{"id":17348,"date":"2026-01-22T02:49:15","date_gmt":"2026-01-22T02:49:15","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/gene\/?post_type=genetic-screening&#038;p=17348"},"modified":"2026-01-22T02:49:15","modified_gmt":"2026-01-22T02:49:15","slug":"joubert-syndrome-6-jbts6","status":"publish","type":"genetic-screening","link":"https:\/\/www.hiro-clinic.or.jp\/gene\/genetic-screening\/joubert-syndrome-6-jbts6\/","title":{"rendered":"Joubert syndrome 6 (JBTS6)"},"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>JBTS6<\/strong><\/li>\n\n\n\n<li><strong>TMEM67\u95a2\u9023\u30b8\u30e5\u30d9\u30fc\u30eb\u75c7\u5019\u7fa4<\/strong><\/li>\n\n\n\n<li><strong>COACH\u75c7\u5019\u7fa4 (COACH syndrome)<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u203bC\uff1aCerebellar vermis hypoplasia\uff08\u5c0f\u8133\u866b\u90e8\u4f4e\u5f62\u6210\uff09\u3001O\uff1aOligophrenia\uff08\u77e5\u7684\u969c\u5bb3\uff09\u3001A\uff1aAtaxia\uff08\u904b\u52d5\u5931\u8abf\uff09\u3001C\uff1aColoboma\uff08\u773c\u306e\u30b3\u30ed\u30dc\u30fc\u30de\uff09\u3001H\uff1aHepatic fibrosis\uff08\u809d\u7dda\u7dad\u75c7\uff09\u306e\u982d\u6587\u5b57\u3092\u3068\u3063\u305f\u3082\u306e\u3002JBTS6\u306e\u591a\u304f\u304c\u3053\u306e\u81e8\u5e8a\u8a3a\u65ad\u540d\u3092\u51a0\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>MKS3 (Meckel syndrome, type 3)<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u203b\u540c\u3058TMEM67\u907a\u4f1d\u5b50\u306e\u5909\u7570\u3067\u3059\u304c\u3001\u3088\u308a\u91cd\u7be4\u306a\u80ce\u5150\u671f\u306e\u75be\u60a3\uff08\u30e1\u30c3\u30b1\u30eb\u75c7\u5019\u7fa4\uff09\u3092\u6307\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u7e4a\u6bdb\u75c5 (Ciliopathy)<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u203b\u7d30\u80de\u306e\u30a2\u30f3\u30c6\u30ca\u3067\u3042\u308b\u300c\u7e4a\u6bdb\u300d\u306e\u7570\u5e38\u306b\u8d77\u56e0\u3059\u308b\u75be\u60a3\u7fa4\u306e\u7dcf\u79f0\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>8\u756a\u67d3\u8272\u4f53 \u9577\u8155\uff08q\uff0922.1\u9818\u57df<\/strong><\/p>\n\n\n\n<p>JBTS6\u306f\u30018\u756a\u67d3\u8272\u4f53\u4e0a\u306b\u4f4d\u7f6e\u3059\u308b <strong>TMEM67\u907a\u4f1d\u5b50<\/strong> \u306e\u5909\u7570\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>\u3010\u30b2\u30ce\u30e0\u4e0a\u306e\u8a73\u7d30\u3068TMEM67\u907a\u4f1d\u5b50\u306e\u5f79\u5272\u3011<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u8cac\u4efb\u907a\u4f1d\u5b50:<\/strong> <em>TMEM67<\/em> (Transmembrane Protein 67)<\/li>\n\n\n\n<li><strong>\u5f79\u5272:<\/strong> \u3053\u306e\u907a\u4f1d\u5b50\u306f\u300cMeckelin\uff08\u30e1\u30c3\u30b1\u30ea\u30f3\uff09\u300d\u3068\u547c\u3070\u308c\u308b\u30bf\u30f3\u30d1\u30af\u8cea\u3092\u30b3\u30fc\u30c9\u3057\u3066\u3044\u307e\u3059\u3002\u30e1\u30c3\u30b1\u30ea\u30f3\u306f\u3001\u7d30\u80de\u306e\u8868\u9762\u306b\u5b58\u5728\u3059\u308b\u300c\u4e00\u6b21\u7e4a\u6bdb\uff08\u3044\u3061\u3058\u305b\u3093\u3082\u3046\uff09\u300d\u306e\u6839\u5143\uff08\u57fa\u5e95\u5c0f\u4f53\uff09\u306b\u4f4d\u7f6e\u3057\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u75c5\u614b\u30e1\u30ab\u30cb\u30ba\u30e0:<\/strong> \u4e00\u6b21\u7e4a\u6bdb\u306f\u3001\u7d30\u80de\u5916\u304b\u3089\u306e\u5316\u5b66\u7684\u30fb\u7269\u7406\u7684\u30b7\u30b0\u30ca\u30eb\u3092\u53d7\u4fe1\u3057\u3001\u7d30\u80de\u5185\u306b\u4f1d\u3048\u308b\u300c\u30a2\u30f3\u30c6\u30ca\u300d\u306e\u5f79\u5272\u3092\u679c\u305f\u3057\u3066\u3044\u307e\u3059\u3002<em>TMEM67<\/em>\u907a\u4f1d\u5b50\u306b\u5909\u7570\u304c\u751f\u3058\u308b\u3068\u3001\u3053\u306e\u30a2\u30f3\u30c6\u30ca\u306e\u69cb\u9020\u3084\u6a5f\u80fd\u306b\u4e0d\u5177\u5408\u304c\u751f\u3058\u3001\u80ce\u5150\u671f\u306e\u8133\uff08\u5c0f\u8133\u866b\u90e8\uff09\u3001\u809d\u81d3\uff08\u80c6\u7ba1\uff09\u3001\u814e\u81d3\u306a\u3069\u306e\u6b63\u5e38\u306a\u767a\u9054\u306b\u5fc5\u8981\u306a\u30b7\u30b0\u30ca\u30eb\u4f1d\u9054\uff08Wnt\u30b7\u30b0\u30ca\u30eb\u3084Sonic Hedgehog\u30b7\u30b0\u30ca\u30eb\u306a\u3069\uff09\u304c\u963b\u5bb3\u3055\u308c\u307e\u3059\u3002\u305d\u306e\u7d50\u679c\u3001\u5168\u8eab\u306b\u591a\u69d8\u306a\u5947\u5f62\u3084\u6a5f\u80fd\u4e0d\u5168\u304c\u751f\u3058\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u767a\u751f\u983b\u5ea6<\/strong><\/h2>\n\n\n\n<p><strong>\u7d0480,000\u4eba \u301c 100,000\u4eba\u306b1\u4eba\uff08\u30b8\u30e5\u30d9\u30fc\u30eb\u75c7\u5019\u7fa4\u5168\u4f53\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>JBTS6\u306e\u5272\u5408:<\/strong> \u30b8\u30e5\u30d9\u30fc\u30eb\u75c7\u5019\u7fa4\u306b\u306f35\u7a2e\u985e\u4ee5\u4e0a\u306e\u578b\u304c\u77e5\u3089\u308c\u3066\u3044\u307e\u3059\u304c\u3001JBTS6\uff08<em>TMEM67<\/em>\u5909\u7570\uff09\u306f\u3001\u5168\u30b8\u30e5\u30d9\u30fc\u30eb\u75c7\u5019\u7fa4\u306e\u4e2d\u3067 <strong>\u7d047%\u301c10%<\/strong> \u3092\u5360\u3081\u308b\u3068\u5831\u544a\u3055\u308c\u3066\u304a\u308a\u3001\u983b\u5ea6\u306e\u9ad8\u3044\u30b5\u30d6\u30bf\u30a4\u30d7\u306e\u4e00\u3064\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5730\u57df\u5dee:<\/strong> \u907a\u4f1d\u5f62\u5f0f\u304c\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\uff08\u52a3\u6027\uff09\u3067\u3042\u308b\u305f\u3081\u3001\u8fd1\u89aa\u5a5a\u306e\u591a\u3044\u5730\u57df\u3067\u306f\u983b\u5ea6\u304c\u9ad8\u304f\u306a\u308b\u50be\u5411\u304c\u3042\u308a\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>JBTS6\u306f\u3001\u8133\u306e\u69cb\u9020\u7570\u5e38\u306b\u52a0\u3048\u3001\u7279\u306b\u300c\u809d\u81d3\u300d\u3068\u300c\u773c\u300d\u306e\u5408\u4f75\u75c7\u304c\u9ad8\u3044\u983b\u5ea6\u3067\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u5927\u304d\u306a\u7279\u5fb4\u3067\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u8133\u795e\u7d4c\u7cfb\u306e\u7279\u5fb4\uff08\u5171\u901a\u6240\u898b\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u81fc\u6b6f\u5fb4\u5019 (Molar Tooth Sign; MTS):<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8133\u306eMRI\u691c\u67fb\u306b\u304a\u3051\u308b\u7279\u5fb4\u7684\u306a\u6240\u898b\u3067\u3059\u3002\u4e2d\u8133\u306e\u4f4e\u5f62\u6210\u3068\u5c0f\u8133\u4e0a\u811a\u306e\u7570\u5e38\u306a\u4f38\u9577\u30fb\u8d70\u884c\u306b\u3088\u308a\u3001\u8ef8\u4f4d\u65ad\uff08\u6c34\u5e73\u65ad\u9762\uff09\u304c\u300c\u5965\u6b6f\uff08\u81fc\u6b6f\uff09\u300d\u306e\u3088\u3046\u306a\u5f62\u306b\u898b\u3048\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u5c0f\u8133\u866b\u90e8\u4f4e\u5f62\u6210:<\/strong> \u904b\u52d5\u306e\u30d0\u30e9\u30f3\u30b9\u3092\u53f8\u308b\u5c0f\u8133\u306e\u4e2d\u592e\u90e8\u5206\u304c\u672a\u767a\u9054\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u7b4b\u7dca\u5f35\u4f4e\u4e0b (Hypotonia):<\/strong> \u4e73\u5150\u671f\u304b\u3089\u300c\u4f53\u304c\u67d4\u3089\u304b\u3059\u304e\u308b\u300d\u72b6\u614b\u304c\u898b\u3089\u308c\u3001\u904b\u52d5\u767a\u9054\u306e\u9045\u308c\u306b\u7e4b\u304c\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u904b\u52d5\u5931\u8abf (Ataxia):<\/strong> \u6210\u9577\u3068\u3068\u3082\u306b\u3001\u6b69\u884c\u6642\u306e\u3075\u3089\u3064\u304d\u3084\u624b\u306e\u9707\u3048\u3001\u52d5\u4f5c\u306e\u4e0d\u5668\u7528\u3055\u304c\u73fe\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u809d\u81d3\u306e\u5408\u4f75\u75c7\uff08JBTS6\u306b\u975e\u5e38\u306b\u591a\u3044\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5148\u5929\u6027\u809d\u7dda\u7dad\u75c7:<\/strong>\n<ul class=\"wp-block-list\">\n<li><em>TMEM67<\/em>\u5909\u7570\u3092\u6301\u3064\u60a3\u8005\u306e\u591a\u304f\u306b\u898b\u3089\u308c\u307e\u3059\u3002\u809d\u81d3\u5185\u306e\u80c6\u7ba1\u304c\u6b63\u3057\u304f\u5f62\u6210\u3055\u308c\u305a\u3001\u5468\u56f2\u306b\u7dda\u7dad\u5316\uff08\u786c\u304f\u306a\u308b\u3053\u3068\uff09\u304c\u9032\u307f\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u9580\u8108\u5727\u4ea2\u9032\u75c7:<\/strong> \u809d\u81d3\u304c\u786c\u304f\u306a\u308b\u3053\u3068\u3067\u8840\u6d41\u304c\u6ede\u308a\u3001\u813e\u816b\uff08\u3072\u305e\u3046\u304c\u5927\u304d\u304f\u306a\u308b\uff09\u3084\u98df\u9053\u9759\u8108\u7624\u3092\u5f15\u304d\u8d77\u3053\u3059\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u75c7\u72b6:<\/strong> \u521d\u671f\u306f\u7121\u75c7\u72b6\u306e\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u304c\u3001\u8840\u6db2\u691c\u67fb\u3067\u306e\u809d\u9175\u7d20\uff08AST\/ALT\/\u03b3-GTP\uff09\u306e\u4e0a\u6607\u3084\u3001\u8d85\u97f3\u6ce2\u691c\u67fb\u3067\u306e\u7570\u5e38\u3067\u767a\u898b\u3055\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u773c\u306e\u5408\u4f75\u75c7<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u773c\u306e\u30b3\u30ed\u30dc\u30fc\u30de:<\/strong> \u8679\u5f69\u3084\u7db2\u819c\u3001\u8996\u795e\u7d4c\u306e\u4e00\u90e8\u304c\u6b20\u640d\u3059\u308b\u72b6\u614b\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u7db2\u819c\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc:<\/strong> \u7db2\u819c\u306e\u7d30\u80de\u304c\u5f90\u3005\u306b\u5909\u6027\u3057\u3001\u8996\u529b\u4f4e\u4e0b\u3084\u591c\u76f2\u75c7\uff08\u6697\u3044\u3068\u3053\u308d\u3067\u898b\u3048\u306b\u304f\u3044\uff09\u304c\u751f\u3058\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u773c\u7403\u904b\u52d5\u5931\u884c:<\/strong> \u76ee\u3092\u30b9\u30e0\u30fc\u30ba\u306b\u52d5\u304b\u305b\u305a\u3001\u7269\u3092\u898b\u308b\u3068\u304d\u306b\u982d\u3092\u632f\u3063\u3066\u4ee3\u511f\u3059\u308b\u52d5\u304d\u304c\u898b\u3089\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>4. \u814e\u81d3\u306e\u5408\u4f75\u75c7<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u30cd\u30d5\u30ed\u30f3\u767d (Nephronophthisis):<\/strong> \u814e\u81d3\u306e\u4e2d\u306b\u5c0f\u3055\u306a\u56a2\u80de\uff08\u6c34\u306e\u888b\uff09\u304c\u3067\u304d\u3001\u5f90\u3005\u306b\u814e\u6a5f\u80fd\u304c\u4f4e\u4e0b\u3057\u307e\u3059\u3002JBTS6\u306b\u304a\u3051\u308b\u814e\u5408\u4f75\u75c7\u306e\u983b\u5ea6\u306f\u7d0425%\u7a0b\u5ea6\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>5. \u767a\u9054\u3068\u77e5\u80fd<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u767a\u9054\u9045\u6ede:<\/strong> \u904b\u52d5\u9762\uff08\u9996\u3059\u308f\u308a\u3001\u304a\u5ea7\u308a\u3001\u6b69\u884c\uff09\u306f\u8457\u3057\u304f\u9045\u308c\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u77e5\u7684\u969c\u5bb3:<\/strong> \u77e5\u80fd\u6307\u6570\u306f\u500b\u4eba\u5dee\u304c\u5927\u304d\u304f\u3001\u8efd\u5ea6\u304b\u3089\u91cd\u5ea6\u307e\u3067\u69d8\u3005\u3067\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u539f\u56e0<\/strong><\/h2>\n\n\n\n<p><strong>TMEM67\u907a\u4f1d\u5b50\u306e\u5909\u7570\uff08\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d\u5f62\u5f0f\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u907a\u4f1d\u5f62\u5f0f:<\/strong><strong>\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\uff08\u52a3\u6027\uff09\u907a\u4f1d<\/strong>\u3067\u3059\u3002\n<ul class=\"wp-block-list\">\n<li>\u4e21\u89aa\u306f\u5909\u7570\u907a\u4f1d\u5b50\u3092\u4e00\u3064\u305a\u3064\u6301\u3064\u300c\u4fdd\u56e0\u8005\uff08\u30ad\u30e3\u30ea\u30a2\uff09\u300d\u3067\u3042\u308a\u3001\u901a\u5e38\u306f\u7121\u75c7\u72b6\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u5b50\u4f9b\u304c\u4e21\u89aa\u304b\u3089\u5909\u7570\u907a\u4f1d\u5b50\u3092\u4e00\u3064\u305a\u3064\u5f15\u304d\u7d99\u3044\u3060\u5834\u5408\uff0825%\u306e\u78ba\u7387\uff09\u306b\u767a\u75c7\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u907a\u4f1d\u5b50\u578b-\u8868\u73fe\u578b\u76f8\u95a2:<\/strong> <em>TMEM67<\/em>\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306e\u7a2e\u985e\u306b\u3088\u3063\u3066\u306f\u3001\u81f4\u6b7b\u7684\u306a\u30e1\u30c3\u30b1\u30eb\u75c7\u5019\u7fa4\uff08MKS3\uff09\u3068\u306a\u308b\u304b\u3001\u30b8\u30e5\u30d9\u30fc\u30eb\u75c7\u5019\u7fa4\uff08JBTS6\uff09\u3068\u306a\u308b\u304b\u304c\u5206\u304b\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u8a3a\u65ad\u65b9\u6cd5<\/strong><\/h2>\n\n\n\n<p>\u81e8\u5e8a\u75c7\u72b6\u3001MRI\u691c\u67fb\u3001\u304a\u3088\u3073\u907a\u4f1d\u5b50\u691c\u67fb\u3092\u7d44\u307f\u5408\u308f\u305b\u3066\u884c\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u982d\u90e8MRI\u691c\u67fb:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u300c\u81fc\u6b6f\u5fb4\u5019\uff08Molar Tooth Sign\uff09\u300d\u306e\u78ba\u8a8d\u304c\u8a3a\u65ad\u306e\u7b2c\u4e00\u6b69\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u81e8\u5e8a\u8a55\u4fa1:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u7b4b\u7dca\u5f35\u4f4e\u4e0b\u3001\u7570\u5e38\u547c\u5438\u30d1\u30bf\u30fc\u30f3\uff08\u904e\u547c\u5438\u3068\u7121\u547c\u5438\u306e\u4ea4\u4e92\u51fa\u73fe\uff09\u3001\u767a\u9054\u9045\u6ede\u306e\u78ba\u8a8d\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u907a\u4f1d\u5b50\u691c\u67fb:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u6b21\u4e16\u4ee3\u30b7\u30fc\u30b1\u30f3\u30b7\u30f3\u30b0\uff08NGS\uff09\u306b\u3088\u308a\u3001<em>TMEM67<\/em>\u907a\u4f1d\u5b50\u306e\u5909\u7570\u3092\u78ba\u8a8d\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u5168\u8eab\u306e\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\uff08\u5408\u4f75\u75c7\u306e\u691c\u7d22\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>\u8179\u90e8\u8d85\u97f3\u6ce2\u30fbCT:<\/strong> \u809d\u7dda\u7dad\u75c7\u3084\u814e\u56a2\u80de\u306e\u6709\u7121\u3092\u78ba\u8a8d\u3002<\/li>\n\n\n\n<li><strong>\u8840\u6db2\u691c\u67fb:<\/strong> \u809d\u6a5f\u80fd\u3001\u814e\u6a5f\u80fd\u3001\u8840\u5c0f\u677f\u6570\u306e\u30c1\u30a7\u30c3\u30af\uff08\u813e\u816b\u306b\u3088\u308b\u4f4e\u4e0b\u306e\u78ba\u8a8d\uff09\u3002<\/li>\n\n\n\n<li><strong>\u773c\u79d1\u7684\u691c\u67fb:<\/strong> \u773c\u5e95\u691c\u67fb\u3084\u7db2\u819c\u96fb\u56f3\uff08ERG\uff09\u306b\u3088\u308b\u7db2\u819c\u5909\u6027\u306e\u8a55\u4fa1\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>\u73fe\u5728\u306e\u533b\u7642\u306b\u304a\u3044\u3066\u3001\u907a\u4f1d\u5b50\u3084\u8133\u306e\u69cb\u9020\u305d\u306e\u3082\u306e\u3092\u4fee\u6b63\u3059\u308b\u6839\u672c\u7684\u306a\u6cbb\u7642\u6cd5\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u591a\u8077\u7a2e\u9023\u643a\u306b\u3088\u308b**\u300c\u5305\u62ec\u7684\u306a\u5bfe\u75c7\u7642\u6cd5\u300d**\u304c\u4e2d\u5fc3\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3\uff08\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u7406\u5b66\u7642\u6cd5 (PT):<\/strong> \u7b4b\u7dca\u5f35\u4f4e\u4e0b\u3078\u306e\u5bfe\u5fdc\u3001\u4f53\u5e79\u306e\u5b89\u5b9a\u3001\u6b69\u884c\u8a13\u7df4\u3002<\/li>\n\n\n\n<li><strong>\u4f5c\u696d\u7642\u6cd5 (OT):<\/strong> \u65e5\u5e38\u751f\u6d3b\u52d5\u4f5c\u306e\u81ea\u7acb\u652f\u63f4\u3002<\/li>\n\n\n\n<li><strong>\u8a00\u8a9e\u7642\u6cd5 (ST):<\/strong> \u8a00\u8449\u306e\u9045\u308c\u3084\u56a5\u4e0b\u969c\u5bb3\uff08\u98f2\u307f\u8fbc\u307f\uff09\u3078\u306e\u4ecb\u5165\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u809d\u81d3\u30fb\u814e\u81d3\u306e\u7ba1\u7406<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u809d\u6a5f\u80fd\u7ba1\u7406:<\/strong> \u9580\u8108\u5727\u4ea2\u9032\u75c7\u306b\u5bfe\u3059\u308b\u30e2\u30cb\u30bf\u30ea\u30f3\u30b0\u3002\u98df\u9053\u9759\u8108\u7624\u304c\u3042\u308b\u5834\u5408\u306f\u5185\u8996\u93e1\u7684\u6cbb\u7642\u304c\u691c\u8a0e\u3055\u308c\u307e\u3059\u3002\u91cd\u75c7\u306e\u5834\u5408\u306f\u809d\u79fb\u690d\u304c\u5fc5\u8981\u306b\u306a\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u814e\u6a5f\u80fd\u7ba1\u7406:<\/strong> \u6c34\u5206\u6442\u53d6\u306e\u8abf\u6574\u3084\u3001\u8840\u5727\u7ba1\u7406\u3002\u672b\u671f\u814e\u4e0d\u5168\u306b\u81f3\u3063\u305f\u5834\u5408\u306f\u900f\u6790\u3084\u814e\u79fb\u690d\u3092\u691c\u8a0e\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u773c\u79d1\u7684\u30b5\u30dd\u30fc\u30c8<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u8996\u529b\u77ef\u6b63\u3084\u3001\u5f31\u8996\u30fb\u7db2\u819c\u5909\u6027\u306b\u5bfe\u3059\u308b\u4f4e\u8996\u529b\u652f\u63f4\uff08\u30ed\u30fc\u30d3\u30b8\u30e7\u30f3\u30b1\u30a2\uff09\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>4. \u6559\u80b2\u7684\u30fb\u793e\u4f1a\u7684\u652f\u63f4<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u77e5\u7684\u767a\u9054\u306b\u5408\u308f\u305b\u305f\u7279\u5225\u652f\u63f4\u6559\u80b2\u3002<\/li>\n\n\n\n<li>\u5bb6\u65cf\u306b\u5bfe\u3059\u308b\u4f11\u606f\u652f\u63f4\uff08\u30ec\u30b9\u30d1\u30a4\u30c8\u30b1\u30a2\uff09\u3084\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u4e88\u5f8c<\/strong><\/h2>\n\n\n\n<p>\u4e88\u5f8c\u306f\u5408\u4f75\u75c7\u306e\u91cd\u75c7\u5ea6\u3001\u7279\u306b<strong>\u809d\u4e0d\u5168\u304a\u3088\u3073\u814e\u4e0d\u5168\u306e\u9032\u884c\u5ea6<\/strong>\u306b\u5927\u304d\u304f\u5de6\u53f3\u3055\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u8133\u306e\u75c7\u72b6\uff08\u904b\u52d5\u5931\u8abf\uff09\u306f\u9032\u884c\u6027\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u304c\u3001\u809d\u30fb\u814e\u306e\u75c7\u72b6\u306f\u5e74\u9f62\u3068\u3068\u3082\u306b\u9032\u884c\u3059\u308b\u53ef\u80fd\u6027\u304c\u3042\u308b\u305f\u3081\u3001\u751f\u6daf\u306b\u308f\u305f\u308b\u5b9a\u671f\u7684\u306a\u30d5\u30a9\u30ed\u30fc\u30a2\u30c3\u30d7\u304c\u4e0d\u53ef\u6b20\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u91cd\u7be4\u306a\u5408\u4f75\u75c7\u304c\u306a\u3044\u5834\u5408\u3001\u591a\u304f\u306f\u6210\u4eba\u671f\u3092\u8fce\u3048\u308b\u3053\u3068\u304c\u3067\u304d\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>Joubert syndrome 6 (JBTS6) \u306f\u3001\u8133\u306e\u53f8\u4ee4\u5854\u3067\u3042\u308b\u5c0f\u8133\u306e\u4e00\u90e8\u304c\u672a\u767a\u9054\u306a\u72b6\u614b\u3067\u751f\u307e\u308c\u3066\u304f\u308b\u5e0c\u5c11\u306a\u75be\u60a3\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u75c5\u6c17\u306f\u5358\u306a\u308b\u300c\u8133\u306e\u75c5\u6c17\u300d\u3067\u306f\u306a\u304f\u3001\u7d30\u80de\u306e\u30a2\u30f3\u30c6\u30ca\uff08\u7e4a\u6bdb\uff09\u306e\u6545\u969c\u304c\u539f\u56e0\u3067\u3042\u308b\u305f\u3081\u3001\u809d\u81d3\u3084\u814e\u81d3\u3001\u76ee\u3068\u3044\u3063\u305f\u5168\u8eab\u306e\u81d3\u5668\u306b\u3082\u5f71\u97ff\u304c\u53ca\u3076\u3053\u3068\u304c\u7279\u5fb4\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u7279\u306bJBTS6\u3067\u306f\u809d\u6a5f\u80fd\u306e\u30c1\u30a7\u30c3\u30af\u304c\u975e\u5e38\u306b\u91cd\u8981\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u8a3a\u65ad\u3092\u53d7\u3051\u305f\u3054\u5bb6\u65cf\u306f\u3001\u591a\u304f\u306e\u691c\u67fb\u3084\u901a\u9662\u306b\u6238\u60d1\u308f\u308c\u308b\u304b\u3082\u3057\u308c\u307e\u305b\u3093\u3002\u3057\u304b\u3057\u3001\u65e9\u671f\u306b\u5408\u4f75\u75c7\u306e\u30ea\u30b9\u30af\u3092\u77e5\u308a\u3001\u9069\u5207\u306b\u7ba1\u7406\u3057\u3066\u3044\u304f\u3053\u3068\u3067\u3001\u304a\u5b50\u69d8\u306e\u5065\u3084\u304b\u306a\u6210\u9577\u3092\u652f\u3048\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002\u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3\u3092\u901a\u3058\u3066\u4e00\u6b69\u305a\u3064\u767a\u9054\u3092\u4fc3\u3057\u3001\u5c02\u9580\u533b\u30c1\u30fc\u30e0\u3068\u5171\u306b\u3001\u304a\u5b50\u69d8\u306e\u672a\u6765\u3092\u9577\u671f\u7684\u306b\u30b5\u30dd\u30fc\u30c8\u3057\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>Brancati, F., et al.<\/strong> (2009). <em>TMEM67\/MKS3 mutations cause autosomal recessive Leber congenital amaurosis and Joubert syndrome.<\/em>\n<ul class=\"wp-block-list\">\n<li>\uff08JBTS6\u306e\u539f\u56e0\u907a\u4f1d\u5b50\u3068\u3057\u3066\u306eTMEM67\u306e\u5f79\u5272\u3092\u89e3\u660e\u3057\u305f\u91cd\u8981\u8ad6\u6587\u3002\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Doherty, D., et al.<\/strong> (2010). <em>TMEM67 mutations are cause of the junctional forms of Joubert syndrome.<\/em>\n<ul class=\"wp-block-list\">\n<li>\uff08TMEM67\u5909\u7570\u304c\u30b8\u30e5\u30d9\u30fc\u30eb\u75c7\u5019\u7fa4\u306e\u81e8\u5e8a\u50cf\uff08\u7279\u306b\u809d\u5408\u4f75\u75c7\uff09\u306b\u3069\u306e\u3088\u3046\u306b\u5bc4\u4e0e\u3059\u308b\u304b\u3092\u89e3\u6790\u3002\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Valente, E. M., et al.<\/strong> (2013). <em>The Joubert Syndrome\u2013Meckel Syndrome Axial: TMEM67 Mutations.<\/em>\n<ul class=\"wp-block-list\">\n<li>\uff08\u30b8\u30e5\u30d9\u30fc\u30eb\u75c7\u5019\u7fa4\u3068\u30e1\u30c3\u30b1\u30eb\u75c7\u5019\u7fa4\u306e\u907a\u4f1d\u7684\u306a\u9023\u7d9a\u6027\u306b\u3064\u3044\u3066\u306e\u7814\u7a76\u3002\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>GeneReviews\u00ae [Internet]<\/strong>: <em>Joubert Syndrome<\/em>. (NCBI).\n<ul class=\"wp-block-list\">\n<li>\uff08\u6700\u65b0\u306e\u7ba1\u7406\u6307\u91dd\u3001\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u60c5\u5831\u304c\u7db2\u7f85\u3055\u308c\u3066\u3044\u308b\u4e16\u754c\u7684\u30c7\u30fc\u30bf\u30d9\u30fc\u30b9\u3002\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>OMIM (Online Mendelian Inheritance in Man)<\/strong>: <em>#610688 JOUBERT SYNDROME 6; JBTS6<\/em>.\n<ul class=\"wp-block-list\">\n<li>\uff08\u5b66\u8853\u7684\u306a\u907a\u4f1d\u5b50\u30c7\u30fc\u30bf\u3068\u75c7\u4f8b\u5831\u544a\u306e\u96c6\u7d04\u30b5\u30a4\u30c8\u3002\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Unique (The Rare Chromosome Disorder Support Group)<\/strong>: <em>Joubert Syndrome Guide<\/em>.\n<ul class=\"wp-block-list\">\n<li>\uff08\u3054\u5bb6\u65cf\u5411\u3051\u306e\u5e73\u6613\u306a\u89e3\u8aac\u30ac\u30a4\u30c9\u3002\uff09<\/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-17348","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\/17348","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening"}],"about":[{"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/types\/genetic-screening"}],"version-history":[{"count":2,"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/17348\/revisions"}],"predecessor-version":[{"id":17350,"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/17348\/revisions\/17350"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/media?parent=17348"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}