{"id":17228,"date":"2026-01-22T00:08:58","date_gmt":"2026-01-22T00:08:58","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/gene\/?post_type=genetic-screening&#038;p=17228"},"modified":"2026-01-22T00:08:58","modified_gmt":"2026-01-22T00:08:58","slug":"anophthalmia-hypothalamo-pituitaryinsufficiency-syndrome","status":"publish","type":"genetic-screening","link":"https:\/\/www.hiro-clinic.or.jp\/gene\/genetic-screening\/anophthalmia-hypothalamo-pituitaryinsufficiency-syndrome\/","title":{"rendered":"Anophthalmia-hypothalamo pituitaryinsufficiency 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><strong>SOX2\u95a2\u9023\u7121\u773c\u7403\u75c7\u5019\u7fa4\uff08SOX2-related anophthalmia syndrome\uff09<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u203b\u73fe\u5728\u3001\u533b\u5b66\u7684\u306b\u306f\u3053\u306e\u540d\u79f0\u3067\u547c\u3070\u308c\u308b\u3053\u3068\u304c\u6700\u3082\u4e00\u822c\u7684\u3067\u3059\u3002\u539f\u56e0\u907a\u4f1d\u5b50\u306b\u57fa\u3065\u3044\u305f\u5206\u985e\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>SOX2\u7121\u773c\u7403\u75c7\u5019\u7fa4\uff08SOX2 anophthalmia syndrome\uff09<\/strong><\/li>\n\n\n\n<li>\u5c0f\u773c\u7403\u75c7-\u98df\u9053\u9589\u9396\u75c7\u5019\u7fa4\uff08Microphthalmia-esophageal atresia syndrome\uff09\n<ul class=\"wp-block-list\">\n<li>\u203b\u98df\u9053\u9589\u9396\u3092\u5408\u4f75\u3059\u308b\u5834\u5408\u306e\u8a18\u8ff0\u7684\u540d\u79f0\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li>AEG\u75c7\u5019\u7fa4\uff08Anophthalmia-Esophageal-Genital syndrome\uff09\n<ul class=\"wp-block-list\">\n<li>\u203b\u7121\u773c\u7403\u3001\u98df\u9053\u9589\u9396\u3001\u6027\u5668\u7570\u5e38\u306e3\u5fb4\u5019\u3092\u5448\u3059\u308b\u5834\u5408\u306e\u540d\u79f0\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li>\u95a2\u9023\uff1a\u4e2d\u9694\u8996\u795e\u7d4c\u5f62\u6210\u4e0d\u5168\u75c7\uff08Septo-optic dysplasia; SOD\uff09\n<ul class=\"wp-block-list\">\n<li>\u203b\u75c7\u72b6\u304c\u4e00\u90e8\u91cd\u8907\u3057\u307e\u3059\u304c\u3001\u5225\u306e\u75be\u60a3\u7fa4\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 \u9577\u8155\uff08q\uff0926.33\u9818\u57df<\/strong><\/p>\n\n\n\n<p>\u672c\u75be\u60a3\u306f\u3001\u30d2\u30c8\u306e3\u756a\u67d3\u8272\u4f53\u306e\u9577\u8155\uff08q\u30a2\u30fc\u30e0\uff09\u306e\u300c26.33\u300d\u3068\u547c\u3070\u308c\u308b\u30d0\u30f3\u30c9\u9818\u57df\u306b\u4f4d\u7f6e\u3059\u308b\u3001<strong>SOX2\u907a\u4f1d\u5b50<\/strong>\u306e\u5909\u7570\u307e\u305f\u306f\u6b20\u5931\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3010\u30b2\u30ce\u30e0\u4e0a\u306e\u8a73\u7d30\u3068SOX2\u907a\u4f1d\u5b50\u306e\u5f79\u5272\u3011<\/p>\n\n\n\n<p>SOX2\uff08SRY-box transcription factor 2\uff09\u907a\u4f1d\u5b50\u306f\u3001\u5358\u306a\u308b\u4e00\u3064\u306e\u90e8\u54c1\u3092\u4f5c\u308b\u907a\u4f1d\u5b50\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u80ce\u5150\u304c\u767a\u751f\u3059\u308b\u6975\u3081\u3066\u521d\u671f\u306e\u6bb5\u968e\u3067\u3001\u300c\u3053\u3053\u306f\u773c\u306b\u306a\u308c\u300d\u300c\u3053\u3053\u306f\u8133\u306e\u524d\u306e\u65b9\uff08\u524d\u8133\uff09\u306b\u306a\u308c\u300d\u300c\u3053\u3053\u306f\u98df\u9053\u306b\u306a\u308c\u300d\u3068\u3044\u3063\u305f\u6307\u4ee4\u3092\u51fa\u3059\u3001\u975e\u5e38\u306b\u5f37\u529b\u306a**\u8ee2\u5199\u56e0\u5b50\uff08\u30de\u30b9\u30bf\u30fc\u30ec\u30ae\u30e5\u30ec\u30fc\u30bf\u30fc\uff09**\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u907a\u4f1d\u5b50\u306f\u3001ES\u7d30\u80de\u3084iPS\u7d30\u80de\u306e\u6a39\u7acb\u306b\u3082\u4f7f\u308f\u308c\u308b\u307b\u3069\u3001\u7d30\u80de\u306e\u904b\u547d\u6c7a\u5b9a\u3084\u4e07\u80fd\u6027\u306e\u7dad\u6301\u306b\u4e0d\u53ef\u6b20\u306a\u3082\u306e\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3057\u305f\u304c\u3063\u3066\u3001\u3053\u306e\u9818\u57df\u306b\u7570\u5e38\u304c\u751f\u3058\u308b\u3068\u3001\u773c\u3084\u8133\u3068\u3044\u3063\u305f\u7279\u5b9a\u306e\u5668\u5b98\u3060\u3051\u3067\u306a\u304f\u3001\u767a\u751f\u5b66\u7684\u306b\u95a2\u9023\u3059\u308b\u8907\u6570\u306e\u5668\u5b98\u306b\u540c\u6642\u306b\u5f62\u6210\u4e0d\u5168\u304c\u8d77\u3053\u308b\u306e\u3067\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u767a\u751f\u983b\u5ea6<\/strong><\/h2>\n\n\n\n<p><strong>\u7a00\uff08Rare\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\u304c\u3001\u975e\u5e38\u306b\u5e0c\u5c11\u306a\u75be\u60a3\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u7121\u773c\u7403\u30fb\u5c0f\u773c\u7403\u75c7\u5168\u4f53:<\/strong> \u51fa\u751f10,000\u4eba\u306b1\u301c2\u4eba\u7a0b\u5ea6\u3068\u8a00\u308f\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u305d\u306e\u5185\u8a33:<\/strong> \u4e21\u773c\u6027\u306e\u91cd\u5ea6\u7121\u773c\u7403\u30fb\u5c0f\u773c\u7403\u75c7\u306e\u60a3\u8005\u3055\u3093\u306e\u3046\u3061\u3001\u7d0410\u301c15%\u304c<em>SOX2<\/em>\u907a\u4f1d\u5b50\u306e\u7570\u5e38\uff08\u672c\u75c7\u5019\u7fa4\uff09\u3067\u3042\u308b\u3068\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u63a8\u5b9a\u983b\u5ea6:<\/strong> \u51fa\u751f250,000\u4eba\u306b1\u4eba\u7a0b\u5ea6\u306e\u983b\u5ea6\u3068\u63a8\u5b9a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p>\u6027\u5225\u306b\u3088\u308b\u767a\u751f\u983b\u5ea6\u306e\u5dee\u306f\u660e\u78ba\u306b\u306f\u3042\u308a\u307e\u305b\u3093\u304c\u3001\u6027\u817a\u6a5f\u80fd\u4e0d\u5168\uff08\u7279\u306b\u7537\u5150\u306e\u6027\u5668\u767a\u80b2\u4e0d\u5168\uff09\u3092\u4f34\u3046\u305f\u3081\u3001\u767a\u898b\u306e\u5951\u6a5f\u3084\u75c7\u72b6\u306e\u51fa\u65b9\u306b\u7537\u5973\u5dee\u304c\u3042\u308b\u3088\u3046\u306b\u898b\u3048\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u81e8\u5e8a\u7684\u7279\u5fb4\uff08\u75c7\u72b6\uff09<\/strong><\/h2>\n\n\n\n<p>Anophthalmia-hypothalamo pituitary insufficiency syndrome\u306e\u75c7\u72b6\u306f\u3001\u75be\u60a3\u540d\u306e\u901a\u308a**\u300c\u773c\u300d\u3068\u300c\u5185\u5206\u6ccc\uff08\u30db\u30eb\u30e2\u30f3\uff09\u300d\u304c\u4e8c\u5927\u7279\u5fb4\u3067\u3059\u304c\u3001\u305d\u308c\u4ee5\u5916\u306b\u3082\u300c\u8133\u795e\u7d4c\u7cfb\u300d\u300c\u6d88\u5316\u5668\u300d\u300c\u6027\u5668\u300d**\u306a\u3069\u591a\u5c90\u306b\u308f\u305f\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u75c7\u72b6\u306e\u91cd\u75c7\u5ea6\u306f\u3001\u5168\u304f\u540c\u3058\u907a\u4f1d\u5b50\u5909\u7570\u3092\u6301\u3063\u3066\u3044\u3066\u3082\u500b\u4eba\u5dee\u304c\u5927\u304d\u3044\uff08\u8868\u73fe\u578b\u306e\u591a\u69d8\u6027\u304c\u3042\u308b\uff09\u3053\u3068\u304c\u7279\u5fb4\u3067\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u773c\u306e\u75c7\u72b6\uff08Ocular features\uff09<\/strong><\/p>\n\n\n\n<p>\u672c\u75c7\u5019\u7fa4\u306e\u6700\u3082\u4e2d\u6838\u7684\u306a\u75c7\u72b6\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u7121\u773c\u7403\u75c7\uff08Anophthalmia\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u773c\u7403\u306e\u7d44\u7e54\u304c\u5168\u304f\u5b58\u5728\u3057\u306a\u3044\u3001\u3042\u308b\u3044\u306f\u75d5\u8de1\u7a0b\u5ea6\u3057\u304b\u78ba\u8a8d\u3067\u304d\u306a\u3044\u72b6\u614b\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u5c0f\u773c\u7403\u75c7\uff08Microphthalmia\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u773c\u7403\u306f\u5b58\u5728\u3059\u308b\u3082\u306e\u306e\u3001\u30b5\u30a4\u30ba\u304c\u6b63\u5e38\u3088\u308a\u3082\u5c0f\u3055\u3044\u72b6\u614b\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u4e21\u773c\u6027 vs \u7247\u773c\u6027:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u591a\u304f\u306e\u75c7\u4f8b\u3067<strong>\u4e21\u773c\u6027<\/strong>\uff08\u4e21\u65b9\u306e\u773c\u306b\u5f71\u97ff\u304c\u51fa\u308b\uff09\u3067\u3059\u304c\u3001\u5de6\u53f3\u3067\u7a0b\u5ea6\u304c\u7570\u306a\u308b\uff08\u7247\u65b9\u306f\u7121\u773c\u7403\u3001\u3082\u3046\u7247\u65b9\u306f\u5c0f\u773c\u7403\u306a\u3069\uff09\u3053\u3068\u3084\u3001\u7a00\u306b\u7247\u773c\u306e\u307f\u306e\u5834\u5408\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u8996\u529b:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u91cd\u5ea6\u306e\u7121\u773c\u7403\u30fb\u5c0f\u773c\u7403\u306e\u5834\u5408\u3001\u8996\u529b\u306f\u5931\u308f\u308c\u3066\u3044\u308b\u304b\u3001\u5149\u3092\u611f\u3058\u308b\u7a0b\u5ea6\uff08\u5149\u899a\u5f01\uff09\u306e\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u8efd\u5ea6\u306e\u5c0f\u773c\u7403\u3084\u3001\u30b3\u30ed\u30dc\u30fc\u30de\uff08\u773c\u306e\u7d44\u7e54\u306e\u4e00\u90e8\u6b20\u640d\uff09\u306e\u307f\u306e\u5834\u5408\u306f\u3001\u3042\u308b\u7a0b\u5ea6\u306e\u8996\u529b\u304c\u4fdd\u305f\u308c\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u8996\u5e8a\u4e0b\u90e8\u30fb\u4e0b\u5782\u4f53\u6a5f\u80fd\u4e0d\u5168\uff08Endocrine features\uff09<\/strong><\/p>\n\n\n\n<p>\u773c\u306e\u7570\u5e38\u306b\u6b21\u3044\u3067\u9ad8\u983b\u5ea6\u306b\u898b\u3089\u308c\u308b\u3001\u751f\u547d\u4e88\u5f8c\u306b\u95a2\u308f\u308b\u91cd\u8981\u306a\u5408\u4f75\u75c7\u3067\u3059\u3002\u8133\u306e\u5965\u306b\u3042\u308b\u30db\u30eb\u30e2\u30f3\u306e\u53f8\u4ee4\u5854\uff08\u4e0b\u5782\u4f53\u30fb\u8996\u5e8a\u4e0b\u90e8\uff09\u304c\u6b63\u3057\u304f\u5f62\u6210\u3055\u308c\u306a\u3044\u3053\u3068\u3067\u8d77\u3053\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u6210\u9577\u30db\u30eb\u30e2\u30f3\uff08GH\uff09\u5206\u6ccc\u4e0d\u5168:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u4f4e\u8eab\u9577\u306e\u539f\u56e0\u3068\u306a\u308a\u307e\u3059\u3002\u6cbb\u7642\u3092\u884c\u308f\u306a\u3044\u3068\u8457\u3057\u3044\u4f4e\u8eab\u9577\u3068\u306a\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u6027\u817a\u523a\u6fc0\u30db\u30eb\u30e2\u30f3\uff08LH\/FSH\uff09\u5206\u6ccc\u4e0d\u5168:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u4f4e\u30b4\u30ca\u30c9\u30c8\u30ed\u30d4\u30f3\u6027\u6027\u817a\u6a5f\u80fd\u4f4e\u4e0b\u75c7\u3092\u5f15\u304d\u8d77\u3053\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u7537\u5150:<\/strong> \u5c0f\u9670\u830e\uff08\u30de\u30a4\u30af\u30ed\u30da\u30cb\u30b9\uff09\u3001\u505c\u7559\u7cbe\u5de3\uff08\u30bf\u30de\u304c\u964d\u308a\u3066\u3053\u306a\u3044\uff09\u3002<\/li>\n\n\n\n<li><strong>\u601d\u6625\u671f:<\/strong> \u7b2c\u4e8c\u6b21\u6027\u5fb4\uff08\u58f0\u5909\u308f\u308a\u3001\u4e73\u623f\u767a\u80b2\u3001\u6708\u7d4c\u306a\u3069\uff09\u304c\u6765\u306a\u3044\u3001\u3042\u308b\u3044\u306f\u9045\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u7532\u72b6\u817a\u523a\u6fc0\u30db\u30eb\u30e2\u30f3\uff08TSH\uff09\u5206\u6ccc\u4e0d\u5168:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u4e2d\u67a2\u6027\u7532\u72b6\u817a\u6a5f\u80fd\u4f4e\u4e0b\u75c7\u3068\u306a\u308a\u307e\u3059\u3002\u5143\u6c17\u304c\u306a\u3044\u3001\u5bd2\u304c\u308a\u3001\u4fbf\u79d8\u3001\u767a\u9054\u306e\u9045\u308c\u306a\u3069\u306e\u539f\u56e0\u306b\u306a\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u526f\u814e\u76ae\u8cea\u523a\u6fc0\u30db\u30eb\u30e2\u30f3\uff08ACTH\uff09\u5206\u6ccc\u4e0d\u5168:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u526f\u814e\u4e0d\u5168\u3068\u306a\u308a\u307e\u3059\u3002\u30b9\u30c8\u30ec\u30b9\u6642\u306b\u5fc5\u8981\u306a\u30b3\u30eb\u30c1\u30be\u30fc\u30eb\u304c\u51fa\u305b\u306a\u3044\u305f\u3081\u3001\u767a\u71b1\u6642\u306a\u3069\u306b\u30b7\u30e7\u30c3\u30af\u72b6\u614b\uff08\u526f\u814e\u30af\u30ea\u30fc\u30bc\uff09\u306b\u306a\u308b\u30ea\u30b9\u30af\u304c\u3042\u308a\u3001\u751f\u547d\u306b\u95a2\u308f\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u795e\u7d4c\u5b66\u7684\u7279\u5fb4\u30fb\u767a\u9054\uff08Neurological features\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u8133\u306e\u69cb\u9020\u7570\u5e38:<\/strong>\n<ul class=\"wp-block-list\">\n<li>MRI\u691c\u67fb\u3092\u884c\u3046\u3068\u3001\u4e0b\u5782\u4f53\u306e\u4f4e\u5f62\u6210\u4ee5\u5916\u306b\u3082\u7570\u5e38\u304c\u898b\u3064\u304b\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u8133\u6881\u6b20\u640d\u30fb\u4f4e\u5f62\u6210\uff08\u53f3\u8133\u3068\u5de6\u8133\u3092\u3064\u306a\u3050\u6a4b\u304c\u306a\u3044\uff09\u3002<\/li>\n\n\n\n<li>\u6d77\u99ac\u306e\u7570\u5e38\uff08\u8a18\u61b6\u306b\u95a2\u308f\u308b\u90e8\u5206\uff09\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u767a\u9054\u9045\u6ede\u30fb\u77e5\u7684\u969c\u5bb3:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8efd\u5ea6\u304b\u3089\u91cd\u5ea6\u307e\u3067\u5e45\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u8996\u899a\u969c\u5bb3\u306b\u3088\u308b\u904b\u52d5\u767a\u9054\u306e\u9045\u308c\uff08\u9996\u3059\u308f\u308a\u3084\u6b69\u884c\u306e\u9045\u308c\uff09\u306b\u52a0\u3048\u3066\u3001\u5b66\u7fd2\u969c\u5bb3\u3084\u77e5\u7684\u969c\u5bb3\u3092\u4f34\u3046\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u305f\u3060\u3057\u3001\u6b63\u5e38\u306a\u77e5\u80fd\u3092\u6301\u3061\u3001\u5927\u5b66\u3078\u9032\u5b66\u3057\u81ea\u7acb\u3057\u305f\u751f\u6d3b\u3092\u9001\u308b\u60a3\u8005\u3055\u3093\u3082\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u3066\u3093\u304b\u3093:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u4e00\u90e8\u306e\u60a3\u8005\u3055\u3093\u3067\u3051\u3044\u308c\u3093\u767a\u4f5c\u3092\u5408\u4f75\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>4. \u6d88\u5316\u5668\u306e\u75c7\u72b6<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u98df\u9053\u9589\u9396\u75c7\uff08Esophageal atresia\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u751f\u307e\u308c\u3064\u304d\u98df\u9053\u304c\u9014\u5207\u308c\u3066\u3044\u308b\u72b6\u614b\u3067\u3059\u3002\u6c17\u7ba1\u98df\u9053\u763b\uff08\u6c17\u7ba1\u3068\u98df\u9053\u304c\u3064\u306a\u304c\u3063\u3066\u3044\u308b\uff09\u3092\u4f34\u3046\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u30df\u30eb\u30af\u304c\u98f2\u3081\u306a\u3044\u305f\u3081\u3001\u51fa\u751f\u76f4\u5f8c\u306b\u624b\u8853\u304c\u5fc5\u8981\u3068\u306a\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><em>SOX2<\/em>\u5909\u7570\u3092\u6301\u3064\u60a3\u8005\u3055\u3093\u306e<strong>\u7d04\u534a\u6570<\/strong>\u306b\u898b\u3089\u308c\u308b\u7279\u5fb4\u7684\u306a\u5408\u4f75\u75c7\u3067\u3042\u308a\u3001\u773c\u306e\u7570\u5e38\u3068\u98df\u9053\u9589\u9396\u304c\u5408\u4f75\u3057\u3066\u3044\u308b\u5834\u5408\u306f\u3001\u672c\u75c7\u5019\u7fa4\u304c\u5f37\u304f\u7591\u308f\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/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>\u5916\u6027\u5668\u7570\u5e38:<\/strong> \u7537\u5150\u306e\u5c0f\u9670\u830e\u3084\u505c\u7559\u7cbe\u5de3\u306f\u3001\u30db\u30eb\u30e2\u30f3\u4e0d\u8db3\u3060\u3051\u3067\u306a\u304f\u3001\u6027\u5668\u5f62\u6210\u305d\u306e\u3082\u306e\u306e\u969c\u5bb3\u3068\u3057\u3066\u3082\u73fe\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u96e3\u8074:<\/strong> \u611f\u97f3\u6027\u96e3\u8074\u3002<\/li>\n\n\n\n<li><strong>\u9aa8\u683c:<\/strong> \u5074\u5f2f\u75c7\u306a\u3069\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\uff083q26.33\uff09\u306b\u3042\u308bSOX2\u907a\u4f1d\u5b50\u306e\u7570\u5e38<\/strong>\u304c\u539f\u56e0\u3067\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u30cf\u30d7\u30ed\u4e0d\u5168\uff08Haploinsufficiency\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u30d2\u30c8\u306f\u901a\u5e38\u3001\u907a\u4f1d\u5b50\u30922\u30bb\u30c3\u30c8\uff08\u7236\u65b9\u30fb\u6bcd\u65b9\uff09\u6301\u3063\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u672c\u75c7\u5019\u7fa4\u306f\u30012\u3064\u306e<em>SOX2<\/em>\u907a\u4f1d\u5b50\u306e\u3046\u3061\u3001\u7247\u65b9\u304c\u6b20\u5931\u3057\u305f\u308a\u3001\u5909\u7570\u306b\u3088\u3063\u3066\u6a5f\u80fd\u3057\u306a\u304f\u306a\u3063\u305f\u308a\u3059\u308b\u3053\u3068\u3067\u767a\u75c7\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u6b8b\u3063\u305f1\u3064\u306e\u6b63\u5e38\u306a\u907a\u4f1d\u5b50\u3060\u3051\u3067\u306f\u3001<em>SOX2<\/em>\u30bf\u30f3\u30d1\u30af\u8cea\u306e\u91cf\u304c\u8db3\u308a\u305a\uff08\u30cf\u30d7\u30ed\u4e0d\u5168\uff09\u3001\u773c\u3084\u8133\u3068\u3044\u3063\u305f\u8907\u96d1\u306a\u5668\u5b98\u3092\u6b63\u3057\u304f\u4f5c\u308a\u4e0a\u3052\u308b\u3053\u3068\u304c\u3067\u304d\u306a\u304f\u306a\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\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u307b\u3068\u3093\u3069\u306e\u75c7\u4f8b\u306f\u3001\u4e21\u89aa\u304b\u3089\u306e\u907a\u4f1d\u3067\u306f\u306a\u304f\u3001\u53d7\u7cbe\u306e\u904e\u7a0b\uff08\u7cbe\u5b50\u3084\u5375\u5b50\u304c\u4f5c\u3089\u308c\u308b\u6642\u3001\u307e\u305f\u306f\u53d7\u7cbe\u76f4\u5f8c\uff09\u3067\u5076\u7136\u751f\u3058\u305f<strong>\u7a81\u7136\u5909\u7570<\/strong>\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u89aa\u306e\u5e74\u9f62\u3084\u598a\u5a20\u4e2d\u306e\u74b0\u5883\u304c\u539f\u56e0\u3067\u8d77\u3053\u308b\u3082\u306e\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u6027\u817a\u30e2\u30b6\u30a4\u30af:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u6975\u3081\u3066\u7a00\u3067\u3059\u304c\u3001\u5065\u5eb7\u306a\u89aa\u306e\u7cbe\u5b50\u3084\u5375\u5b50\u306e\u4e00\u90e8\u306b\u306e\u307f\u5909\u7570\u304c\u5b58\u5728\u3057\u3001\u304d\u3087\u3046\u3060\u3044\u3067\u767a\u75c7\u3059\u308b\uff08\u5bb6\u65cf\u5185\u767a\u75c7\uff09\u4f8b\u3082\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u306a\u305c\u300c\u773c\u300d\u3068\u300c\u4e0b\u5782\u4f53\u300d\u3068\u300c\u98df\u9053\u300d\u306a\u306e\u304b\uff1f<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u80ce\u5150\u306e\u3054\u304f\u521d\u671f\uff08\u795e\u7d4c\u677f\u3084\u524d\u8178\u304c\u4f5c\u3089\u308c\u308b\u6642\u671f\uff09\u306b\u304a\u3044\u3066\u3001<em>SOX2<\/em>\u306f\u3053\u308c\u3089\u5168\u3066\u306e\u5668\u5b98\u306e\u300c\u539f\u5668\u300d\u3068\u306a\u308b\u9818\u57df\u3067\u767a\u73fe\u3057\u3001\u7d30\u80de\u306e\u5206\u5316\u3092\u6307\u4ee4\u3057\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u7279\u306b\u3001\u773c\u3068\u8996\u5e8a\u4e0b\u90e8\u30fb\u4e0b\u5782\u4f53\u306f\u3001\u767a\u751f\u5b66\u7684\u306b\u300c\u524d\u8133\u300d\u3068\u3044\u3046\u540c\u3058\u9818\u57df\u304b\u3089\u5206\u304b\u308c\u3066\u3067\u304d\u308b\u305f\u3081\u3001\u30bb\u30c3\u30c8\u3067\u969c\u5bb3\u3055\u308c\u3084\u3059\u3044\u306e\u3067\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u8a3a\u65ad\u65b9\u6cd5<\/strong><\/h2>\n\n\n\n<p>\u300c\u7121\u773c\u7403\u30fb\u5c0f\u773c\u7403\u300d\u306b\u52a0\u3048\u3001\u300c\u5168\u8eab\u306e\u5408\u4f75\u75c7\u300d\u3092\u8a55\u4fa1\u3057\u3001\u907a\u4f1d\u5b66\u7684\u691c\u67fb\u3067\u78ba\u5b9a\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u773c\u79d1\u7684\u691c\u67fb:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u7d30\u9699\u706f\u9855\u5fae\u93e1\u691c\u67fb\u3001\u773c\u5e95\u691c\u67fb\u306a\u3069\u3067\u773c\u7403\u306e\u72b6\u614b\u3092\u78ba\u8a8d\u3057\u307e\u3059\u3002\u773c\u7403\u304c\u306a\u3044\u5834\u5408\u3001\u773c\u7aa9\uff08\u773c\u304c\u5165\u308b\u9aa8\u306e\u7aaa\u307f\uff09\u306e\u72b6\u614b\u3082\u78ba\u8a8d\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u753b\u50cf\u691c\u67fb\uff08MRI \/ CT\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>\u982d\u90e8MRI:<\/strong> \u5fc5\u9808\u306e\u691c\u67fb\u3067\u3059\u3002\u773c\u7403\u306e\u6709\u7121\u3060\u3051\u3067\u306a\u304f\u3001\u8996\u795e\u7d4c\u306e\u4f4e\u5f62\u6210\u3001\u4e0b\u5782\u4f53\u306e\u6b20\u640d\u3084\u4f4e\u5f62\u6210\u3001\u8133\u6881\u6b20\u640d\u306a\u3069\u306e\u8133\u69cb\u9020\u7570\u5e38\u3092\u8a73\u7d30\u306b\u8a55\u4fa1\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u5185\u5206\u6ccc\u5b66\u7684\u691c\u67fb:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8840\u6db2\u691c\u67fb\u3067\u5404\u7a2e\u30db\u30eb\u30e2\u30f3\uff08GH, TSH, Free T4, ACTH, \u30b3\u30eb\u30c1\u30be\u30fc\u30eb, LH, FSH, \u6027\u30db\u30eb\u30e2\u30f3\u306a\u3069\uff09\u306e\u5024\u3092\u6e2c\u5b9a\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u8ca0\u8377\u8a66\u9a13\u3092\u884c\u3044\u3001\u30db\u30eb\u30e2\u30f3\u306e\u4e88\u5099\u80fd\u529b\u3092\u8abf\u3079\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u907a\u4f1d\u5b66\u7684\u691c\u67fb:<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>\u30b7\u30fc\u30af\u30a8\u30f3\u30b9\u89e3\u6790:<\/strong> <em>SOX2<\/em>\u907a\u4f1d\u5b50\u306e\u5869\u57fa\u914d\u5217\u3092\u8aad\u307f\u53d6\u308a\u3001\u5909\u7570\u304c\u306a\u3044\u304b\u8abf\u3079\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u67d3\u8272\u4f53\u691c\u67fb \/ FISH\u6cd5:<\/strong> <em>SOX2<\/em>\u907a\u4f1d\u5b50\u3092\u542b\u3080\u9818\u57df\u306e\u5fae\u5c0f\u6b20\u5931\u304c\u306a\u3044\u304b\u8abf\u3079\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u3053\u308c\u3089\u306b\u3088\u308a\u3001<em>SOX2<\/em>\u7570\u5e38\u304c\u78ba\u8a8d\u3055\u308c\u308c\u3070\u78ba\u5b9a\u8a3a\u65ad\u3068\u306a\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>\u6839\u672c\u7684\u306a\u907a\u4f1d\u5b50\u6cbb\u7642\u6cd5\u306f\u307e\u3060\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u6cbb\u7642\u306f\u3001\u305d\u308c\u305e\u308c\u306e\u75c7\u72b6\u306b\u5bfe\u3059\u308b\u5bfe\u75c7\u7642\u6cd5\u3068\u3001\u751f\u6d3b\u306e\u8cea\uff08QOL\uff09\u3092\u5411\u4e0a\u3055\u305b\u308b\u305f\u3081\u306e\u591a\u8077\u7a2e\u306b\u3088\u308b\u30b5\u30dd\u30fc\u30c8\u304c\u4e2d\u5fc3\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u773c\u79d1\u30fb\u5f62\u6210\u5916\u79d1\u7684\u6cbb\u7642<\/strong><\/p>\n\n\n\n<p><strong>\u898b\u305f\u76ee\u306e\u5f62\u6210\u3068\u9854\u9762\u9aa8\u306e\u767a\u80b2\u306e\u305f\u3081\u306b\u91cd\u8981\u3067\u3059\u3002<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u7fa9\u773c\uff08Prosthetics\uff09\u306e\u88c5\u7740:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u7121\u773c\u7403\u3084\u6975\u5ea6\u306e\u5c0f\u773c\u7403\u306e\u5834\u5408\u3001\u773c\u7aa9\uff08\u773c\u306e\u304f\u307c\u307f\uff09\u304c\u6210\u9577\u305b\u305a\u3001\u9854\u9762\u306e\u9aa8\u683c\u5909\u5f62\u3092\u62db\u304f\u6050\u308c\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u4e73\u5150\u671f\u65e9\u671f\u304b\u3089\u3001\u6bb5\u968e\u7684\u306b\u30b5\u30a4\u30ba\u306e\u5927\u304d\u306a\u300c\u30b3\u30f3\u30d5\u30a9\u30fc\u30de\u30fc\uff08\u7fa9\u773c\u53f0\uff09\u300d\u3084\u7fa9\u773c\u3092\u88c5\u7740\u3057\u3001\u7269\u7406\u7684\u306b\u773c\u7aa9\u3092\u5e83\u3052\u3066\u3044\u304f\u6cbb\u7642\uff08\u30bd\u30b1\u30c3\u30c8\u30fb\u30a8\u30af\u30b9\u30d1\u30f3\u30b7\u30e7\u30f3\uff09\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u3053\u308c\u306b\u3088\u308a\u3001\u5c06\u6765\u7684\u306b\u81ea\u7136\u306a\u9854\u8c8c\u3092\u7372\u5f97\u3059\u308b\u3053\u3068\u3092\u76ee\u6307\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u5185\u5206\u6ccc\u5b66\u7684\u6cbb\u7642\uff08\u30db\u30eb\u30e2\u30f3\u88dc\u5145\u7642\u6cd5\uff09<\/strong><\/p>\n\n\n\n<p><strong>\u751f\u547d\u7dad\u6301\u3068\u6210\u9577\u306e\u305f\u3081\u306b\u4e0d\u53ef\u6b20\u3067\u3059\u3002<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u6210\u9577\u30db\u30eb\u30e2\u30f3\u7642\u6cd5:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u6210\u9577\u30db\u30eb\u30e2\u30f3\u5206\u6ccc\u4e0d\u5168\u6027\u4f4e\u8eab\u9577\u75c7\u306b\u5bfe\u3057\u3066\u3001\u6ce8\u5c04\u306b\u3088\u308b\u88dc\u5145\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u7532\u72b6\u817a\u30db\u30eb\u30e2\u30f3\u88dc\u5145:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u30c1\u30e9\u30fc\u30c2\u30f3\u306a\u3069\u306e\u5185\u670d\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u526f\u814e\u76ae\u8cea\u30db\u30eb\u30e2\u30f3\uff08\u30b9\u30c6\u30ed\u30a4\u30c9\uff09\u88dc\u5145:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u30b3\u30fc\u30c8\u30ea\u30eb\u306a\u3069\u3092\u5185\u670d\u3057\u307e\u3059\u3002\u7279\u306b\u767a\u71b1\u6642\u3084\u624b\u8853\u6642\u306a\u3069\u306e\u30b9\u30c8\u30ec\u30b9\u6642\u306b\u306f\u5897\u91cf\u304c\u5fc5\u8981\uff08\u30b7\u30c3\u30af\u30c7\u30a4\u30fb\u30eb\u30fc\u30eb\uff09\u3067\u3042\u308a\u3001\u3054\u5bb6\u65cf\u3078\u306e\u6307\u5c0e\u304c\u91cd\u8981\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u6027\u30db\u30eb\u30e2\u30f3\u88dc\u5145:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u601d\u6625\u671f\u306e\u6642\u671f\u306b\u5408\u308f\u305b\u3066\u3001\u6027\u30db\u30eb\u30e2\u30f3\u3092\u88dc\u5145\u3057\u3001\u4e8c\u6b21\u6027\u5fb4\u3092\u8a98\u5c0e\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u5916\u79d1\u7684\u6cbb\u7642<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u98df\u9053\u9589\u9396\u306e\u624b\u8853:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u5408\u4f75\u304c\u3042\u308b\u5834\u5408\u3001\u51fa\u751f\u76f4\u5f8c\u306b\u7dca\u6025\u624b\u8853\u3092\u884c\u3044\u3001\u98df\u9053\u3092\u3064\u306a\u304e\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u505c\u7559\u7cbe\u5de3\u306e\u624b\u8853:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u7cbe\u5de3\u56fa\u5b9a\u8853\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>4. \u767a\u9054\u30fb\u7642\u80b2\u7684\u652f\u63f4<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u8996\u899a\u969c\u5bb3\u5150\u6559\u80b2:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8996\u529b\u304c\u4f4e\u3044\u3001\u3042\u308b\u3044\u306f\u5168\u304f\u898b\u3048\u306a\u3044\u5834\u5408\u3001\u65e9\u671f\u304b\u3089\u300c\u76f2\u5b66\u6821\uff08\u8996\u899a\u652f\u63f4\u5b66\u6821\uff09\u300d\u306e\u4e73\u5e7c\u5150\u76f8\u8ac7\u306a\u3069\u3092\u5229\u7528\u3057\u3001\u89e6\u899a\u3084\u8074\u899a\u3092\u4f7f\u3063\u305f\u8a8d\u77e5\u767a\u9054\u3092\u4fc3\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u300c\u898b\u3048\u306a\u3044\u4e16\u754c\u300d\u3067\u306e\u7a7a\u9593\u628a\u63e1\u3084\u79fb\u52d5\uff08\u767d\u6756\u6b69\u884c\u306a\u3069\uff09\u3001\u70b9\u5b57\u306e\u7fd2\u5f97\u306a\u3069\u3092\u30b5\u30dd\u30fc\u30c8\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u7642\u80b2\uff08PT\/OT\/ST\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u5168\u4f53\u7684\u306a\u767a\u9054\u306e\u9045\u308c\u306b\u5bfe\u3057\u3001\u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>5. \u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u60c5\u5831\u306e\u6574\u7406:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u975e\u5e38\u306b\u7a00\u306a\u75be\u60a3\u3067\u3042\u308a\u3001\u3054\u5bb6\u65cf\u306e\u4e0d\u5b89\u306f\u5927\u304d\u3044\u3067\u3059\u3002\u4e88\u5f8c\u306b\u306f\u500b\u4eba\u5dee\u304c\u3042\u308b\u3053\u3068\u3001\u9069\u5207\u306a\u7ba1\u7406\u3067\u5143\u6c17\u306b\u751f\u6d3b\u3067\u304d\u308b\u3053\u3068\u3092\u4f1d\u3048\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u5bb6\u65cf\u3078\u306e\u652f\u63f4:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u6b21\u5b50\u518d\u767a\u30ea\u30b9\u30af\uff08\u901a\u5e38\u306f\u4f4e\u3044\u304c\u30bc\u30ed\u3067\u306f\u306a\u3044\uff09\u306b\u3064\u3044\u3066\u6b63\u78ba\u306a\u60c5\u5831\u3092\u63d0\u4f9b\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u307e\u3068\u3081<\/strong><\/h2>\n\n\n\n<p>Anophthalmia-hypothalamo pituitary insufficiency syndrome\uff08\u7121\u773c\u7403-\u8996\u5e8a\u4e0b\u90e8-\u4e0b\u5782\u4f53\u6a5f\u80fd\u4e0d\u5168\u75c7\u5019\u7fa4\uff09\u306f\u3001\u773c\u306e\u5f62\u6210\u3068\u30db\u30eb\u30e2\u30f3\u306e\u8abf\u6574\u5f79\u3067\u3042\u308b\u8133\u306e\u4e00\u90e8\u304c\u3001\u751f\u307e\u308c\u3064\u304d\u3046\u307e\u304f\u4f5c\u3089\u308c\u306a\u3044\u75be\u60a3\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u539f\u56e0\u306f\u3001\u4f53\u306e\u8a2d\u8a08\u56f3\u306e\u53f8\u4ee4\u5854\u3067\u3042\u308b\u300cSOX2\u907a\u4f1d\u5b50\u300d\u306e\u5909\u5316\u306b\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u75c5\u6c17\u306e\u8d64\u3061\u3083\u3093\u306f\u3001\u751f\u307e\u308c\u305f\u6642\u306b\u76ee\u304c\u958b\u304b\u306a\u304b\u3063\u305f\u308a\u3001\u773c\u7403\u304c\u5c0f\u3055\u304b\u3063\u305f\u308a\u3059\u308b\u3053\u3068\u3067\u6c17\u3065\u304b\u308c\u307e\u3059\u3002\u307e\u305f\u3001\u30df\u30eb\u30af\u3092\u98f2\u3093\u3067\u3082\u5410\u3044\u3066\u3057\u307e\u3046\uff08\u98df\u9053\u9589\u9396\uff09\u3053\u3068\u3084\u3001\u304a\u3061\u3093\u3061\u3093\u304c\u5c0f\u3055\u3044\uff08\u5916\u6027\u5668\u7570\u5e38\uff09\u3053\u3068\u3067\u898b\u3064\u304b\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u300c\u76ee\u304c\u898b\u3048\u306a\u3044\u304b\u3082\u3057\u308c\u306a\u3044\u300d\u300c\u30db\u30eb\u30e2\u30f3\u304c\u51fa\u306a\u3044\u300d\u3068\u805e\u304f\u3068\u3001\u3054\u5bb6\u65cf\u306f\u5c06\u6765\u306b\u5bfe\u3057\u3066\u5927\u304d\u306a\u4e0d\u5b89\u3092\u611f\u3058\u3089\u308c\u308b\u3053\u3068\u3068\u601d\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3057\u304b\u3057\u3001\u533b\u7642\u306e\u9032\u6b69\u306b\u3088\u308a\u3001\u9069\u5207\u306a\u30b5\u30dd\u30fc\u30c8\u3092\u53d7\u3051\u308b\u3053\u3068\u3067\u3001\u5b50\u3069\u3082\u305f\u3061\u306f\u305d\u306e\u5b50\u3089\u3057\u304f\u6210\u9577\u3057\u3066\u3044\u304f\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u773c\u306b\u95a2\u3057\u3066\u306f\u3001\u65e9\u671f\u304b\u3089\u7fa9\u773c\u306a\u3069\u306e\u6cbb\u7642\u3092\u59cb\u3081\u308b\u3053\u3068\u3067\u3001\u304d\u308c\u3044\u306a\u9854\u7acb\u3061\u306b\u6574\u3048\u3066\u3044\u304f\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002\u8996\u899a\u306b\u969c\u5bb3\u304c\u3042\u3063\u3066\u3082\u3001\u8074\u899a\u3084\u89e6\u899a\u3092\u7814\u304e\u6f84\u307e\u305b\u3001\u8c4a\u304b\u306a\u611f\u6027\u3092\u80b2\u3093\u3067\u3044\u308b\u304a\u5b50\u3055\u3093\u304c\u305f\u304f\u3055\u3093\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u30db\u30eb\u30e2\u30f3\u306b\u95a2\u3057\u3066\u306f\u3001\u8db3\u308a\u306a\u3044\u5206\u3092\u304a\u85ac\u3084\u6ce8\u5c04\u3067\u88dc\u3046\u3053\u3068\u3067\u3001\u80cc\u3092\u4f38\u3070\u3057\u3001\u5143\u6c17\u306b\u6d3b\u52d5\u3057\u3001\u5927\u4eba\u3078\u306e\u4f53\u306e\u5909\u5316\u3092\u8fce\u3048\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u98df\u9053\u306e\u554f\u984c\u3082\u3001\u624b\u8853\u3067\u6cbb\u3059\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u77e5\u7684\u306a\u767a\u9054\u306b\u306f\u500b\u4eba\u5dee\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u5927\u5b66\u306b\u9032\u5b66\u3057\u3001\u793e\u4f1a\u3067\u6d3b\u8e8d\u3055\u308c\u3066\u3044\u308b\u60a3\u8005\u3055\u3093\u3082\u3044\u3089\u3063\u3057\u3083\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u773c\u79d1\u533b\u3001\u5185\u5206\u6ccc\u79d1\u533b\u3001\u5c0f\u5150\u5916\u79d1\u533b\u3001\u8996\u899a\u652f\u63f4\u306e\u5c02\u9580\u5bb6\u3001\u305d\u3057\u3066\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30e9\u30fc\u3068\u30c1\u30fc\u30e0\u3092\u7d44\u307f\u3001\u304a\u5b50\u3055\u3093\u306e\u300c\u5fc3\u306e\u76ee\u300d\u3068\u300c\u4f53\u306e\u6210\u9577\u300d\u3092\u3001\u9577\u304f\u3001\u6e29\u304b\u304f\u652f\u3048\u3066\u3044\u304d\u307e\u3057\u3087\u3046\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u53c2\u8003\u6587\u732e<\/strong><\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>Fantes, J., et al.<\/strong> (2003). <em>Mutations in SOX2 cause anophthalmia.<\/em> Nature Genetics.\n<ul class=\"wp-block-list\">\n<li>(\u203bSOX2\u907a\u4f1d\u5b50\u5909\u7570\u304c\u7121\u773c\u7403\u75c7\u306e\u539f\u56e0\u3067\u3042\u308b\u3053\u3068\u3092\u7a81\u304d\u6b62\u3081\u305f\u3001\u6b74\u53f2\u7684\u304b\u3064\u6700\u3082\u91cd\u8981\u306a\u539f\u8457\u8ad6\u6587\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Kelberman, D., et al.<\/strong> (2006). <em>SOX2 plays a critical role in the development of the hypothalamo-pituitary axis.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203bSOX2\u907a\u4f1d\u5b50\u304c\u773c\u3060\u3051\u3067\u306a\u304f\u3001\u8996\u5e8a\u4e0b\u90e8\u30fb\u4e0b\u5782\u4f53\u30fb\u6d77\u99ac\u306a\u3069\u306e\u8133\u69cb\u9020\u306e\u767a\u9054\u306b\u6c7a\u5b9a\u7684\u5f79\u5272\u3092\u679c\u305f\u3057\u3066\u3044\u308b\u3053\u3068\u3092\u660e\u3089\u304b\u306b\u3057\u305f\u7814\u7a76\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Raca, G., et al.<\/strong> (2005). <em>Expansion of the spectrum of clinical phenotypes associated with SOX2 mutations.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203b\u98df\u9053\u9589\u9396\u3084\u6210\u9577\u969c\u5bb3\u306a\u3069\u3001\u773c\u4ee5\u5916\u306e\u5168\u8eab\u75c7\u72b6\uff08\u8868\u73fe\u578b\uff09\u306e\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u3092\u8a73\u7d30\u306b\u5831\u544a\u3057\u305f\u6587\u732e\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Hagstrom, S.A., et al.<\/strong> (2005). <em>SOX2 mutations cause anophthalmia, hearing loss, and brain anomalies.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203bSOX2\u5909\u7570\u306b\u4f34\u3046\u96e3\u8074\u3084\u8133\u5947\u5f62\u306b\u3064\u3044\u3066\u8a00\u53ca\u3057\u3001\u8a3a\u65ad\u306b\u304a\u3051\u308b\u91cd\u8981\u6027\u3092\u793a\u5506\u3057\u305f\u8ad6\u6587\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>GeneReviews\u00ae [Internet]<\/strong>: <em>SOX2-Related Eye Disorders<\/em>. Initial Posting: 2006; Last Update: 2021.\n<ul class=\"wp-block-list\">\n<li>(\u203b\u8a3a\u65ad\u57fa\u6e96\u3001\u6700\u65b0\u306e\u7ba1\u7406\u6307\u91dd\u3001\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u60c5\u5831\u3092\u7db2\u7f85\u3057\u305f\u3001\u81e8\u5e8a\u73fe\u5834\u3067\u6700\u3082\u4fe1\u983c\u3055\u308c\u308b\u30c7\u30fc\u30bf\u30d9\u30fc\u30b9\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Williamson, K.A., et al.<\/strong> (2014). <em>The genetic architecture of microphthalmia, anophthalmia and coloboma.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203bMAC\uff08\u5c0f\u773c\u7403\u30fb\u7121\u773c\u7403\u30fb\u30b3\u30ed\u30dc\u30fc\u30de\uff09\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u5168\u4f53\u306e\u907a\u4f1d\u5b66\u7684\u80cc\u666f\u3092\u30ec\u30d3\u30e5\u30fc\u3057\u3001SOX2\u306e\u4f4d\u7f6e\u3065\u3051\u3092\u89e3\u8aac\u3057\u305f\u6587\u732e\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-17228","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\/17228","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":1,"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/17228\/revisions"}],"predecessor-version":[{"id":17229,"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/17228\/revisions\/17229"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/media?parent=17228"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}