{"id":136711,"date":"2026-09-08T12:23:17","date_gmt":"2026-09-08T03:23:17","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?post_type=genetic-diseases&#038;p=136711"},"modified":"2026-09-08T12:23:17","modified_gmt":"2026-09-08T03:23:17","slug":"joubert-syndrome-18-tctn3","status":"publish","type":"genetic-diseases","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/joubert-syndrome-18-tctn3\/","title":{"rendered":"\u30b8\u30e5\u30d9\u30fc\u30eb\u75c7\u5019\u7fa418\u578b"},"content":{"rendered":"\n<h2 class=\"wp-block-heading\">\u6982\u8981<\/h2>\n\n\n\n<p>\u30b8\u30e5\u30d9\u30fc\u30eb\u75c7\u5019\u7fa418\u578b\u306f\u3001\u8133\u306e\u4e00\u90e8\u3067\u3042\u308b\u5c0f\u8133\u3068\u8133\u5e79\u306e\u5f62\u304c\u751f\u307e\u308c\u3064\u304d\u7570\u306a\u308b\u305f\u3081\u306b\u3001\u4f53\u306e\u30d0\u30e9\u30f3\u30b9\u3084\u547c\u5438\u3001\u773c\u306e\u52d5\u304d\u306b\u5f71\u97ff\u304c\u51fa\u308b\u75c5\u6c17\u3067\u3059\u3002\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\uff08\u52a3\u6027\uff09\u907a\u4f1d\u306e\u5f62\u5f0f\u3092\u3068\u308a\u3001<strong>TCTN3<\/strong> \u907a\u4f1d\u5b50\u306e\u5909\u5316\u304c\u539f\u56e0\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u982d\u306eMRI\u3067\u898b\u3089\u308c\u308b\u7279\u5fb4\u7684\u306a\u5f62\u306f<strong>\u300c\u81fc\u6b6f\u5fb4\u5019\uff08molar tooth sign\uff09\u300d<\/strong>\u3068\u547c\u3070\u308c\u3001\u3053\u306e\u75c5\u6c17\u306b\u5171\u901a\u3059\u308b\u8a3a\u65ad\u306e\u6c7a\u3081\u624b\u306b\u306a\u308a\u307e\u3059\u3002\u30b8\u30e5\u30d9\u30fc\u30eb\u75c7\u5019\u7fa4\u306b\u306f40\u4ee5\u4e0a\u306e\u539f\u56e0\u907a\u4f1d\u5b50\u304c\u77e5\u3089\u308c\u3066\u304a\u308a\u3001\u539f\u56e0\u3068\u306a\u308b\u907a\u4f1d\u5b50\u306b\u3088\u3063\u3066\u3001\u76ee\u30fb\u814e\u81d3\u30fb\u809d\u81d3\u306a\u3069\u306e\u5408\u4f75\u75c7\u306e\u51fa\u3084\u3059\u3055\u304c\u7570\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u539f\u56e0<\/h2>\n\n\n\n<p><strong>TCTN3<\/strong> \u907a\u4f1d\u5b50\u306f\u3001\u7d30\u80de\u306e\u8868\u9762\u306b\u3042\u308b<strong>\u300c\u4e00\u6b21\u7e4a\u6bdb\u300d<\/strong>\u3068\u3044\u3046\u5c0f\u3055\u306a\u30a2\u30f3\u30c6\u30ca\u306e\u306f\u305f\u3089\u304d\u306b\u95a2\u308f\u308b\u305f\u3093\u3071\u304f\u8cea\u306e\u8a2d\u8a08\u56f3\u3067\u3059\u3002\u4e00\u6b21\u7e4a\u6bdb\u306f\u3001\u7d30\u80de\u304c\u5468\u56f2\u304b\u3089\u306e\u4fe1\u53f7\u3092\u53d7\u3051\u53d6\u308b\u305f\u3081\u306b\u4f7f\u308f\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u907a\u4f1d\u5b50\u306b\u5909\u5316\u304c\u3042\u308b\u3068\u7e4a\u6bdb\u306e\u306f\u305f\u3089\u304d\u304c\u640d\u306a\u308f\u308c\u3001\u8133\u30fb\u76ee\u30fb\u814e\u81d3\u30fb\u809d\u81d3\u306a\u3069\u306e\u767a\u751f\u306b\u5f71\u97ff\u304c\u51fa\u307e\u3059\u3002\u3053\u3046\u3057\u305f\u75c5\u6c17\u306e\u30b0\u30eb\u30fc\u30d7\u3092<strong>\u300c\u7e4a\u6bdb\u75c5\uff08\u30b7\u30ea\u30aa\u30d1\u30c1\u30fc\uff09\u300d<\/strong>\u3068\u547c\u3073\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>TCTN3<\/strong> \u306f\u3001\u7e4a\u6bdb\u306e\u4ed8\u3051\u6839\u306e\u300c\u9077\u79fb\u5e2f\u300d\u3067\u9580\u756a\u306e\u5f79\u76ee\u3092\u3059\u308b\u30c6\u30af\u30c8\u30cb\u30c3\u30af\u8907\u5408\u4f53\u306e\u4e00\u90e8\u3067\u3059\u3002\u3053\u306e\u578b\u3067\u306f\u3001<strong>\u591a\u6307\u75c7\u3084\u9aa8\u683c\u306e\u7570\u5e38\u3092\u4f34\u3046\u91cd\u3044\u578b\uff08\u53e3\u9854\u6307\u75c7\u5019\u7fa4IV\u578b\uff09<\/strong>\u306b\u306a\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u75c7\u72b6<\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u8d64\u3061\u3083\u3093\u306e\u3053\u308d\u306e\u7b4b\u7dca\u5f35\u306e\u4f4e\u4e0b\uff08\u4f53\u304c\u3084\u308f\u3089\u304b\u3044\uff09<\/li>\n\n\n\n<li>\u767a\u9054\u306e\u9045\u308c\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\uff08\u7a0b\u5ea6\u306b\u306f\u5e45\u304c\u3042\u308a\u307e\u3059\uff09<\/li>\n\n\n\n<li>\u6b69\u304f\u3068\u304d\u306e\u3075\u3089\u3064\u304d\uff08\u5931\u8abf\uff09<\/li>\n\n\n\n<li>\u65b0\u751f\u5150\u671f\u306e\u547c\u5438\u306e\u4e71\u308c\uff08\u901f\u3044\u547c\u5438\u3068\u7121\u547c\u5438\u3092\u304f\u308a\u8fd4\u3059\uff09<\/li>\n\n\n\n<li>\u773c\u7403\u306e\u52d5\u304d\u306e\u7570\u5e38\uff08\u773c\u7403\u904b\u52d5\u5931\u884c\uff09<\/li>\n\n\n\n<li>\u7db2\u819c\u306e\u5909\u6027\uff08\u8996\u529b\u306e\u4f4e\u4e0b\u306b\u3064\u306a\u304c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\uff09<\/li>\n\n\n\n<li>\u814e\u81d3\u306e\u75c5\u6c17\uff08\u814e\u7646\u3001\u814e\u56a2\u80de\uff09\u3092\u4f34\u3046\u3053\u3068\u304c\u3042\u308b<\/li>\n\n\n\n<li>\u809d\u81d3\u306e\u7dda\u7dad\u5316\u3092\u4f34\u3046\u3053\u3068\u304c\u3042\u308b<\/li>\n\n\n\n<li>\u591a\u6307\u75c7\uff08\u6307\u304c\u591a\u3044\uff09\u3092\u4f34\u3046\u3053\u3068\u304c\u3042\u308b<\/li>\n\n\n\n<li>\u982d\u90e8MRI\u3067\u306e<strong>\u81fc\u6b6f\u5fb4\u5019<\/strong><\/li>\n\n\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\">\u691c\u67fb\u30fb\u8a3a\u65ad<\/h2>\n\n\n\n<p>\u982d\u90e8MRI\u3067\u81fc\u6b6f\u5fb4\u5019\u3092\u78ba\u8a8d\u3059\u308b\u3053\u3068\u304c\u8a3a\u65ad\u306e\u4e2d\u5fc3\u3067\u3059\u3002\u30b8\u30e5\u30d9\u30fc\u30eb\u75c7\u5019\u7fa4\u306b\u306f40\u4ee5\u4e0a\u306e\u539f\u56e0\u907a\u4f1d\u5b50\u304c\u77e5\u3089\u308c\u3066\u3044\u308b\u305f\u3081\u3001<strong>\u3069\u306e\u578b\u304b\u3092\u77e5\u308b\u306b\u306f\u907a\u4f1d\u5b66\u7684\u691c\u67fb\u304c\u5fc5\u8981<\/strong>\u3067\u3059\u3002<strong>TCTN3<\/strong> \u907a\u4f1d\u5b50\u306e\u89e3\u6790\u306b\u3088\u3063\u3066\u30b8\u30e5\u30d9\u30fc\u30eb\u75c7\u5019\u7fa418\u578b\u3068\u78ba\u5b9a\u3057\u307e\u3059\u3002\u539f\u56e0\u907a\u4f1d\u5b50\u304c\u5206\u304b\u308b\u3068\u3001\u5408\u4f75\u75c7\u306e\u30b5\u30fc\u30d9\u30a4\u30e9\u30f3\u30b9\u8a08\u753b\u3092\u7acb\u3066\u3084\u3059\u304f\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u6cbb\u7642<\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u6839\u672c\u7684\u306b\u6cbb\u3059\u65b9\u6cd5\u306f\u78ba\u7acb\u3057\u3066\u3044\u307e\u305b\u3093<\/strong><\/li>\n\n\n\n<li>\u7406\u5b66\u7642\u6cd5\u30fb\u4f5c\u696d\u7642\u6cd5\u30fb\u8a00\u8a9e\u7642\u6cd5\u306b\u3088\u308b\u767a\u9054\u306e\u652f\u63f4<\/li>\n\n\n\n<li>\u65b0\u751f\u5150\u671f\u306e\u547c\u5438\u306e\u4e71\u308c\u306b\u5bfe\u3059\u308b\u898b\u5b88\u308a\u3068\u3001\u5fc5\u8981\u306b\u5fdc\u3058\u305f\u547c\u5438\u306e\u7ba1\u7406<\/li>\n\n\n\n<li><strong>\u773c\u79d1\u3067\u306e\u5b9a\u671f\u7684\u306a\u8a3a\u5bdf<\/strong>\uff08\u7db2\u819c\u306e\u5909\u6027\u3092\u65e9\u304f\u898b\u3064\u3051\u308b\u305f\u3081\uff09<\/li>\n\n\n\n<li><strong>\u814e\u81d3\u306e\u306f\u305f\u3089\u304d\u3068\u809d\u81d3\u306e\u72b6\u614b\u3092\u5b9a\u671f\u7684\u306b\u78ba\u8a8d\u3059\u308b<\/strong><\/li>\n\n\n\n<li>\u3066\u3093\u304b\u3093\u304c\u3042\u308b\u5834\u5408\u306f\u6297\u3066\u3093\u304b\u3093\u85ac<\/li>\n\n\n\n<li>\u591a\u6307\u75c7\u306a\u3069\u306b\u5bfe\u3059\u308b\u6574\u5f62\u5916\u79d1\u7684\u306a\u6cbb\u7642<\/li>\n\n\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\">\u3053\u306e\u75be\u60a3\u306f\u691c\u67fb\u3067\u308f\u304b\u308a\u307e\u3059<\/h2>\n\n\n\n<p>\u3053\u306e\u75be\u60a3\u306f\u3001\u539f\u56e0\u3068\u306a\u308b <strong>TCTN3<\/strong> \u907a\u4f1d\u5b50\u3092\u8abf\u3079\u308b\u3053\u3068\u3067\u3001\u767a\u75c7\u524d\u3084\u51fa\u751f\u524d\u306b\u898b\u3064\u3051\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30afNIPT\u3067\u306f\u6b21\u306e2\u3064\u306e\u691c\u67fb\u3092\u3054\u7528\u610f\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">\u30a8\u30af\u30bd\u30fc\u30e0\u89e3\u6790\u3092\u7528\u3044\u305f\u691c\u67fb\uff081,200\u7a2e\u985e\u4ee5\u4e0a\uff09<\/h3>\n\n\n\n<p>\u30a8\u30af\u30bd\u30fc\u30e0\u89e3\u6790\u306f\u3001\u907a\u4f1d\u5b50\u306e\u3046\u3061\u305f\u3093\u3071\u304f\u8cea\u306e\u8a2d\u8a08\u56f3\u306b\u3042\u305f\u308b\u90e8\u5206\uff08\u30a8\u30af\u30bd\u30f3\uff09\u3092\u307e\u3068\u3081\u3066\u8aad\u307f\u53d6\u308b\u691c\u67fb\u3067\u3059\u3002\u3053\u306e\u89e3\u6790\u3092\u884c\u3063\u305f\u3046\u3048\u3067\u3001<strong>TCTN3<\/strong> \u907a\u4f1d\u5b50\u3092\u542b\u3080<strong>1,200\u7a2e\u985e\u4ee5\u4e0a<\/strong>\u306e\u907a\u4f1d\u5b50\u3092\u5bfe\u8c61\u306b\u8abf\u3079\u3001<strong>\u3053\u306e\u75be\u60a3\u306e\u539f\u56e0\u3068\u306a\u308b\u5909\u5316\u3092\u691c\u51fa\u3059\u308b\u3053\u3068\u304c\u53ef\u80fd\u3067\u3059<\/strong>\u3002\u56fd\u5185\u306e\u691c\u67fb\u6240\u3067\u884c\u3044\u3001\u7d50\u679c\u307e\u3067\u306e\u671f\u9593\u306f5\u9031\u9593\u301c7\u9031\u9593\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">\u30ad\u30e3\u30ea\u30a2\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u30c6\u30b9\u30c8\uff08228\u7a2e\u985e\uff09<\/h3>\n\n\n\n<p>\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\uff08\u52a3\u6027\uff09\u907a\u4f1d\u306e\u75be\u60a3\u306f\u3001\u3054\u4e21\u89aa\u304c\u3069\u3061\u3089\u3082\u75c7\u72b6\u306e\u306a\u3044\u300c\u30ad\u30e3\u30ea\u30a2\uff08\u4fdd\u56e0\u8005\uff09\u300d\u3067\u3042\u308b\u3068\u304d\u306b\u3001<strong>4\u5206\u306e1\u306e\u78ba\u7387<\/strong>\u3067\u304a\u5b50\u3055\u307e\u304c\u767a\u75c7\u3057\u307e\u3059\u3002\u30ad\u30e3\u30ea\u30a2\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u30c6\u30b9\u30c8\u3067\u306f\u3001\u3054\u592b\u5a66\u304c\u3053\u306e\u75be\u60a3\u306e\u30ad\u30e3\u30ea\u30a2\u304b\u3069\u3046\u304b\u3092\u982c\u306e\u5185\u5074\u306e\u7c98\u819c\u304b\u3089\u8abf\u3079\u3001<strong>\u304a\u5b50\u3055\u307e\u306b\u53d7\u3051\u7d99\u304c\u308c\u308b\u53ef\u80fd\u6027\u3092\u3001\u598a\u5a20\u524d\u3084\u51fa\u751f\u524d\u306b\u4e88\u6e2c\u3059\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059<\/strong>\u3002<\/p>\n\n\n\n<p>\u691c\u67fb\u306e\u5185\u5bb9\u30fb\u8cbb\u7528\u30fb\u7d50\u679c\u307e\u3067\u306e\u671f\u9593\u306f <a href=\"\/nipt\/nipt\/autosomal-recessive-inheritance\/\">\u30ad\u30e3\u30ea\u30a2\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u30c6\u30b9\u30c8228<\/a> \u306e\u30da\u30fc\u30b8\u3092\u3054\u89a7\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u5c02\u9580\u7684\u306a\u89e3\u8aac<\/h2>\n\n\n\n<p>\u30b8\u30e5\u30d9\u30fc\u30eb\u75c7\u5019\u7fa418\u578b\u306f <strong>TCTN3<\/strong> \u306e\u4e21\u30a2\u30ec\u30eb\u5909\u7570\u306b\u3088\u308a\u751f\u3058\u308b\u3002\u30b8\u30e5\u30d9\u30fc\u30eb\u75c7\u5019\u7fa4\u306f\u73fe\u572840\u4ee5\u4e0a\u306e\u8cac\u4efb\u907a\u4f1d\u5b50\u304c\u540c\u5b9a\u3055\u308c\u3066\u3044\u308b\u907a\u4f1d\u7684\u7570\u8cea\u6027\u306e\u9ad8\u3044\u75be\u60a3\u7fa4\u3067\u3001\u5171\u901a\u6240\u898b\u306f\u982d\u90e8MRI\u306b\u304a\u3051\u308b <strong>molar tooth sign<\/strong>\uff08\u4e0a\u5c0f\u8133\u811a\u306e\u80a5\u539a\u30fb\u5ef6\u9577\u3001\u6df1\u3044\u811a\u9593\u7aa9\u3001\u5c0f\u8133\u866b\u90e8\u4f4e\u5f62\u6210\uff09\u3067\u3042\u308b\u3002<\/p>\n\n\n\n<p>\u8cac\u4efb\u907a\u4f1d\u5b50\u7523\u7269\u306e\u591a\u304f\u306f\u3001\u4e00\u6b21\u7e4a\u6bdb\u306e\u57fa\u5e95\u5c0f\u4f53\u30fb\u9077\u79fb\u5e2f\uff08transition zone\uff09\u30fb\u7e4a\u6bdb\u5185\u8f38\u9001\uff08IFT\uff09\u306b\u95a2\u308f\u308b\u3002\u9077\u79fb\u5e2f\u306f\u7e4a\u6bdb\u5185\u5916\u306e\u86cb\u767d\u8cea\u306e\u51fa\u5165\u308a\u3092\u5236\u5fa1\u3059\u308b\u300c\u9580\u300d\u3067\u3042\u308a\u3001\u305d\u306e\u7834\u7dbb\u304cSHH\u30b7\u30b0\u30ca\u30eb\u306a\u3069\u306e\u7570\u5e38\u3092\u4ecb\u3057\u3066\u5c0f\u8133\u866b\u90e8\u306e\u5f62\u6210\u4e0d\u5168\u3092\u3082\u305f\u3089\u3059\u3002<\/p>\n\n\n\n<p><strong>TCTN3<\/strong>\uff0810q24.1\uff09\u306f\u30c6\u30af\u30c8\u30cb\u30c3\u30af\u8907\u5408\u4f53\uff08TCTN1\/2\/3\u3001MKS1\u3001TMEM67 \u7b49\uff09\u3092\u69cb\u6210\u3057\u3001\u9077\u79fb\u5e2f\u306b\u304a\u3051\u308b\u86cb\u767d\u8cea\u306e\u9078\u629e\u7684\u901a\u904e\u3092\u5236\u5fa1\u3059\u308b\u3002<strong>\u91cd\u75c7\u5909\u7570\u306fMohr-Majewski\u75c7\u5019\u7fa4\uff08\u53e3\u9854\u6307\u75c7\u5019\u7fa4IV\u578b\uff1a\u591a\u6307\u75c7\u3001\u811b\u9aa8\u4f4e\u5f62\u6210\u3001\u81f4\u6b7b\u7684\uff09<\/strong>\u3092\u3001\u8efd\u75c7\u5909\u7570\u306f\u30b8\u30e5\u30d9\u30fc\u30eb\u75c7\u5019\u7fa418\u578b\u3092\u751f\u3058\u308b\u3002<\/p>\n\n\n\n<p>\u7e4a\u6bdb\u75c5\u3068\u3057\u3066\u306e\u4f4d\u7f6e\u3065\u3051\u304b\u3089\u3001Meckel\u75c7\u5019\u7fa4\u3001Bardet-Biedl\u75c7\u5019\u7fa4\u3001\u814e\u7646\u30fbSenior-L\u00f8ken\u75c7\u5019\u7fa4\u3001\u53e3\u9854\u6307\u75c7\u5019\u7fa4\u306a\u3069\u3068\u8868\u73fe\u578b\u304c\u9023\u7d9a\u3059\u308b\u3002<strong>\u540c\u4e00\u907a\u4f1d\u5b50\u304c\u3001\u5909\u7570\u306e\u91cd\u75c7\u5ea6\u306b\u5fdc\u3058\u3066\u30b8\u30e5\u30d9\u30fc\u30eb\u75c7\u5019\u7fa4\u304b\u3089Meckel\u75c7\u5019\u7fa4\uff08\u81f4\u6b7b\u7684\uff09\u307e\u3067\u3092\u751f\u3058\u308b<\/strong>\u3053\u3068\u304c\u77e5\u3089\u308c\u3066\u304a\u308a\u3001\u539f\u56e0\u907a\u4f1d\u5b50\u306e\u540c\u5b9a\u306f\u5408\u4f75\u75c7\u306e\u30b5\u30fc\u30d9\u30a4\u30e9\u30f3\u30b9\u3068\u4e88\u5f8c\u306e\u898b\u901a\u3057\u306b\u76f4\u7d50\u3059\u308b\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u3088\u304f\u3042\u308b\u8cea\u554f<\/h2>\n\n\n\n<h3 class=\"wp-block-heading\">Q. MRI\u306e\u300c\u81fc\u6b6f\u5fb4\u5019\u300d\u3068\u306f\u4f55\u3067\u3059\u304b\uff1f<\/h3>\n\n\n\n<p>A. \u8133\u5e79\u3068\u5c0f\u8133\u306e\u5f62\u304c\u3001\u4e0a\u304b\u3089\u898b\u308b\u3068\u5965\u6b6f\uff08\u81fc\u6b6f\uff09\u306e\u3088\u3046\u306b\u898b\u3048\u308b\u6240\u898b\u3067\u3059\u3002\u30b8\u30e5\u30d9\u30fc\u30eb\u75c7\u5019\u7fa4\u306b\u7279\u5fb4\u7684\u3067\u3001\u8a3a\u65ad\u306e\u6c7a\u3081\u624b\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">Q. \u76ee\u3084\u814e\u81d3\u306e\u691c\u67fb\u306f\u5fc5\u8981\u3067\u3059\u304b\uff1f<\/h3>\n\n\n\n<p>A. \u539f\u56e0\u3068\u306a\u308b\u907a\u4f1d\u5b50\u306b\u3088\u3063\u3066\u3001\u7db2\u819c\u306e\u5909\u6027\u3084\u814e\u81d3\u306e\u75c5\u6c17\u3092\u4f34\u3044\u3084\u3059\u3055\u304c\u7570\u306a\u308a\u307e\u3059\u3002\u5b9a\u671f\u7684\u306a\u773c\u79d1\u30fb\u814e\u81d3\u306e\u691c\u67fb\u3092\u304a\u3059\u3059\u3081\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">Q. \u767a\u9054\u306f\u3069\u306e\u304f\u3089\u3044\u9032\u307f\u307e\u3059\u304b\uff1f<\/h3>\n\n\n\n<p>A. \u304a\u5b50\u3055\u307e\u306b\u3088\u3063\u3066\u5e45\u304c\u3042\u308a\u307e\u3059\u3002\u7406\u5b66\u7642\u6cd5\u3084\u4f5c\u696d\u7642\u6cd5\u306a\u3069\u306e\u652f\u63f4\u3092\u65e9\u304f\u304b\u3089\u7d9a\u3051\u308b\u3053\u3068\u3067\u3001\u3067\u304d\u308b\u3053\u3068\u3092\u5897\u3084\u3057\u3066\u3044\u3051\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">Q. \u306a\u305c\u907a\u4f1d\u5b50\u3092\u8abf\u3079\u308b\u306e\u3067\u3059\u304b\uff1f<\/h3>\n\n\n\n<p>A. 40\u4ee5\u4e0a\u306e\u539f\u56e0\u907a\u4f1d\u5b50\u304c\u3042\u308a\u3001\u3069\u306e\u907a\u4f1d\u5b50\u304c\u539f\u56e0\u304b\u306b\u3088\u3063\u3066\u5408\u4f75\u75c7\u306e\u51fa\u65b9\u304c\u5909\u308f\u308b\u305f\u3081\u3067\u3059\u3002\u691c\u67fb\u306b\u3088\u3063\u3066\u3001\u5fc5\u8981\u306a\u5b9a\u671f\u691c\u67fb\u306e\u8a08\u753b\u3092\u7acb\u3066\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">Q. \u9aa8\u3084\u6307\u306e\u7570\u5e38\u3092\u4f34\u3046\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u304b\uff1f<\/h3>\n\n\n\n<p>A. \u3053\u306e\u578b\u3067\u306f\u3001\u591a\u6307\u75c7\u3084\u9aa8\u683c\u306e\u7570\u5e38\u3092\u4f34\u3046\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u6574\u5f62\u5916\u79d1\u3068\u9023\u643a\u3057\u3066\u8a55\u4fa1\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u53c2\u8003\u6587\u732e<\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Thomas S, Legendre M, Saunier S, et al. TCTN3 mutations cause Mohr-Majewski syndrome. <em>Am J Hum Genet<\/em>. 2012;91(2):372-378.<\/li>\n\n\n\n<li>Parisi MA, Glass I. Joubert Syndrome. In: <em>GeneReviews\u00ae<\/em>. University of Washington, Seattle.<\/li>\n\n\n\n<li>Bachmann-Gagescu R, Dempsey JC, Phelps IG, et al. Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. <em>J Med Genet<\/em>. 2015;52(8):514-522.<\/li>\n\n\n\n<li>Romani M, Micalizzi A, Valente EM. Joubert syndrome: congenital cerebellar ataxia with the molar tooth. <em>Lancet Neurol<\/em>. 2013;12(9):894-905.<\/li>\n\n\n<\/ul>\n","protected":false},"featured_media":0,"menu_order":0,"template":"page_gd.php","class_list":["post-136711","genetic-diseases","type-genetic-diseases","status-publish","hentry"],"acf":[],"_links":{"self":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/136711","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases"}],"about":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/types\/genetic-diseases"}],"version-history":[{"count":1,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/136711\/revisions"}],"predecessor-version":[{"id":137081,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/136711\/revisions\/137081"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=136711"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}