{"id":16739,"date":"2026-01-20T01:21:37","date_gmt":"2026-01-20T01:21:37","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/gene\/?post_type=genetic-screening&#038;p=16739"},"modified":"2026-01-20T05:46:40","modified_gmt":"2026-01-20T05:46:40","slug":"17q12-deletion-syndrome","status":"publish","type":"genetic-screening","link":"https:\/\/www.hiro-clinic.or.jp\/gene\/genetic-screening\/17q12-deletion-syndrome\/","title":{"rendered":"17q12 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>17q12\u6b20\u5931\u75c7\u5019\u7fa4<\/li>\n\n\n\n<li>17q12\u5fae\u7d30\u6b20\u5931\u75c7\u5019\u7fa4\uff0817q12 microdeletion syndrome\uff09<\/li>\n\n\n\n<li>\u814e\u56a2\u80de\u30fb\u7cd6\u5c3f\u75c5\u75c7\u5019\u7fa4\uff08Renal Cysts and Diabetes syndrome; RCAD\uff09\u203b1<\/li>\n\n\n\n<li>\u82e5\u5e74\u767a\u75c7\u6210\u4eba\u578b\u7cd6\u5c3f\u75c55\u578b\uff08Maturity-Onset Diabetes of the Young type 5; MODY5\uff09\u203b2<\/li>\n\n\n\n<li>HNF1B\u95a2\u9023\u75be\u60a3\uff08HNF1B-related disorder\uff09<\/li>\n\n\n\n<li>17q12\u30e2\u30ce\u30bd\u30df\u30fc\uff08Monosomy 17q12\uff09<\/li>\n<\/ul>\n\n\n\n<p>\u203b\u75be\u60a3\u540d\u306e\u89e3\u8aac\uff1a<\/p>\n\n\n\n<p>\u3053\u306e\u75c7\u5019\u7fa4\u306f\u3001\u6b74\u53f2\u7684\u306b\u300cMODY5\uff08\u7cd6\u5c3f\u75c5\u306e\u4e00\u7a2e\uff09\u300d\u3084\u300cRCAD\uff08\u814e\u81d3\u3068\u7cd6\u5c3f\u75c5\u306e\u75c5\u6c17\uff09\u300d\u3068\u3057\u3066\u77e5\u3089\u308c\u3066\u304d\u307e\u3057\u305f\u304c\u3001\u305d\u308c\u3089\u306e\u6839\u672c\u539f\u56e0\u304c\u300c17q12\u9818\u57df\u306e\u6b20\u5931\u300d\u3067\u3042\u308b\u3053\u3068\u304c\u5224\u660e\u3057\u307e\u3057\u305f\u3002<\/p>\n\n\n\n<p>\u305d\u306e\u305f\u3081\u3001\u73fe\u5728\u3067\u306f\u300c17q12\u6b20\u5931\u75c7\u5019\u7fa4\u300d\u3068\u3044\u3046\u540d\u79f0\u304c\u3001\u814e\u81d3\u30fb\u7cd6\u5c3f\u75c5\u30fb\u795e\u7d4c\u30fb\u751f\u6b96\u5668\u306e\u3059\u3079\u3066\u306e\u75c7\u72b6\u3092\u5305\u62ec\u3059\u308b\u8a3a\u65ad\u540d\u3068\u3057\u3066\u7528\u3044\u3089\u308c\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>17\u756a\u67d3\u8272\u4f53 \u9577\u8155\uff08q\uff0912\u9818\u57df<\/strong><\/p>\n\n\n\n<p>\u672c\u75be\u60a3\u306f\u3001\u30d2\u30c8\u306e17\u756a\u67d3\u8272\u4f53\u306e\u9577\u8155\u306b\u3042\u308b\u300c12\u300d\u3068\u547c\u3070\u308c\u308b\u30d0\u30f3\u30c9\u9818\u57df\u306b\u304a\u3044\u3066\u3001DNA\u914d\u5217\u306e\u4e00\u90e8\u304c\u6b20\u5931\u3059\u308b\u3053\u3068\uff08\u30b3\u30d4\u30fc\u6570\u304c1\u3064\u306b\u306a\u308b\uff1a\u30cf\u30d7\u30ed\u4e0d\u5168\uff09\u306b\u3088\u3063\u3066\u751f\u3058\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>\u3010\u30b2\u30ce\u30e0\u4e0a\u306e\u8a73\u7d30\u3068\u6b20\u5931\u30bf\u30a4\u30d7\u3011<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u6b20\u5931\u30b5\u30a4\u30ba:<\/strong> \u5178\u578b\u7684\u306b\u306f\u7d041.4\u30e1\u30ac\u30d9\u30fc\u30b9\uff08Mb\uff09\u306e\u9818\u57df\u304c\u6b20\u5931\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u542b\u307e\u308c\u308b\u907a\u4f1d\u5b50:<\/strong> \u3053\u306e\u9818\u57df\u306b\u306f\u7d0415\u500b\u4ee5\u4e0a\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\u4ee5\u4e0b\u306e2\u3064\u306e\u907a\u4f1d\u5b50\u3067\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>HNF1B (Hepatocyte Nuclear Factor 1-Beta):<\/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>\u3053\u306e\u907a\u4f1d\u5b50\u306f\u3001\u80ce\u5150\u671f\u306b\u814e\u81d3\u3001\u81b5\u81d3\u3001\u809d\u81d3\u3001\u751f\u6b96\u7ba1\uff08\u30df\u30e5\u30e9\u30fc\u7ba1\uff09\u306a\u3069\u306e\u81d3\u5668\u304c\u4f5c\u3089\u308c\u308b\u969b\u306b\u53f8\u4ee4\u5854\u3068\u306a\u308b\u300c\u8ee2\u5199\u56e0\u5b50\u300d\u3092\u4f5c\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u3053\u306e\u907a\u4f1d\u5b50\u304c\u534a\u5206\u306b\u306a\u308b\uff08\u30cf\u30d7\u30ed\u4e0d\u5168\uff09\u3053\u3068\u3067\u3001\u814e\u81d3\u306e\u5947\u5f62\u3084\u3001\u30a4\u30f3\u30b9\u30ea\u30f3\u5206\u6ccc\u4e0d\u5168\uff08\u7cd6\u5c3f\u75c5\uff09\u3001\u5b50\u5bae\u5947\u5f62\u306a\u3069\u304c\u5f15\u304d\u8d77\u3053\u3055\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>LHX1 (LIM Homeobox 1):<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8133\u3084\u751f\u6b96\u5668\u306e\u767a\u9054\u306b\u95a2\u4e0e\u3059\u308b\u907a\u4f1d\u5b50\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u795e\u7d4c\u767a\u9054\u75c7\uff08\u81ea\u9589\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u75c7\u306a\u3069\uff09\u3084\u3001\u5973\u6027\u306e\u751f\u6b96\u5668\u5f62\u6210\u4e0d\u5168\uff08MRKH\u75c7\u5019\u7fa4\u69d8\u75c7\u72b6\uff09\u306b\u95a2\u4e0e\u3057\u3066\u3044\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p>\u305d\u306e\u4ed6\u3001<em>ACACA<\/em>\u306a\u3069\u306e\u907a\u4f1d\u5b50\u3082\u6b20\u5931\u7bc4\u56f2\u306b\u542b\u307e\u308c\u3001\u4ee3\u8b1d\u3084\u795e\u7d4c\u6a5f\u80fd\u3078\u306e\u5f71\u97ff\u304c\u7814\u7a76\u3055\u308c\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>\u7a00\u3060\u304c\u3001\u904e\u5c11\u8a3a\u65ad\u3055\u308c\u3066\u3044\u308b\u53ef\u80fd\u6027\u304c\u9ad8\u3044<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u63a8\u5b9a\u983b\u5ea6:<\/strong> \u4e00\u822c\u96c6\u56e3\u306b\u304a\u3051\u308b\u983b\u5ea6\u306f\u3001\u7d0414,000\u4eba\u306b1\u4eba \u301c 62,500\u4eba\u306b1\u4eba\u7a0b\u5ea6\u3068\u63a8\u5b9a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u81e8\u5e8a\u73fe\u5834\u3067\u306e\u983b\u5ea6:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u814e\u5947\u5f62\uff08\u7279\u306b\u814e\u4f4e\u5f62\u6210\u3084\u56a2\u80de\uff09\u3092\u6301\u3064\u5c0f\u5150\u306e\u7d042\u301c6%\u306b\u898b\u3064\u304b\u308b\u3068\u8a00\u308f\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u82e5\u5e74\u767a\u75c7\u306e\u7cd6\u5c3f\u75c5\u60a3\u8005\u306e\u4e2d\u306b\u3082\u4e00\u5b9a\u6570\u542b\u307e\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u8a3a\u65ad\u306e\u96e3\u3057\u3055:<\/strong> \u75c7\u72b6\u306b\u500b\u4eba\u5dee\u304c\u975e\u5e38\u306b\u5927\u304d\u304f\u3001\u814e\u81d3\u306e\u75c7\u72b6\u3057\u304b\u306a\u3044\u4eba\u3001\u7cd6\u5c3f\u75c5\u3060\u3051\u306e \u4eba\u3001\u3042\u308b\u3044\u306f\u767a\u9054\u306e\u554f\u984c\u3060\u3051\u306e\u4eba\u304c\u3044\u308b\u305f\u3081\u3001\u3059\u3079\u3066\u306e\u75c7\u72b6\u304c\u63c3\u308f\u306a\u3044\u9650\u308a\u300c17q12\u6b20\u5931\u75c7\u5019\u7fa4\u300d\u3068\u3057\u3066\u8a3a\u65ad\u3055\u308c\u305a\u306b\u898b\u904e\u3054\u3055\u308c\u3066\u3044\u308b\u30b1\u30fc\u30b9\u304c\u591a\u3044\u3068\u8003\u3048\u3089\u308c\u3066\u3044\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>17q12 deletion syndrome\u306e\u75c7\u72b6\u306f\u3001\u300c\u814e\u81d3\u300d\u300c\u81b5\u81d3\uff08\u7cd6\u5c3f\u75c5\uff09\u300d\u300c\u795e\u7d4c\u767a\u9054\u300d\u300c\u751f\u6b96\u5668\u300d\u306e4\u3064\u306e\u67f1\u3067\u69cb\u6210\u3055\u308c\u307e\u3059\u3002\u3053\u308c\u3089\u304c\u3069\u306e\u7a0b\u5ea6\u73fe\u308c\u308b\u304b\u306f\u3001\u60a3\u8005\u3055\u3093\u4e00\u4eba\u3072\u3068\u308a\u5168\u304f\u7570\u306a\u308a\u307e\u3059\uff08\u53ef\u5909\u8868\u73fe\u6027\uff09\u3002<\/p>\n\n\n\n<p><strong>1. \u814e\u81d3\u30fb\u5c3f\u8def\u7cfb\u306e\u7570\u5e38\uff08CAKUT\uff09<\/strong><\/p>\n\n\n\n<p>\u6700\u3082\u9ad8\u983b\u5ea6\uff08\u7d0485\u301c90%\uff09\u306b\u898b\u3089\u308c\u308b\u75c7\u72b6\u3067\u3042\u308a\u3001\u80ce\u5150\u671f\u306e\u30a8\u30b3\u30fc\u691c\u67fb\u3067\u898b\u3064\u304b\u308b\u6700\u521d\u306e\u30b5\u30a4\u30f3\u3068\u306a\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u814e\u56a2\u80de\uff08Cysts\uff09:<\/strong> \u814e\u81d3\u306e\u4e2d\u306b\u6c34\u304c\u305f\u307e\u3063\u305f\u888b\uff08\u56a2\u80de\uff09\u304c\u3067\u304d\u307e\u3059\u3002\u76ae\u8cea\u306b\u591a\u767a\u3059\u308b\u3053\u3068\u304c\u7279\u5fb4\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u814e\u7570\u5f62\u6210\u30fb\u4f4e\u5f62\u6210:<\/strong> \u814e\u81d3\u306e\u7d44\u7e54\u304c\u6b63\u5e38\u306b\u4f5c\u3089\u308c\u306a\u3044\u3001\u3042\u308b\u3044\u306f\u30b5\u30a4\u30ba\u304c\u5c0f\u3055\u3044\uff08\u7247\u65b9\u307e\u305f\u306f\u4e21\u65b9\uff09\u3002<\/li>\n\n\n\n<li><strong>\u80ce\u5150\u671f\u306e\u9ad8\u8f1d\u5ea6\u814e:<\/strong> \u598a\u5a20\u4e2d\u306e\u8d85\u97f3\u6ce2\u691c\u67fb\u3067\u3001\u80ce\u5150\u306e\u814e\u81d3\u304c\u767d\u304f\u8f1d\u3044\u3066\u898b\u3048\u308b\uff08Hyperechogenic kidneys\uff09\u3053\u3068\u304c\u3042\u308a\u3001\u8a3a\u65ad\u306e\u304d\u3063\u304b\u3051\u306b\u306a\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u814e\u6a5f\u80fd\u969c\u5bb3:<\/strong> \u5c0f\u5150\u671f\u304b\u3089\u6162\u6027\u814e\u81d3\u75c5\uff08CKD\uff09\u3092\u767a\u75c7\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u3001\u6210\u4eba\u671f\u306b\u304b\u3051\u3066\u672b\u671f\u814e\u4e0d\u5168\u306b\u81f3\u308a\u3001\u900f\u6790\u3084\u79fb\u690d\u304c\u5fc5\u8981\u306b\u306a\u308b\u30b1\u30fc\u30b9\u3082\u3042\u308a\u307e\u3059\u3002\u305f\u3060\u3057\u3001\u814e\u6a5f\u80fd\u304c\u6b63\u5e38\u306a\u307e\u307e\u7d4c\u904e\u3059\u308b\u65b9\u3082\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u305d\u306e\u4ed6:<\/strong> \u5358\u814e\uff08\u7247\u65b9\u3057\u304b\u306a\u3044\uff09\u3001\u99ac\u8e44\u814e\u306a\u3069\u306e\u5f62\u614b\u7570\u5e38\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u7cd6\u5c3f\u75c5\uff08MODY5\uff09<\/strong><\/p>\n\n\n\n<p>\u7d0440\u301c60%\u306e\u60a3\u8005\u3055\u3093\u304c\u3001\u5c0f\u5150\u671f\u301c\u82e5\u5e74\u6210\u4eba\u671f\uff08\u591a\u304f\u306f25\u6b73\u672a\u6e80\uff09\u306b\u7cd6\u5c3f\u75c5\u3092\u767a\u75c7\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>MODY5\u306e\u7279\u5fb4:<\/strong>\n<ul class=\"wp-block-list\">\n<li>1\u578b\u7cd6\u5c3f\u75c5\uff08\u81ea\u5df1\u514d\u75ab\uff09\u3067\u3082\u30012\u578b\u7cd6\u5c3f\u75c5\uff08\u751f\u6d3b\u7fd2\u6163\uff09\u3067\u3082\u306a\u3044\u3001\u907a\u4f1d\u5b50\u7570\u5e38\u306b\u3088\u308b\u7cd6\u5c3f\u75c5\uff08MODY\uff09\u306e\u4e00\u3064\u3067\u3059\u3002<\/li>\n\n\n\n<li><em>HNF1B<\/em>\u907a\u4f1d\u5b50\u306e\u4e0d\u8db3\u306b\u3088\u308a\u3001\u81b5\u81d3\u306e\u5f62\u6210\u4e0d\u5168\uff08\u81b5\u81d3\u306e\u840e\u7e2e\u3084\u6b20\u640d\uff09\u304c\u8d77\u3053\u308a\u3001\u30a4\u30f3\u30b9\u30ea\u30f3\u3092\u51fa\u3059\u529b\u304c\u5f31\u3044\u305f\u3081\u306b\u767a\u75c7\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u7d4c\u904e:<\/strong> \u6700\u521d\u306f\u98df\u4e8b\u7642\u6cd5\u3084\u98f2\u307f\u85ac\u3067\u7ba1\u7406\u3067\u304d\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u304c\u3001\u30a4\u30f3\u30b9\u30ea\u30f3\u5206\u6ccc\u80fd\u304c\u4f4e\u4e0b\u3057\u3066\u3044\u308b\u305f\u3081\u3001\u65e9\u671f\u304b\u3089\u30a4\u30f3\u30b9\u30ea\u30f3\u6ce8\u5c04\u304c\u5fc5\u8981\u306b\u306a\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002\u80a5\u6e80\u3068\u306f\u7121\u95a2\u4fc2\u306b\u767a\u75c7\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u81b5\u5916\u5206\u6ccc\u4e0d\u5168:<\/strong> \u6d88\u5316\u9175\u7d20\u306e\u5206\u6ccc\u304c\u6e1b\u308a\u3001\u8102\u80aa\u4fbf\u306a\u3069\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u795e\u7d4c\u767a\u9054\u30fb\u7cbe\u795e\u533b\u5b66\u7684\u7279\u5fb4<\/strong><\/p>\n\n\n\n<p>\u8fd1\u5e74\u3001\u7279\u306b\u6ce8\u76ee\u3055\u308c\u3066\u3044\u308b\u75c7\u72b6\u3067\u3059\u3002\u7d0450%\u4ee5\u4e0a\u306e\u60a3\u8005\u3055\u3093\u306b\u4f55\u3089\u304b\u306e\u795e\u7d4c\u767a\u9054\u3078\u306e\u5f71\u97ff\u304c\u898b\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u767a\u9054\u9045\u6ede\u30fb\u77e5\u7684\u969c\u5bb3:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8a00\u8449\u306e\u9045\u308c\u3084\u904b\u52d5\u767a\u9054\u306e\u9045\u308c\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u77e5\u7684\u6a5f\u80fd\u306f\u6b63\u5e38\u7bc4\u56f2\u306e\u65b9\u304b\u3089\u3001\u8efd\u5ea6\u301c\u4e2d\u7b49\u5ea6\u306e\u9045\u308c\u304c\u3042\u308b\u65b9\u307e\u3067\u69d8\u3005\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u81ea\u9589\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u75c7\uff08ASD\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u793e\u4f1a\u7684\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u306e\u56f0\u96e3\u3055\u3084\u3053\u3060\u308f\u308a\u306a\u3069\u3001ASD\u306e\u7279\u6027\u3092\u6301\u3064\u983b\u5ea6\u304c\u9ad8\u3044\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u7cbe\u795e\u75be\u60a3\u306e\u30ea\u30b9\u30af:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u7d71\u5408\u5931\u8abf\u75c7\u3084\u53cc\u6975\u6027\u969c\u5bb3\u306e\u767a\u75c7\u30ea\u30b9\u30af\u304c\u4e00\u822c\u96c6\u56e3\u3088\u308a\u3082\u9ad8\u3044\u3053\u3068\u304c\u5831\u544a\u3055\u308c\u3066\u304a\u308a\u3001\u601d\u6625\u671f\u4ee5\u964d\u306e\u30e1\u30f3\u30bf\u30eb\u30d8\u30eb\u30b9\u30b1\u30a2\u304c\u91cd\u8981\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u3066\u3093\u304b\u3093:<\/strong> \u4e00\u90e8\u306e\u60a3\u8005\u3055\u3093\u3067\u3051\u3044\u308c\u3093\u767a\u4f5c\u304c\u898b\u3089\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>4. \u751f\u6b96\u5668\u306e\u7570\u5e38\uff08\u7279\u306b\u5973\u6027\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5973\u6027\uff08MRKH\u75c7\u5019\u7fa4\u69d8\u75c7\u72b6\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li><em>LHX1<\/em>\u3084<em>HNF1B<\/em>\u306e\u5f71\u97ff\u3067\u3001\u30df\u30e5\u30e9\u30fc\u7ba1\uff08\u5b50\u5bae\u3084\u81a3\u306e\u5143\u306b\u306a\u308b\u7ba1\uff09\u306e\u767a\u9054\u304c\u963b\u5bb3\u3055\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5b50\u5bae\u5947\u5f62:<\/strong> \u53cc\u89d2\u5b50\u5bae\uff08\u30cf\u30fc\u30c8\u578b\uff09\u3001\u91cd\u8907\u5b50\u5bae\u3001\u3042\u308b\u3044\u306f\u5b50\u5bae\u6b20\u640d\uff08MRKH\u75c7\u5019\u7fa4\uff1aMayer-Rokitansky-K\u00fcster-Hauser syndrome Type 2\uff09\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u3053\u308c\u306b\u3088\u308a\u3001\u7121\u6708\u7d4c\u3084\u4e0d\u598a\u75c7\u306e\u539f\u56e0\u3068\u306a\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u7537\u6027:<\/strong> \u505c\u7559\u7cbe\u5de3\u306a\u3069\u304c\u7a00\u306b\u898b\u3089\u308c\u307e\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>\u9ad8\u5c3f\u9178\u8840\u75c7\u30fb\u75db\u98a8:<\/strong> \u82e5\u3044\u3046\u3061\u304b\u3089\u5c3f\u9178\u5024\u304c\u9ad8\u304f\u306a\u308a\u3001\u75db\u98a8\u767a\u4f5c\u3092\u8d77\u3053\u3059\u3053\u3068\u304c\u3042\u308a\u307e\u3059\uff08\u814e\u6a5f\u80fd\u4f4e\u4e0b\u3068\u306f\u72ec\u7acb\u3057\u3066\u8d77\u3053\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\uff09\u3002<\/li>\n\n\n\n<li><strong>\u4f4e\u30de\u30b0\u30cd\u30b7\u30a6\u30e0\u8840\u75c7:<\/strong> \u5c3f\u4e2d\u3078\u306e\u30de\u30b0\u30cd\u30b7\u30a6\u30e0\u6392\u6cc4\u304c\u5897\u3048\u3001\u8840\u4e2d\u306e\u30de\u30b0\u30cd\u30b7\u30a6\u30e0\u6fc3\u5ea6\u304c\u4f4e\u4e0b\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>\u809d\u6a5f\u80fd\u7570\u5e38:<\/strong> \u809d\u9175\u7d20\u306e\u4e0a\u6607\u3084\u80c6\u7ba1\u306e\u7570\u5e38\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u539f\u56e0<\/strong><\/h2>\n\n\n\n<p><strong>17\u756a\u67d3\u8272\u4f53\u9577\u8155\uff0817q12\uff09\u306b\u304a\u3051\u308b\u7d041.4Mb\u306e\u5fae\u7d30\u6b20\u5931<\/strong>\u304c\u539f\u56e0\u3067\u3059\u3002<\/p>\n\n\n\n<p><strong>1. HNF1B\u306e\u30cf\u30d7\u30ed\u4e0d\u5168<\/strong><\/p>\n\n\n\n<p>\u75c7\u72b6\u306e\u5927\u90e8\u5206\uff08\u814e\u81d3\u3001\u7cd6\u5c3f\u75c5\u3001\u5c3f\u9178\u3001\u809d\u81d3\uff09\u306f\u3001\u3053\u306e\u9818\u57df\u306b\u542b\u307e\u308c\u308bHNF1B\u907a\u4f1d\u5b50\u304c\u7247\u65b9\u5931\u308f\u308c\u308b\u3053\u3068\u3067\u8aac\u660e\u304c\u3064\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<p>HNF1B\u30bf\u30f3\u30d1\u30af\u8cea\u306f\u3001\u8907\u6570\u306e\u81d3\u5668\u304c\u4f5c\u3089\u308c\u308b\u969b\u306e\u300c\u8a2d\u8a08\u56f3\u306e\u8aad\u307f\u624b\u300d\u306e\u3088\u3046\u306a\u5f79\u5272\u3092\u3057\u3066\u304a\u308a\u3001\u3053\u308c\u304c\u4e0d\u8db3\u3059\u308b\u3053\u3068\u3067\u3001\u81d3\u5668\u306e\u5f62\u304c\u3044\u3073\u3064\u306b\u306a\u3063\u305f\u308a\uff08\u56a2\u80de\u3001\u5947\u5f62\uff09\u3001\u6a5f\u80fd\u304c\u4e0d\u5341\u5206\u306b\u306a\u3063\u305f\u308a\uff08\u30a4\u30f3\u30b9\u30ea\u30f3\u4e0d\u8db3\uff09\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>2. \u767a\u751f\u6a5f\u5e8f\uff1aNAHR\uff08\u975e\u30a2\u30ea\u30eb\u9593\u540c\u6e90\u7d44\u63db\u3048\uff09<\/strong><\/p>\n\n\n\n<p>17q12\u9818\u57df\u306e\u4e21\u7aef\u306b\u306f\u3001DNA\u914d\u5217\u304c\u4e92\u3044\u306b\u3088\u304f\u4f3c\u305f\u300c\u53cd\u5fa9\u914d\u5217\uff08LCR\uff09\u300d\u304c\u5b58\u5728\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u7cbe\u5b50\u3084\u5375\u5b50\u304c\u4f5c\u3089\u308c\u308b\u969b\u3001\u3053\u306e\u4f3c\u305f\u914d\u5217\u540c\u58eb\u304c\u8aa4\u3063\u3066\u7d50\u3073\u3064\u304d\u3001\u305d\u306e\u9593\u306e\u9818\u57df\u304c\u629c\u3051\u843d\u3061\u3066\u3057\u307e\u3046\u30a8\u30e9\u30fc\uff08NAHR\uff09\u304c\u8d77\u3053\u308a\u3084\u3059\u3044\u69cb\u9020\u306b\u306a\u3063\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>3. \u907a\u4f1d\u5f62\u5f0f<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5e38\u67d3\u8272\u4f53\u9855\u6027\uff08\u512a\u6027\uff09\u907a\u4f1d:<\/strong> \u89aa\u304b\u3089\u5b50\u307850%\u306e\u78ba\u7387\u3067\u907a\u4f1d\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>De novo\uff08\u65b0\u751f\u7a81\u7136\u5909\u7570\uff09:<\/strong> \u60a3\u8005\u3055\u3093\u306e\u7d04\u534a\u6570\u306f\u3001\u4e21\u89aa\u304b\u3089\u306e\u907a\u4f1d\u3067\u306f\u306a\u304f\u3001\u7a81\u7136\u5909\u7570\u3067\u767a\u751f\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>\u5bb6\u65cf\u6027:<\/strong> \u6b8b\u308a\u306e\u534a\u6570\u306f\u3001\u89aa\u304b\u3089\u306e\u907a\u4f1d\u3067\u3059\u3002\u89aa\u81ea\u8eab\u3082\u8efd\u5ea6\u306e\u75c7\u72b6\uff08\u300c\u814e\u81d3\u306b\u5c0f\u3055\u306a\u888b\u304c\u3042\u308b\u3068\u8a00\u308f\u308c\u305f\u3053\u3068\u304c\u3042\u308b\u300d\u300c\u598a\u5a20\u7cd6\u5c3f\u75c5\u3060\u3063\u305f\u300d\u306a\u3069\uff09\u3092\u6301\u3063\u3066\u3044\u308b\u3082\u306e\u306e\u3001\u8a3a\u65ad\u3055\u308c\u3066\u3044\u306a\u3044\u30b1\u30fc\u30b9\u304c\u591a\u3005\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u8a3a\u65ad\u65b9\u6cd5<\/strong><\/h2>\n\n\n\n<p>\u300c\u814e\u81d3\u304c\u60aa\u3044\u300d\u300c\u7cd6\u5c3f\u75c5\u304c\u3042\u308b\u300d\u300c\u767a\u9054\u304c\u6c17\u306b\u306a\u308b\u300d\u306a\u3069\u3001\u5165\u308a\u53e3\u306f\u69d8\u3005\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:<\/strong>\n<ul class=\"wp-block-list\">\n<li>17q12\u9818\u57df\u306e\u5fae\u7d30\u306a\u6b20\u5931\u3092\u691c\u51fa\u3059\u308b\u6700\u3082\u78ba\u5b9f\u306a\u691c\u67fb\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u907a\u4f1d\u5b50\u30d1\u30cd\u30eb\u691c\u67fb \/ MLPA\u6cd5:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u300cMODY\uff08\u82e5\u5e74\u7cd6\u5c3f\u75c5\uff09\u300d\u3084\u300c\u814e\u56a2\u80de\u300d\u306e\u907a\u4f1d\u5b50\u691c\u67fb\u3068\u3057\u3066\u3001<em>HNF1B<\/em>\u907a\u4f1d\u5b50\u306e\u6b20\u5931\u30fb\u5909\u7570\u3092\u8abf\u3079\u308b\u969b\u306b\u767a\u898b\u3055\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\u30fb\u533b\u5b66\u7684\u7ba1\u7406<\/strong><\/h2>\n\n\n\n<p>\u6b20\u5931\u3057\u305f\u67d3\u8272\u4f53\u3092\u5143\u306b\u623b\u3059\u6cbb\u7642\u6cd5\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u75c7\u5019\u7fa4\u306e\u7ba1\u7406\u306f\u3001\u300c\u591a\u81d3\u5668\u306b\u308f\u305f\u308b\u75c7\u72b6\u3092\u3001\u305d\u308c\u305e\u308c\u306e\u5c02\u9580\u79d1\u304c\u9023\u643a\u3057\u3066\u8a3a\u3066\u3044\u304f\u3053\u3068\u300d\u304c\u4f55\u3088\u308a\u91cd\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u814e\u81d3\u306e\u7ba1\u7406\uff08\u814e\u81d3\u5185\u79d1\u30fb\u5c0f\u5150\u814e\u81d3\u79d1\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5b9a\u671f\u691c\u8a3a:<\/strong> \u5c11\u306a\u304f\u3068\u3082\u5e74\u306b1\u56de\u3001\u8840\u6db2\u691c\u67fb\uff08\u30af\u30ec\u30a2\u30c1\u30cb\u30f3\u3001eGFR\u3001\u96fb\u89e3\u8cea\u3001\u5c3f\u9178\u3001\u30de\u30b0\u30cd\u30b7\u30a6\u30e0\uff09\u3068\u5c3f\u691c\u67fb\u3001\u8840\u5727\u6e2c\u5b9a\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u753b\u50cf\u691c\u67fb:<\/strong> \u5b9a\u671f\u7684\u306b\u814e\u81d3\u8d85\u97f3\u6ce2\u691c\u67fb\u3092\u884c\u3044\u3001\u56a2\u80de\u306e\u72b6\u614b\u3084\u814e\u30b5\u30a4\u30ba\u3092\u78ba\u8a8d\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u814e\u4fdd\u8b77:<\/strong> \u814e\u6a5f\u80fd\u969c\u5bb3\u304c\u3042\u308b\u5834\u5408\u3001\u5869\u5206\u5236\u9650\u3084\u8840\u5727\u7ba1\u7406\u3001\u814e\u81d3\u306b\u8ca0\u62c5\u3092\u304b\u3051\u308b\u85ac\u5264\uff08NSAIDs\u306a\u3069\uff09\u306e\u56de\u907f\u3092\u6307\u5c0e\u3057\u307e\u3059\u3002\u672b\u671f\u814e\u4e0d\u5168\u306b\u81f3\u3063\u305f\u5834\u5408\u306f\u3001\u900f\u6790\u3084\u814e\u79fb\u690d\u304c\u884c\u308f\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u7cd6\u5c3f\u75c5\u306e\u7ba1\u7406\uff08\u7cd6\u5c3f\u75c5\u5185\u79d1\u30fb\u5185\u5206\u6ccc\u79d1\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u30e2\u30cb\u30bf\u30ea\u30f3\u30b0:<\/strong> \u5b9a\u671f\u7684\u306b\u8840\u7cd6\u5024\u3084HbA1c\u3092\u6e2c\u5b9a\u3057\u3001\u7cd6\u5c3f\u75c5\u306e\u767a\u75c7\u3092\u65e9\u671f\u306b\u6349\u3048\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6cbb\u7642:<\/strong> \u98df\u4e8b\u7642\u6cd5\u3084\u904b\u52d5\u7642\u6cd5\u304b\u3089\u59cb\u3081\u307e\u3059\u304c\u3001\u30a4\u30f3\u30b9\u30ea\u30f3\u5206\u6ccc\u4e0d\u5168\u304c\u4e3b\u4f53\u3067\u3042\u308b\u305f\u3081\u3001\u65e9\u671f\u304b\u3089\u306e\u30a4\u30f3\u30b9\u30ea\u30f3\u7642\u6cd5\u304c\u5fc5\u8981\u306b\u306a\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002\u4e00\u822c\u7684\u306a2\u578b\u7cd6\u5c3f\u75c5\u85ac\uff08\u30b9\u30eb\u30db\u30cb\u30eb\u30a6\u30ec\u30a2\u85ac\u306a\u3069\uff09\u306e\u52b9\u679c\u306f\u9650\u5b9a\u7684\u304b\u3001\u526f\u4f5c\u7528\u304c\u51fa\u3084\u3059\u3044\u5834\u5408\u304c\u3042\u308b\u305f\u3081\u3001\u5c02\u9580\u533b\u306b\u3088\u308b\u8abf\u6574\u304c\u5fc5\u8981\u3067\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u795e\u7d4c\u767a\u9054\u30fb\u7cbe\u795e\u79d1\u7684\u30b1\u30a2<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u767a\u9054\u652f\u63f4:<\/strong> \u767a\u9054\u306e\u9045\u308c\u304c\u3042\u308b\u5834\u5408\u3001\u65e9\u671f\u304b\u3089\u7642\u80b2\uff08ST\/OT\/PT\uff09\u3092\u958b\u59cb\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5b66\u7fd2\u652f\u63f4:<\/strong> \u5b66\u7fd2\u969c\u5bb3\u304c\u3042\u308b\u5834\u5408\u3001\u5b66\u6821\u3067\u306e\u914d\u616e\u3092\u6c42\u3081\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u30e1\u30f3\u30bf\u30eb\u30d8\u30eb\u30b9:<\/strong> \u601d\u6625\u671f\u4ee5\u964d\u3001\u6c17\u5206\u306e\u843d\u3061\u8fbc\u307f\u3084\u5e7b\u8074\u306a\u3069\u306e\u7cbe\u795e\u75c7\u72b6\u304c\u306a\u3044\u304b\u6ce8\u610f\u6df1\u304f\u898b\u5b88\u308a\u3001\u5fc5\u8981\u306b\u5fdc\u3058\u3066\u7cbe\u795e\u79d1\u3067\u306e\u30b1\u30a2\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>4. \u7523\u5a66\u4eba\u79d1\u7684\u7ba1\u7406<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5b50\u5bae\u5f62\u614b\u306e\u78ba\u8a8d:<\/strong> \u601d\u6625\u671f\u4ee5\u964d\u306e\u5973\u6027\u60a3\u8005\u3055\u3093\u3067\u306f\u3001\u8179\u90e8\u8d85\u97f3\u6ce2\u3084MRI\u3067\u5b50\u5bae\u3084\u81a3\u306e\u5f62\u614b\u3092\u78ba\u8a8d\u3057\u307e\u3059\u3002\u7121\u6708\u7d4c\u3084\u6708\u7d4c\u56f0\u96e3\u75c7\u304c\u3042\u308b\u5834\u5408\u306f\u65e9\u3081\u306b\u53d7\u8a3a\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u598a\u5a20\u30fb\u51fa\u7523:<\/strong> \u5b50\u5bae\u5947\u5f62\u304c\u3042\u308b\u5834\u5408\u3084\u3001\u7cd6\u5c3f\u75c5\u30fb\u814e\u75be\u60a3\u304c\u3042\u308b\u5834\u5408\u306e\u598a\u5a20\u306f\u30cf\u30a4\u30ea\u30b9\u30af\u3068\u306a\u308b\u305f\u3081\u3001\u8a08\u753b\u7684\u306a\u7ba1\u7406\u3068\u5468\u7523\u671f\u30bb\u30f3\u30bf\u30fc\u3067\u306e\u5bfe\u5fdc\u304c\u5fc5\u8981\u3067\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>5. \u305d\u306e\u4ed6\u306e\u7ba1\u7406<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u30de\u30b0\u30cd\u30b7\u30a6\u30e0\u30fb\u5c3f\u9178:<\/strong> \u4f4e\u30de\u30b0\u30cd\u30b7\u30a6\u30e0\u8840\u75c7\u304c\u3042\u308b\u5834\u5408\u306f\u30b5\u30d7\u30ea\u30e1\u30f3\u30c8\u3067\u88dc\u5145\u3057\u307e\u3059\u3002\u9ad8\u5c3f\u9178\u8840\u75c7\u304c\u3042\u308b\u5834\u5408\u306f\u5c3f\u9178\u964d\u4e0b\u85ac\u3092\u4f7f\u7528\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u809d\u6a5f\u80fd:<\/strong> \u5b9a\u671f\u7684\u306b\u809d\u9175\u7d20\u3092\u30c1\u30a7\u30c3\u30af\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>6. \u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u672c\u75be\u60a3\u306f\u300c\u6d78\u900f\u7387\u304c\u9ad8\u3044\uff08\u6b20\u5931\u304c\u3042\u308c\u3070\u4f55\u3089\u304b\u306e\u75c7\u72b6\u304c\u51fa\u3084\u3059\u3044\uff09\u300d\u4e00\u65b9\u3067\u3001\u300c\u8868\u73fe\u578b\u304c\u591a\u69d8\uff08\u75c7\u72b6\u306e\u51fa\u65b9\u306f\u4eba\u305d\u308c\u305e\u308c\uff09\u300d\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u89aa\u304c\u4fdd\u56e0\u8005\u306e\u5834\u5408\u3001\u5b50\u3078\u306e\u907a\u4f1d\u78ba\u7387\u306f50%\u3067\u3059\u304c\u3001\u89aa\u304c\u8efd\u75c7\u3067\u3082\u5b50\u304c\u91cd\u75c7\u306b\u306a\u308b\uff08\u3042\u308b\u3044\u306f\u305d\u306e\u9006\uff09\u53ef\u80fd\u6027\u3082\u3042\u308a\u307e\u3059\u3002\u3053\u306e\u70b9\u306b\u3064\u3044\u3066\u5341\u5206\u306a\u60c5\u5831\u63d0\u4f9b\u3068\u5fc3\u7406\u7684\u30b5\u30dd\u30fc\u30c8\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u307e\u3068\u3081<\/strong><\/h2>\n\n\n\n<p>17q12 deletion syndrome\u306f\u300117\u756a\u67d3\u8272\u4f53\u306e\u4e00\u90e8\u304c\u6b20\u3051\u308b\u3053\u3068\u3067\u3001\u814e\u81d3\u3001\u81b5\u81d3\uff08\u7cd6\u5c3f\u75c5\uff09\u3001\u8133\u3001\u751f\u6b96\u5668\u306a\u3069\u3001\u4f53\u306e\u69d8\u3005\u306a\u90e8\u5206\u306b\u5f71\u97ff\u304c\u51fa\u308b\u5168\u8eab\u6027\u306e\u75be\u60a3\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u300c\u7cd6\u5c3f\u75c5\u3068\u814e\u81d3\u75c5\u3068\u767a\u9054\u969c\u5bb3\u304c\u3001\u540c\u3058\u907a\u4f1d\u5b50\u306e\u539f\u56e0\u3067\u8d77\u3053\u308b\u300d\u3068\u3044\u3046\u306e\u306f\u9a5a\u304d\u304b\u3082\u3057\u308c\u307e\u305b\u3093\u304c\u3001\u3053\u308c\u306f\u907a\u4f1d\u5b50\u304c\u4f53\u306e\u8a2d\u8a08\u56f3\u3068\u3057\u3066\u8907\u6570\u306e\u5f79\u5272\u3092\u6301\u3063\u3066\u3044\u308b\u305f\u3081\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u75be\u60a3\u3068\u8a3a\u65ad\u3055\u308c\u305f\u5834\u5408\u3001\u6700\u3082\u5927\u5207\u306a\u306e\u306f\u300c\u5168\u8eab\u306e\u5b9a\u671f\u691c\u8a3a\u300d\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u75c7\u72b6\u304c\u51fa\u3066\u3044\u306a\u304f\u3066\u3082\u3001\u5b9a\u671f\u7684\u306b\u814e\u6a5f\u80fd\u3084\u8840\u7cd6\u5024\u3092\u30c1\u30a7\u30c3\u30af\u3059\u308b\u3053\u3068\u3067\u3001\u75c5\u6c17\u3092\u65e9\u671f\u306b\u767a\u898b\u3057\u3001\u9069\u5207\u306a\u6cbb\u7642\u3092\u59cb\u3081\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u307e\u305f\u3001\u3054\u672c\u4eba\u306e\u6027\u683c\u3084\u767a\u9054\u306e\u7279\u6027\u3092\u7406\u89e3\u3057\u3001\u74b0\u5883\u3092\u6574\u3048\u308b\u3053\u3068\u3082\u5927\u5207\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u533b\u7642\u30c1\u30fc\u30e0\u3068\u9023\u643a\u3057\u3001\u8eab\u4f53\u3068\u5fc3\u306e\u4e21\u9762\u304b\u3089\u9577\u671f\u7684\u306a\u5065\u5eb7\u7ba1\u7406\u3092\u7d9a\u3051\u3066\u3044\u304f\u3053\u3068\u3067\u3001\u5b89\u5b9a\u3057\u305f\u751f\u6d3b\u3092\u9001\u308b\u3053\u3068\u304c\u53ef\u80fd\u3067\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>GeneReviews\u00ae [Internet]<\/strong>: <em>HNF1B<\/em>-Related Disorder. Initial Posting: June 17, 2009; Last Update: January 13, 2022. <em>Authors: Clissold RL, et al.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203b\u672c\u75be\u60a3\u306e\u81e8\u5e8a\u30de\u30cd\u30b8\u30e1\u30f3\u30c8\u3001\u907a\u4f1d\u5b66\u3001\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u306b\u95a2\u3059\u308b\u6700\u3082\u4fe1\u983c\u3067\u304d\u308b\u5305\u62ec\u7684\u306a\u30ac\u30a4\u30c9\u30e9\u30a4\u30f3\u3002RCAD\u3084MODY5\u3082\u542b\u3081\u3066\u89e3\u8aac\u3055\u308c\u3066\u3044\u307e\u3059\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Moreno-De-Luca, D., et al.<\/strong> (2010). Deletion 17q12 is a recurrent copy number variant that confers high risk of autism and schizophrenia. <em>American Journal of Human Genetics<\/em>, 87(5), 618-630.\n<ul class=\"wp-block-list\">\n<li>(\u203b17q12\u6b20\u5931\u304c\u81ea\u9589\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u75c7\u3084\u7d71\u5408\u5931\u8abf\u75c7\u306e\u5f37\u529b\u306a\u30ea\u30b9\u30af\u56e0\u5b50\u3067\u3042\u308b\u3053\u3068\u3092\u660e\u3089\u304b\u306b\u3057\u305f\u91cd\u8981\u8ad6\u6587\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Bockenhauer, D., &amp; Jaureguiberry, G.<\/strong> (2016). HNF1B-associated clinical phenotypes: the kidney and beyond. <em>Pediatric Nephrology<\/em>.\n<ul class=\"wp-block-list\">\n<li>(\u203bHNF1B\u95a2\u9023\u75be\u60a3\u306e\u591a\u69d8\u306a\u8868\u73fe\u578b\uff08\u814e\u81d3\u3001\u4f4e\u30de\u30b0\u30cd\u30b7\u30a6\u30e0\u3001\u75db\u98a8\u306a\u3069\uff09\u306b\u3064\u3044\u3066\u306e\u8a73\u7d30\u306a\u30ec\u30d3\u30e5\u30fc\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Dubois-Laforgue, D., et al.<\/strong> (2017). Diabetes, Associated Clinical Spectrum, and Genotype-Phenotype Correlations in 201 Patients with Hepatocyte Nuclear Factor 1B (<em>HNF1B<\/em>) Mutations. <em>Diabetes Care<\/em>.\n<ul class=\"wp-block-list\">\n<li>(\u203bHNF1B\u5909\u7570\/\u6b20\u5931\u3092\u6301\u3064\u60a3\u8005201\u540d\u306e\u7cd6\u5c3f\u75c5\u304a\u3088\u3073\u5168\u8eab\u75c7\u72b6\u3092\u89e3\u6790\u3057\u305f\u5927\u898f\u6a21\u81e8\u5e8a\u7814\u7a76\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Unique (Rare Chromosome Disorder Support Group)<\/strong>: <em>17q12 microdeletions<\/em> (2018).\n<ul class=\"wp-block-list\">\n<li>(\u60a3\u8005\u5bb6\u65cf\u5411\u3051\u306e\u30ac\u30a4\u30c9\u30e9\u30a4\u30f3\u3002\u751f\u6d3b\u9762\u3067\u306e\u30a2\u30c9\u30d0\u30a4\u30b9\u304c\u5145\u5b9f\u3057\u3066\u3044\u307e\u3059\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>ClinGen Dosage Sensitivity Curation<\/strong>: <em>HNF1B<\/em> (Haploinsufficiency score: 3 &#8211; Sufficient evidence), <em>LHX1<\/em>.\n<ul class=\"wp-block-list\">\n<li>(\u907a\u4f1d\u5b50\u306e\u30cf\u30d7\u30ed\u4e0d\u5168\u3068\u75be\u60a3\u306e\u95a2\u9023\u6027\u3092\u8a55\u4fa1\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> \u3092\u3054\u89a7\u304f\u3060\u3055\u3044\u3002<\/p>","protected":false},"featured_media":0,"template":"","class_list":["post-16739","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\/16739","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening"}],"about":[{"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/types\/genetic-screening"}],"version-history":[{"count":3,"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/16739\/revisions"}],"predecessor-version":[{"id":16827,"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/16739\/revisions\/16827"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/media?parent=16739"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}