{"id":17345,"date":"2026-01-22T02:45:45","date_gmt":"2026-01-22T02:45:45","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/gene\/?post_type=genetic-screening&#038;p=17345"},"modified":"2026-01-22T02:46:39","modified_gmt":"2026-01-22T02:46:39","slug":"joubert-syndrome-21-jbts21","status":"publish","type":"genetic-screening","link":"https:\/\/www.hiro-clinic.or.jp\/gene\/genetic-screening\/joubert-syndrome-21-jbts21\/","title":{"rendered":"Joubert syndrome 21 (JBTS21)"},"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>JBTS21<\/strong><\/li>\n\n\n\n<li><strong>CSPP1\u95a2\u9023\u30b8\u30e5\u30d9\u30fc\u30eb\u75c7\u5019\u7fa4<\/strong><\/li>\n\n\n\n<li><strong>\u7e4a\u6bdb\u75c5\uff08Ciliopathy\uff09<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u203b\u30b8\u30e5\u30d9\u30fc\u30eb\u75c7\u5019\u7fa4\u306f\u3001\u7d30\u80de\u306e\u300c\u7e4a\u6bdb\uff08\u305b\u3093\u3082\u3046\uff09\u300d\u3068\u3044\u3046\u69cb\u9020\u306e\u7570\u5e38\u306b\u3088\u3063\u3066\u8d77\u3053\u308b\u75be\u60a3\u7fa4\u306e\u4e00\u7a2e\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u95a2\u9023\uff1aCOACH\u75c7\u5019\u7fa4<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u203b\u30b8\u30e5\u30d9\u30fc\u30eb\u75c7\u5019\u7fa4\u306e\u7279\u5fb4\u306b\u809d\u7dda\u7dad\u75c7\u3092\u4f34\u3046\u75c5\u578b\u3067\u3059\u304c\u300121\u578b\u3067\u3082\u809d\u5408\u4f75\u75c7\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u95a2\u9023\uff1aDekaban-Arima\u75c7\u5019\u7fa4\uff08\u6709\u99ac\u75c7\u5019\u7fa4\uff09<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u203b\u65e5\u672c\u3067\u767a\u898b\u3055\u308c\u305f\u3001\u30b8\u30e5\u30d9\u30fc\u30eb\u75c7\u5019\u7fa4\u306b\u91cd\u7be4\u306a\u773c\u30fb\u814e\u5408\u4f75\u75c7\u3092\u4f34\u3046\u95a2\u9023\u75be\u60a3\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\uff0913.1 &#8211; q13.2\u9818\u57df<\/strong><\/p>\n\n\n\n<p>\u30b8\u30e5\u30d9\u30fc\u30eb\u75c7\u5019\u7fa421\u578b\u306f\u30018\u756a\u67d3\u8272\u4f53\u4e0a\u306e\u7279\u5b9a\u306e\u9818\u57df\u306b\u4f4d\u7f6e\u3059\u308b <strong>CSPP1\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\u3068\u8cac\u4efb\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>CSPP1<\/em> (Centrosome and Spindle Pole Associated Protein 1)<\/li>\n\n\n\n<li><strong>\u5f79\u5272:<\/strong> \u3053\u306e\u907a\u4f1d\u5b50\u304b\u3089\u4f5c\u3089\u308c\u308b\u30bf\u30f3\u30d1\u30af\u8cea\u306f\u3001\u7d30\u80de\u5206\u88c2\u306e\u969b\u306b\u91cd\u8981\u306a\u5f79\u5272\u3092\u679c\u305f\u3059\u300c\u4e2d\u5fc3\u4f53\u300d\u3084\u3001\u7d30\u80de\u306e\u30a2\u30f3\u30c6\u30ca\u5f79\u3067\u3042\u308b\u300c\u4e00\u6b21\u7e4a\u6bdb\u300d\u306e\u6839\u5143\u306b\u4f4d\u7f6e\u3057\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u75c5\u614b\u30e1\u30ab\u30cb\u30ba\u30e0:<\/strong> <em>CSPP1<\/em>\u907a\u4f1d\u5b50\u306b\u5909\u7570\u304c\u751f\u3058\u308b\u3068\u3001\u4e00\u6b21\u7e4a\u6bdb\u306e\u5f62\u6210\u3084\u7dad\u6301\u304c\u6b63\u5e38\u306b\u884c\u3048\u306a\u304f\u306a\u308a\u307e\u3059\u3002\u4e00\u6b21\u7e4a\u6bdb\u306f\u7d30\u80de\u5916\u304b\u3089\u306e\u30b7\u30b0\u30ca\u30eb\uff08\u30bd\u30cb\u30c3\u30af\u30fb\u30d8\u30c3\u30b8\u30db\u30c3\u30b0\u4fe1\u53f7\u306a\u3069\uff09\u3092\u30ad\u30e3\u30c3\u30c1\u3057\u3066\u7d30\u80de\u5185\u306b\u4f1d\u3048\u308b\u91cd\u8981\u306a\u5f79\u5272\u3092\u62c5\u3063\u3066\u304a\u308a\u3001\u7279\u306b\u80ce\u5150\u671f\u306e\u8133\uff08\u5c0f\u8133\u3084\u8133\u5e79\uff09\u306e\u6b63\u3057\u3044\u5f62\u6210\u306b\u4e0d\u53ef\u6b20\u3067\u3059\u3002\u3053\u306e\u30b7\u30b0\u30ca\u30eb\u4f1d\u9054\u306e\u4e0d\u5168\u304c\u3001\u30b8\u30e5\u30d9\u30fc\u30eb\u75c7\u5019\u7fa4\u7279\u6709\u306e\u8133\u69cb\u9020\u7570\u5e38\u3092\u5f15\u304d\u8d77\u3053\u3057\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>21\u578b\u306e\u5272\u5408:<\/strong> \u30b8\u30e5\u30d9\u30fc\u30eb\u75c7\u5019\u7fa4\u306b\u306f\u73fe\u572830\u7a2e\u985e\u4ee5\u4e0a\u306e\u578b\uff08JBTS1\u301c38\u306a\u3069\uff09\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u300221\u578b\uff08<em>CSPP1<\/em>\u5909\u7570\uff09\u306f\u3001\u5168\u30b8\u30e5\u30d9\u30fc\u30eb\u75c7\u5019\u7fa4\u306e\u4e2d\u3067\u306f\u6bd4\u8f03\u7684\u983b\u5ea6\u304c\u9ad8\u3044\u30b5\u30d6\u30bf\u30a4\u30d7\u306e\u4e00\u3064\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5730\u57df\u5dee:<\/strong> \u7279\u5b9a\u306e\u5730\u57df\u3067\u306e\u96c6\u7a4d\u5831\u544a\u3082\u3042\u308a\u307e\u3059\u304c\u3001\u4e16\u754c\u4e2d\u3067\u6563\u767a\u7684\u306b\u78ba\u8a8d\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6027\u5dee:<\/strong> \u5e38\u67d3\u8272\u4f53\u6f5c\u6027\uff08\u52a3\u6027\uff09\u907a\u4f1d\u5f62\u5f0f\u3092\u3068\u308b\u305f\u3081\u3001\u7537\u5973\u306e\u767a\u751f\u6bd4\u7387\u306b\u6709\u610f\u306a\u5dee\u306f\u3042\u308a\u307e\u305b\u3093\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>JBTS21\u306e\u75c7\u72b6\u306f\u3001\u4e2d\u67a2\u795e\u7d4c\u7cfb\u306e\u7570\u5e38\u3092\u6838\u3068\u3057\u3001\u5168\u8eab\u306e\u81d3\u5668\uff08\u773c\u3001\u814e\u3001\u809d\u3001\u591a\u6307\u306a\u3069\uff09\u306b\u591a\u69d8\u306a\u5408\u4f75\u75c7\u3092\u4f34\u3046\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u4e2d\u67a2\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\uff08Molar Tooth Sign; MTS\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8133\u306eMRI\u691c\u67fb\u306b\u304a\u3044\u3066\u3001\u4e2d\u8133\u3068\u5c0f\u8133\u4e0a\u811a\u306e\u7570\u5e38\u306b\u3088\u308a\u3001\u65ad\u9762\u56f3\u304c\u300c\u5965\u6b6f\uff08\u81fc\u6b6f\uff09\u300d\u306e\u3088\u3046\u306a\u5f62\u306b\u898b\u3048\u307e\u3059\u3002\u3053\u308c\u306f\u30b8\u30e5\u30d9\u30fc\u30eb\u75c7\u5019\u7fa4\u5168\u822c\u306b\u5171\u901a\u3059\u308b\u8a3a\u65ad\u306e\u6c7a\u3081\u624b\uff08\u753b\u50cf\u5b66\u7684\u6307\u6a19\uff09\u3067\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\uff08\u866b\u90e8\uff09\u304c\u6b20\u640d\u307e\u305f\u306f\u672a\u767a\u9054\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u7b4b\u7dca\u5f35\u4f4e\u4e0b\uff08Hypotonia\uff09:<\/strong> \u4e73\u5150\u671f\u304b\u3089\u4f53\u304c\u975e\u5e38\u306b\u67d4\u3089\u304b\u304f\u3001\u904b\u52d5\u767a\u9054\u306e\u9045\u308c\u306e\u539f\u56e0\u3068\u306a\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u904b\u52d5\u5931\u8abf\uff08Ataxia\uff09:<\/strong> \u6210\u9577\u3068\u3068\u3082\u306b\u3001\u3075\u3089\u3064\u304d\u3084\u52d5\u4f5c\u306e\u4e0d\u5668\u7528\u3055\u304c\u76ee\u7acb\u3064\u3088\u3046\u306b\u306a\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u547c\u5438\u304a\u3088\u3073\u773c\u7403\u904b\u52d5\u306e\u7570\u5e38<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u65b0\u751f\u5150\u671f\u306e\u547c\u5438\u7570\u5e38:<\/strong> \u7570\u5e38\u306b\u65e9\u3044\u547c\u5438\uff08\u904e\u547c\u5438\uff09\u3068\u547c\u5438\u4f11\u6b62\u3092\u4ea4\u4e92\u306b\u7e70\u308a\u8fd4\u3059\u72ec\u7279\u306a\u547c\u5438\u30d1\u30bf\u30fc\u30f3\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u773c\u7403\u904b\u52d5\u5931\u884c:<\/strong> \u76ee\u3092\u7279\u5b9a\u306e\u65b9\u5411\u306b\u30b9\u30e0\u30fc\u30ba\u306b\u52d5\u304b\u3059\u3053\u3068\u304c\u96e3\u3057\u304f\u3001\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>3. \u767a\u9054\u30fb\u77e5\u80fd<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u767a\u9054\u9045\u6ede:<\/strong> \u904b\u52d5\u767a\u9054\uff08\u9996\u5ea7\u308a\u3001\u304a\u5ea7\u308a\u3001\u6b69\u884c\uff09\u306f\u8457\u3057\u304f\u9045\u308c\u308b\u50be\u5411\u306b\u3042\u308a\u307e\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\u4e00\u90e8\u306b\u306f\u6b63\u5e38\u306b\u8fd1\u3044\u8a8d\u77e5\u6a5f\u80fd\u3092\u4fdd\u6301\u3059\u308b\u4f8b\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>4. JBTS21\uff08CSPP1\u5909\u7570\uff09\u306b\u7279\u6709\u3001\u307e\u305f\u306f\u983b\u5ea6\u306e\u9ad8\u3044\u5408\u4f75\u75c7<\/strong><\/p>\n\n\n\n<p><em>CSPP1<\/em>\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u308b21\u578b\u3067\u306f\u3001\u4ee5\u4e0b\u306e\u75c7\u72b6\u304c\u6bd4\u8f03\u7684\u591a\u304f\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u591a\u6307\uff08\u8dbe\uff09\u75c7:<\/strong> \u624b\u3084\u8db3\u306e\u6307\u304c6\u672c\u4ee5\u4e0a\u3042\u308b\u3002<\/li>\n\n\n\n<li><strong>\u7db2\u819c\u5909\u6027\uff08\u7db2\u819c\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\uff09:<\/strong> \u8996\u529b\u306e\u4f4e\u4e0b\u3084\u591c\u76f2\u75c7\u3092\u5f15\u304d\u8d77\u3053\u3057\u3001\u5c06\u6765\u7684\u306b\u5931\u660e\u306e\u30ea\u30b9\u30af\u3092\u4f34\u3046\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u814e\u75be\u60a3\uff08\u30cd\u30d5\u30ed\u30f3\u767d\uff09:<\/strong> \u814e\u81d3\u306b\u5c0f\u3055\u306a\u56a2\u80de\u304c\u3067\u304d\u3001\u9032\u884c\u3059\u308b\u3068\u814e\u4e0d\u5168\u306b\u81f3\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u809d\u7dda\u7dad\u75c7:<\/strong> \u809d\u81d3\u304c\u786c\u304f\u306a\u308a\u3001\u9580\u8108\u5727\u4ea2\u9032\u75c7\u306a\u3069\u3092\u5f15\u304d\u8d77\u3053\u3059\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5f8c\u982d\u90e8\u8133\u7624:<\/strong> \u982d\u84cb\u9aa8\u306e\u5f8c\u308d\u5074\u306b\u8133\u306e\u4e00\u90e8\u304c\u98db\u3073\u51fa\u3057\u3066\u3044\u308b\u72b6\u614b\u3067\u751f\u307e\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\uff08\u4ed6\u306e\u578b\u306b\u6bd4\u307921\u578b\u3067\u6bd4\u8f03\u7684\u5831\u544a\u304c\u591a\u3044\u7279\u5fb4\u3067\u3059\uff09\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u539f\u56e0<\/strong><\/h2>\n\n\n\n<p><strong>CSPP1\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\u901a\u5e38\u3001\u5909\u7570\u3057\u305f\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\u81ea\u8eab\u306b\u306f\u75c7\u72b6\u306f\u3042\u308a\u307e\u305b\u3093\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>\u5909\u7570\u306e\u7a2e\u985e:<\/strong> <em>CSPP1<\/em>\u907a\u4f1d\u5b50\u306e\u6a5f\u80fd\u3092\u5b8c\u5168\u306b\u5931\u308f\u305b\u308b\u3088\u3046\u306a\u5909\u7570\uff08\u5207\u65ad\u578b\u5909\u7570\uff09\u304c\u591a\u304f\u898b\u3089\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\u3001\u753b\u50cf\u8a3a\u65ad\u3001\u304a\u3088\u3073\u907a\u4f1d\u5b50\u691c\u67fb\u306e\u4e09\u67f1\u306b\u3088\u3063\u3066\u884c\u308f\u308c\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>\u6700\u3082\u91cd\u8981\u3067\u3059\u3002\u300c\u81fc\u6b6f\u5fb4\u5019\uff08Molar Tooth Sign\uff09\u300d\u306e\u6709\u7121\u3092\u78ba\u8a8d\u3057\u307e\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\u547c\u5438\u7570\u5e38\u3001\u767a\u9054\u9045\u6ede\u3001\u773c\u7403\u904b\u52d5\u306e\u89b3\u5bdf\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u907a\u4f1d\u5b50\u691c\u67fb\uff08\u78ba\u5b9a\u8a3a\u65ad\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u6b21\u4e16\u4ee3\u30b7\u30fc\u30b1\u30f3\u30b7\u30f3\u30b0\uff08NGS\uff09\u3092\u7528\u3044\u305f\u30b8\u30e5\u30d9\u30fc\u30eb\u75c7\u5019\u7fa4\u30d1\u30cd\u30eb\u691c\u67fb\u3001\u3042\u308b\u3044\u306f\u5168\u30a8\u30af\u30bd\u30fc\u30e0\u89e3\u6790\u306b\u3088\u3063\u3066\u3001<em>CSPP1<\/em>\u907a\u4f1d\u5b50\u306e\u5909\u7570\u3092\u7279\u5b9a\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:<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>\u773c\u79d1\u691c\u67fb:<\/strong> \u7db2\u819c\u306e\u7570\u5e38\u3092\u78ba\u8a8d\uff08ERG\uff1a\u7db2\u819c\u96fb\u56f3\u306a\u3069\uff09\u3002<\/li>\n\n\n\n<li><strong>\u8179\u90e8\u8d85\u97f3\u6ce2\u691c\u67fb:<\/strong> \u814e\u81d3\u3084\u809d\u81d3\u306e\u56a2\u80de\u30fb\u7dda\u7dad\u5316\u3092\u78ba\u8a8d\u3002<\/li>\n\n\n\n<li><strong>\u8840\u6db2\u691c\u67fb:<\/strong> \u814e\u6a5f\u80fd\uff08\u30af\u30ec\u30a2\u30c1\u30cb\u30f3\uff09\u3084\u809d\u6a5f\u80fd\u3092\u5b9a\u671f\u7684\u306b\u8a55\u4fa1\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u6cbb\u7642\u65b9\u6cd5\u30fb\u7ba1\u7406<\/strong><\/h2>\n\n\n\n<p>\u73fe\u5728\u306e\u533b\u5b66\u306b\u304a\u3044\u3066\u3001\u6b20\u640d\u3057\u3066\u3044\u308b\u907a\u4f1d\u5b50\u3084\u8133\u306e\u69cb\u9020\u305d\u306e\u3082\u306e\u3092\u6cbb\u7642\u3059\u308b\u65b9\u6cd5\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u500b\u3005\u306e\u75c7\u72b6\u306b\u5408\u308f\u305b\u305f**\u300c\u5305\u62ec\u7684\u5bfe\u75c7\u7642\u6cd5\u300d**\u304c\u4e2d\u5fc3\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u547c\u5438\u7ba1\u7406<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u65b0\u751f\u5150\u671f\u306e\u7121\u547c\u5438\u3084\u904e\u547c\u5438\u306b\u5bfe\u3057\u3066\u3001\u5fc5\u8981\u306b\u5fdc\u3058\u305f\u30e2\u30cb\u30bf\u30ea\u30f3\u30b0\u3084\u9178\u7d20\u6295\u4e0e\u3001\u91cd\u75c7\u306e\u5834\u5408\u306f\u4eba\u5de5\u547c\u5438\u5668\u306b\u3088\u308b\u30b5\u30dd\u30fc\u30c8\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \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\uff08PT\uff09:<\/strong> \u7b4b\u7dca\u5f35\u4f4e\u4e0b\u306b\u5bfe\u3059\u308b\u904b\u52d5\u767a\u9054\u306e\u4fc3\u9032\u3002<\/li>\n\n\n\n<li><strong>\u4f5c\u696d\u7642\u6cd5\uff08OT\uff09:<\/strong> \u624b\u5148\u306e\u6a5f\u80fd\u3084ADL\uff08\u65e5\u5e38\u751f\u6d3b\u52d5\u4f5c\uff09\u306e\u6539\u5584\u3002<\/li>\n\n\n\n<li><strong>\u8a00\u8a9e\u7642\u6cd5\uff08ST\uff09:<\/strong> \u8a00\u8449\u306e\u9045\u308c\u3084\u56a5\u4e0b\uff08\u98f2\u307f\u8fbc\u307f\uff09\u306e\u30b5\u30dd\u30fc\u30c8\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u5404\u81d3\u5668\u306e\u5408\u4f75\u75c7\u6cbb\u7642<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u773c\u79d1:<\/strong> \u8996\u529b\u88dc\u52a9\u5177\u306e\u4f7f\u7528\u3001\u906e\u5149\u773c\u93e1\u306e\u691c\u8a0e\u3002<\/li>\n\n\n\n<li><strong>\u814e\u79d1\u30fb\u5185\u79d1:<\/strong> \u814e\u4e0d\u5168\u304c\u9032\u884c\u3057\u305f\u5834\u5408\u306f\u3001\u98df\u4e8b\u7642\u6cd5\u3084\u900f\u6790\u3001\u814e\u79fb\u690d\u304c\u691c\u8a0e\u3055\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5916\u79d1:<\/strong> \u591a\u6307\u75c7\u306b\u5bfe\u3059\u308b\u5207\u9664\u624b\u8853\u3001\u8133\u7624\u306b\u5bfe\u3059\u308b\u4fee\u5fa9\u8853\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>4. \u6559\u80b2\u7684\u30fb\u5fc3\u7406\u7684\u652f\u63f4<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u500b\u3005\u306e\u77e5\u7684\u30fb\u904b\u52d5\u30ec\u30d9\u30eb\u306b\u5408\u308f\u305b\u305f\u7279\u5225\u652f\u63f4\u6559\u80b2\u3002<\/li>\n\n\n\n<li>\u3054\u5bb6\u65cf\u306b\u5bfe\u3059\u308b\u5fc3\u7406\u7684\u30b1\u30a2\u3068\u3001\u5c06\u6765\u306e\u598a\u5a20\u306b\u5411\u3051\u305f\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<ul class=\"wp-block-list\">\n<li><strong>\u751f\u547d\u4e88\u5f8c:<\/strong> \u547c\u5438\u5668\u5408\u4f75\u75c7\u3084\u91cd\u7be4\u306a\u814e\u30fb\u809d\u4e0d\u5168\u304c\u306a\u3044\u9650\u308a\u3001\u591a\u304f\u306f\u6210\u4eba\u671f\u3092\u8fce\u3048\u307e\u3059\u3002\u305f\u3060\u3057\u3001\u5408\u4f75\u75c7\u306e\u91cd\u75c7\u5ea6\u306b\u3088\u3063\u3066\u5927\u304d\u304f\u5de6\u53f3\u3055\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u751f\u6d3b\u306e\u8cea:<\/strong> \u65e9\u671f\u304b\u3089\u306e\u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3\u3068\u9069\u5207\u306a\u6559\u80b2\u652f\u63f4\u306b\u3088\u308a\u3001\u81ea\u7acb\u3057\u305f\u751f\u6d3b\u3092\u76ee\u6307\u3059\u3053\u3068\u304c\u53ef\u80fd\u3067\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u307e\u3068\u3081<\/strong><\/h2>\n\n\n\n<p>Joubert syndrome 21 (JBTS21) \u306f\u3001\u8133\u306e\u5f62\u6210\u7570\u5e38\u3092\u7279\u5fb4\u3068\u3059\u308b\u5e0c\u5c11\u306a\u907a\u4f1d\u6027\u75be\u60a3\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u300c\u7e4a\u6bdb\u75c5\u300d\u3068\u3044\u3046\u540d\u524d\u306e\u901a\u308a\u3001\u7d30\u80de\u306e\u5fae\u5c0f\u306a\u30a2\u30f3\u30c6\u30ca\u306e\u6545\u969c\u304c\u539f\u56e0\u3067\u3001\u304a\u8179\u306e\u4e2d\u3067\u8133\u304c\u4f5c\u3089\u308c\u308b\u30d7\u30ed\u30bb\u30b9\u306b\u5f71\u97ff\u304c\u51fa\u307e\u3059\u3002<\/p>\n\n\n\n<p>MRI\u3067\u898b\u3089\u308c\u308b\u300c\u5965\u6b6f\u306e\u5f62\uff08MTS\uff09\u300d\u306f\u3001\u3053\u306e\u75c5\u6c17\u306e\u8a3a\u65ad\u306b\u304a\u3044\u3066\u975e\u5e38\u306b\u91cd\u8981\u306a\u30b5\u30a4\u30f3\u3067\u3059\u300221\u578b\u3067\u306f\u3001\u624b\u8db3\u306e\u6307\u306e\u591a\u3055\u3084\u3001\u76ee\u3001\u814e\u81d3\u306e\u5408\u4f75\u75c7\u306b\u7279\u306b\u6ce8\u610f\u3092\u6255\u3046\u5fc5\u8981\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u8a3a\u65ad\u3092\u53d7\u3051\u305f\u3054\u5bb6\u65cf\u306b\u3068\u3063\u3066\u3001\u5c06\u6765\u3078\u306e\u4e0d\u5b89\u306f\u5927\u304d\u3044\u3082\u306e\u3067\u3059\u304c\u3001\u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3\u3084\u533b\u7642\u306e\u9032\u6b69\u306b\u3088\u308a\u3001\u304a\u5b50\u69d8\u304c\u6301\u3063\u3066\u3044\u308b\u53ef\u80fd\u6027\u3092\u6700\u5927\u9650\u306b\u5f15\u304d\u51fa\u3059\u3053\u3068\u304c\u3067\u304d\u308b\u3088\u3046\u306b\u306a\u3063\u3066\u3044\u307e\u3059\u3002\u5b9a\u671f\u7684\u306a\u691c\u67fb\u3067\u5408\u4f75\u75c7\u3092\u65e9\u671f\u306b\u767a\u898b\u3057\u3001\u5c02\u9580\u5bb6\u30c1\u30fc\u30e0\uff08\u5c0f\u5150\u79d1\u3001\u795e\u7d4c\u79d1\u3001\u773c\u79d1\u3001\u814e\u81d3\u79d1\u3001\u30ea\u30cf\u30d3\u30ea\u79d1\uff09\u3068\u4e8c\u4eba\u4e09\u811a\u3067\u6b69\u3093\u3067\u3044\u304f\u3053\u3068\u304c\u5927\u5207\u3067\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u53c2\u8003\u6587\u732e\u5143<\/strong><\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>Joubert, M., et al.<\/strong> (1969). <em>Familial agenesis of the cerebellar vermis. A syndrome of episodic hyperpnea, abnormal eye movements, ataxia, and retardation.<\/em> Neurology.\n<ul class=\"wp-block-list\">\n<li>\uff08\u30b8\u30e5\u30d9\u30fc\u30eb\u535a\u58eb\u306b\u3088\u308b\u6700\u521d\u306e\u5831\u544a\u8ad6\u6587\u3002\u672c\u75c7\u5019\u7fa4\u306e\u6b74\u53f2\u7684\u57fa\u790e\u3067\u3059\u3002\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Akizu, N., et al.<\/strong> (2014). <em>Mutations in CSPP1 cause Joubert syndrome with a high prevalence of vasopressin-resistant polyuria.<\/em> American Journal of Human Genetics.\n<ul class=\"wp-block-list\">\n<li>\uff08JBTS21\u3068CSPP1\u907a\u4f1d\u5b50\u306e\u95a2\u9023\u3092\u8a73\u7d30\u306b\u5831\u544a\u3057\u305f\u91cd\u8981\u8ad6\u6587\u3002\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Shaheen, R., et al.<\/strong> (2014). <em>CSPP1 mutations cause Usher-like phenotype associated with Joubert syndrome.<\/em>\n<ul class=\"wp-block-list\">\n<li>\uff08JBTS21\u306e\u81e8\u5e8a\u7684\u306a\u591a\u69d8\u6027\u3068\u3001\u907a\u4f1d\u5b66\u7684\u80cc\u666f\u3092\u89e3\u660e\u3057\u305f\u7814\u7a76\u3002\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Tuz, K., et al.<\/strong> (2014). <em>Mutations in CSPP1 cause a range of ciliopathy phenotypes from Joubert syndrome to Meckel syndrome.<\/em>\n<ul class=\"wp-block-list\">\n<li>\uff08CSPP1\u5909\u7570\u304c\u8efd\u75c7\u304b\u3089\u91cd\u75c7\u307e\u3067\u5e45\u5e83\u3044\u75c7\u72b6\u3092\u5f15\u304d\u8d77\u3053\u3059\u3053\u3068\u3092\u793a\u3057\u305f\u8ad6\u6587\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\u30b8\u30e5\u30d9\u30fc\u30eb\u75c7\u5019\u7fa4\u5168\u4f53\u304a\u3088\u3073\u5404\u75c5\u578b\u306e\u8a3a\u65ad\u30fb\u7ba1\u7406\u306b\u95a2\u3059\u308b\u6a19\u6e96\u7684\u30ea\u30d5\u30a1\u30ec\u30f3\u30b9\u3002\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>OMIM (Online Mendelian Inheritance in Man)<\/strong>: <em>#615634 JOUBERT SYNDROME 21; JBTS21<\/em>.\n<ul class=\"wp-block-list\">\n<li>\uff08\u6700\u65b0\u306e\u5b66\u8853\u7684\u30c7\u30fc\u30bf\u304c\u96c6\u7d04\u3055\u308c\u3066\u3044\u308b\u907a\u4f1d\u5b50\u75be\u60a3\u30c7\u30fc\u30bf\u30d9\u30fc\u30b9\u3002\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Unique (The Rare Chromosome Disorder Support Group)<\/strong>: <em>Joubert Syndrome: A Guide for Families<\/em>.\n<ul class=\"wp-block-list\">\n<li>\uff08\u5e0c\u5c11\u75be\u60a3\u652f\u63f4\u56e3\u4f53\u306b\u3088\u308b\u3001\u3054\u5bb6\u65cf\u5411\u3051\u306e\u308f\u304b\u308a\u3084\u3059\u3044\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-17345","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\/17345","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\/17345\/revisions"}],"predecessor-version":[{"id":17347,"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/17345\/revisions\/17347"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/media?parent=17345"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}