642\u80b2:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u767a\u9054\u306e\u9045\u308c\u304c\u3042\u308b\u5834\u5408\u3001\u65e9\u671f\u304b\u3089\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\u7642\u6cd5:<\/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\u80fd\u529b\u3092\u9ad8\u3081\u308b\u652f\u63f4\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u6804\u990a\u7ba1\u7406:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u54fa\u4e73\u4e0d\u826f\u3084\u4f53\u91cd\u5897\u52a0\u4e0d\u826f\u304c\u3042\u308b\u5834\u5408\u3001\u9ad8\u30ab\u30ed\u30ea\u30fc\u30df\u30eb\u30af\u306e\u4f7f\u7528\u3084\u3001\u98df\u4e8b\u5f62\u614b\u306e\u5de5\u592b\u3001\u6804\u990a\u6307\u5c0e\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u5065\u5eb7\u7ba1\u7406\uff08\u30b5\u30fc\u30d9\u30a4\u30e9\u30f3\u30b9\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u6210\u9577\u30e2\u30cb\u30bf\u30ea\u30f3\u30b0:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u5b9a\u671f\u7684\u306b\u8eab\u9577\u30fb\u4f53\u91cd\u30fb\u982d\u56f2\u3092\u8a08\u6e2c\u3057\u3001\u6210\u9577\u66f2\u7dda\u3092\u8a55\u4fa1\u3057\u307e\u3059\u3002\u8457\u3057\u3044\u4f4e\u8eab\u9577\u304c\u3042\u308b\u5834\u5408\u306f\u5185\u5206\u6ccc\u79d1\u3067\u306e\u7cbe\u67fb\uff08\u6210\u9577\u30db\u30eb\u30e2\u30f3\u5206\u6ccc\u523a\u6fc0\u8a66\u9a13\u306a\u3069\uff09\u3092\u691c\u8a0e\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u9aa8\u683c\u81ea\u4f53\u306e\u554f\u984c\u3067\u3042\u308b\u5834\u5408\u306f\u30db\u30eb\u30e2\u30f3\u6cbb\u7642\u306e\u52b9\u679c\u306f\u9650\u5b9a\u7684\u304b\u3082\u3057\u308c\u307e\u305b\u3093\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u773c\u79d1\u30fb\u8074\u899a\u691c\u8a3a:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8996\u529b\u3084\u8074\u529b\u306b\u554f\u984c\u304c\u306a\u3044\u304b\u3001\u5b9a\u671f\u7684\u306b\u30c1\u30a7\u30c3\u30af\u3057\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>\u672c\u75be\u60a3\u306f\u5e0c\u5c11\u3067\u3042\u308a\u3001\u60c5\u5831\u304c\u5c11\u306a\u3044\u4e2d\u3067\u4e0d\u5b89\u3092\u611f\u3058\u308b\u3054\u5bb6\u65cf\u304c\u591a\u3044\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u8a3a\u65ad\u306e\u610f\u5473\u3001\u4eca\u5f8c\u306e\u898b\u901a\u3057\u3001\u6b21\u5b50\u306e\u518d\u767a\u30ea\u30b9\u30af\uff08\u901a\u5e38\u306f\u4f4e\u3044\u304c\u3001\u89aa\u306e\u691c\u67fb\u3092\u63a8\u5968\u3059\u308b\u5834\u5408\u3082\u3042\u308b\uff09\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\u3057\u3001\u6b63\u78ba\u306a\u60c5\u5831\u3092\u5f97\u308b\u3053\u3068\u304c\u5927\u5207\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>19q13.11 microdeletion syndrome\u306f\u300119\u756a\u67d3\u8272\u4f53\u306e\u4e00\u90e8\u3001\u7279\u306bUBA2\u3068\u3044\u3046\u907a\u4f1d\u5b50\u304c\u6b20\u5931\u3059\u308b\u3053\u3068\u3067\u8d77\u3053\u308b\u5e0c\u5c11\u306a\u75be\u60a3\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u300c\u751f\u307e\u308c\u3064\u304d\u982d\u306e\u76ae\u819a\u304c\u4e00\u90e8\u306a\u3044\u300d\u300c\u9aea\u306e\u6bdb\u304c\u8584\u3044\u300d\u300c\u4f53\u304c\u5c0f\u3055\u3044\u300d\u300c\u8a00\u8449\u304c\u3086\u3063\u304f\u308a\u300d\u3068\u3044\u3063\u305f\u7279\u5fb4\u304c\u7d44\u307f\u5408\u308f\u3055\u3063\u3066\u73fe\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u8a3a\u65ad\u3055\u308c\u305f\u5f53\u521d\u306f\u3001\u805e\u304d\u6163\u308c\u306a\u3044\u75c5\u540d\u3084\u69d8\u3005\u306a\u75c7\u72b6\u306b\u6238\u60d1\u308f\u308c\u308b\u304b\u3082\u3057\u308c\u307e\u305b\u3093\u304c\u3001\u3053\u306e\u75be\u60a3\u306e\u75c7\u72b6\u306b\u306f\u305d\u308c\u305e\u308c\u5bfe\u5fdc\u7b56\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u982d\u76ae\u306e\u50b7\u306f\u304d\u308c\u3044\u306b\u6cbb\u3059\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3057\u3001\u4f53\u306e\u5c0f\u3055\u3055\u3084\u767a\u9054\u306e\u9045\u308c\u306b\u5bfe\u3057\u3066\u3082\u3001\u533b\u7642\u3068\u7642\u80b2\u306e\u4e21\u9762\u304b\u3089\u30b5\u30dd\u30fc\u30c8\u3059\u308b\u65b9\u6cd5\u304c\u305f\u304f\u3055\u3093\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u307e\u305f\u3001\u9aea\u306e\u6bdb\u304c\u8584\u3044\u306a\u3069\u306e\u5916\u898b\u7684\u306a\u7279\u5fb4\u306b\u5bfe\u3057\u3066\u3082\u3001\u6210\u9577\u306b\u5408\u308f\u305b\u305f\u30b1\u30a2\u304c\u53ef\u80fd\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u304a\u5b50\u3055\u3093\u306f\u305d\u308c\u305e\u308c\u306e\u30da\u30fc\u30b9\u3067\u78ba\u5b9f\u306b\u6210\u9577\u3057\u3066\u3044\u304d\u307e\u3059\u3002\u533b\u7642\u30c1\u30fc\u30e0\u3001\u7642\u80b2\u30b9\u30bf\u30c3\u30d5\u3001\u305d\u3057\u3066\u3054\u5bb6\u65cf\u304c\u5354\u529b\u3057\u5408\u3044\u3001\u305d\u306e\u5b50\u3089\u3057\u3044\u8c4a\u304b\u306a\u6210\u9577\u3092\u898b\u5b88\u3063\u3066\u3044\u304f\u3053\u3068\u304c\u4f55\u3088\u308a\u306e\u652f\u3048\u3068\u306a\u308a\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>Mayer, A.K., et al.<\/strong> (2012). <em>Haploinsufficiency of UBA2 causes aplasia cutis congenita and ectodermal dysplasia.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203b19q13.11\u6b20\u5931\u75c7\u5019\u7fa4\u306b\u304a\u3044\u3066\u3001UBA2\u907a\u4f1d\u5b50\u306e\u6b20\u5931\u304c\u982d\u76ae\u6b20\u640d\u3084\u5916\u80da\u8449\u5f62\u6210\u4e0d\u5168\u306e\u76f4\u63a5\u7684\u306a\u539f\u56e0\u3067\u3042\u308b\u3053\u3068\u3092\u7a81\u304d\u6b62\u3081\u305f\u3001\u672c\u75be\u60a3\u306e\u6982\u5ff5\u3092\u78ba\u7acb\u3057\u305f\u6700\u91cd\u8981\u8ad6\u6587\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Sukenik-Halevy, R., et al.<\/strong> (2018). <em>19q13.11 microdeletion syndrome: clinical and molecular characterization of two new patients and review of the literature.<\/em> American Journal of Medical Genetics Part A.\n<ul class=\"wp-block-list\">\n<li>(\u203b\u65b0\u305f\u306a\u75c7\u4f8b\u5831\u544a\u3068\u3068\u3082\u306b\u3001\u904e\u53bb\u306e\u6587\u732e\u3092\u30ec\u30d3\u30e5\u30fc\u3057\u3001\u5c0f\u982d\u75c7\u3001\u4f4e\u8eab\u9577\u3001\u5c3f\u9053\u4e0b\u88c2\uff08WTIP\u907a\u4f1d\u5b50\u306e\u95a2\u4e0e\uff09\u306a\u3069\u306e\u81e8\u5e8a\u7684\u7279\u5fb4\u3092\u8a73\u7d30\u306b\u307e\u3068\u3081\u305f\u6587\u732e\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Fannemel, M., et al.<\/strong> (2014). <em>Haploinsufficiency of UBA2 in a patient with cutis aplasia, microcephaly, and dysmorphic features.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203bUBA2\u30cf\u30d7\u30ed\u4e0d\u5168\u304c\u5f15\u304d\u8d77\u3053\u3059\u8868\u73fe\u578b\uff08\u5c0f\u982d\u75c7\u3001\u9854\u8c8c\u7570\u5e38\u306a\u3069\uff09\u306b\u3064\u3044\u3066\u306e\u8a73\u7d30\u306a\u75c7\u4f8b\u5831\u544a\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Unique (Rare Chromosome Disorder Support Group)<\/strong>: <em>19q13 deletions<\/em> (2020).\n<ul class=\"wp-block-list\">\n<li>(\u203b\u60a3\u8005\u5bb6\u65cf\u5411\u3051\u306b\u300119q13\u9818\u57df\u306e\u6b20\u5931\u306b\u95a2\u3059\u308b\u60c5\u5831\u3092\u5e73\u6613\u306b\u307e\u3068\u3081\u305f\u30ac\u30a4\u30c9\u30d6\u30c3\u30af\u300219q13.11\u306b\u3064\u3044\u3066\u306e\u8a18\u8ff0\u3082\u542b\u307e\u308c\u308b\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>ClinGen Dosage Sensitivity Curation<\/strong>: <em>UBA2<\/em> (Haploinsufficiency score: 3 &#8211; Sufficient evidence).\n<ul class=\"wp-block-list\">\n<li>(\u203bUBA2\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\u30ec\u30d9\u30eb\u3092\u8a55\u4fa1\u3057\u305f\u30c7\u30fc\u30bf\u30d9\u30fc\u30b9\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>DECIPHER Database<\/strong>: <em>Genomic coordinates and phenotype data for 19q13.11 deletions.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203b\u4e16\u754c\u4e2d\u306e\u60a3\u8005\u30c7\u30fc\u30bf\u3092\u96c6\u7a4d\u3057\u305f\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> 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