{"id":136702,"date":"2026-09-08T12:23:14","date_gmt":"2026-09-08T03:23:14","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?post_type=genetic-diseases&#038;p=136702"},"modified":"2026-09-08T12:23:14","modified_gmt":"2026-09-08T03:23:14","slug":"autosomal-recessive-deafness-7-tmc1","status":"publish","type":"genetic-diseases","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/autosomal-recessive-deafness-7-tmc1\/","title":{"rendered":"\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u96e3\u80747\u578b"},"content":{"rendered":"\n<h2 class=\"wp-block-heading\">\u6982\u8981<\/h2>\n\n\n\n<p>\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u96e3\u80747\u578b\uff08DFNB7\/11\uff09\u306f\u3001\u751f\u307e\u308c\u3064\u304d\u3001\u3042\u308b\u3044\u306f\u5e7c\u3044\u3046\u3061\u304b\u3089\u91cd\u3044\u96e3\u8074\u304c\u73fe\u308c\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>TMC1<\/strong> \u907a\u4f1d\u5b50\u306e\u5909\u5316\u304c\u539f\u56e0\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u8033\u4ee5\u5916\u306b\u75c7\u72b6\u3092\u4f34\u308f\u306a\u3044<strong>\u300c\u975e\u75c7\u5019\u6027\u96e3\u8074\u300d<\/strong>\u3067\u3001<strong>\u4eba\u5de5\u5185\u8033\u306b\u3088\u308b\u8074\u899a\u306e\u7372\u5f97\u304c\u671f\u5f85\u3067\u304d\u307e\u3059<\/strong>\u3002\u65e9\u304f\u8a3a\u65ad\u3057\u3066\u3001\u65e9\u304f\u4ecb\u5165\u3059\u308b\u3053\u3068\u304c\u3053\u3068\u3070\u306e\u767a\u9054\u3092\u5927\u304d\u304f\u5de6\u53f3\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u539f\u56e0<\/h2>\n\n\n\n<p><strong>TMC1<\/strong> \u907a\u4f1d\u5b50\u306f\u3001\u5185\u8033\u306e\u6709\u6bdb\u7d30\u80de\u306b\u3042\u308b\u300c\u97f3\u3092\u611f\u3058\u53d6\u308b\u5165\u308a\u53e3\u300d\uff08\u6a5f\u68b0\u53d7\u5bb9\u30c1\u30e3\u30cd\u30eb\uff09\u3092\u4f5c\u308b\u305f\u3093\u3071\u304f\u8cea\u306e\u8a2d\u8a08\u56f3\u3067\u3059\u3002\u97f3\u306e\u632f\u52d5\u3092\u96fb\u6c17\u4fe1\u53f7\u306b\u5909\u3048\u308b\u3001\u8074\u3053\u3048\u306e\u3044\u3061\u3070\u3093\u6700\u521d\u306e\u6bb5\u968e\u3092\u62c5\u3063\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u907a\u4f1d\u5b50\u306b\u5909\u5316\u304c\u3042\u308b\u3068\u97f3\u306e\u4fe1\u53f7\u304c\u4f5c\u3089\u308c\u305a\u3001\u91cd\u3044\u96e3\u8074\u306b\u306a\u308a\u307e\u3059\u3002<strong>\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u306e\u5909\u5316\u3067\u306f\u5148\u5929\u6027\u306e\u91cd\u5ea6\u96e3\u8074\uff08DFNB7\/11\uff09<\/strong>\u3001\u9855\u6027\u306e\u5909\u5316\u3067\u306f\u6210\u4eba\u767a\u75c7\u306e\u9032\u884c\u6027\u96e3\u8074\uff08DFNA36\uff09\u3068\u306a\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><strong>\u751f\u307e\u308c\u3064\u304d\u3001\u3042\u308b\u3044\u306f\u4e73\u5e7c\u5150\u671f\u304b\u3089\u306e\u91cd\u5ea6\u301c\u6700\u91cd\u5ea6\u306e\u96e3\u8074<\/strong>\uff08\u4e21\u8033\uff09<\/li>\n\n\n\n<li>\u3053\u3068\u3070\u306e\u767a\u9054\u306e\u9045\u308c\uff08\u6cbb\u7642\u3092\u3057\u306a\u3044\u5834\u5408\uff09<\/li>\n\n\n\n<li><strong>\u96e3\u8074\u4ee5\u5916\u306e\u75c7\u72b6\u306f\u3042\u308a\u307e\u305b\u3093<\/strong>\uff08\u3081\u307e\u3044\u30fb\u8996\u529b\u969c\u5bb3\u30fb\u814e\u969c\u5bb3\u306a\u3069\u3092\u4f34\u3044\u307e\u305b\u3093\uff09<\/li>\n\n\n\n<li>\u65b0\u751f\u5150\u8074\u899a\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u3067\u300c\u8981\u7cbe\u67fb\u300d\u3068\u306a\u308b\u3053\u3068\u304c\u591a\u3044<\/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>\u65b0\u751f\u5150\u8074\u899a\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u3068\u3001\u305d\u306e\u5f8c\u306e\u8074\u529b\u691c\u67fb\uff08ABR\u3001ASSR\uff09\u3067\u96e3\u8074\u3092\u78ba\u8a8d\u3057\u307e\u3059\u3002\u539f\u56e0\u3092\u8abf\u3079\u308b\u305f\u3081<strong>\u96e3\u8074\u306e\u907a\u4f1d\u5b66\u7684\u691c\u67fb<\/strong>\u3092\u884c\u3044\u3001<strong>TMC1<\/strong> \u907a\u4f1d\u5b50\u306e\u5909\u5316\u3092\u78ba\u8a8d\u3057\u307e\u3059\u3002<strong>\u65e5\u672c\u3067\u306f\u96e3\u8074\u306e\u907a\u4f1d\u5b66\u7684\u691c\u67fb\u304c\u4fdd\u967a\u9069\u7528<\/strong>\u3067\u3001\u539f\u56e0\u907a\u4f1d\u5b50\u306b\u3088\u3063\u3066\u4eba\u5de5\u5185\u8033\u306e\u52b9\u679c\u306e\u898b\u901a\u3057\u304c\u7acb\u3066\u3089\u308c\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>\u88dc\u8074\u5668<\/strong>\uff1a\u307e\u305a\u88c5\u7528\u3057\u3001\u52b9\u679c\u3092\u78ba\u8a8d\u3057\u307e\u3059<\/li>\n\n\n\n<li><strong>\u4eba\u5de5\u5185\u8033<\/strong>\uff1a\u3053\u306e\u907a\u4f1d\u5b50\u304c\u539f\u56e0\u306e\u96e3\u8074\u3067\u306f\u3001<strong>\u826f\u597d\u306a\u52b9\u679c\u304c\u671f\u5f85\u3067\u304d\u307e\u3059<\/strong><\/li>\n\n\n\n<li>\u3053\u3068\u3070\u306e\u767a\u9054\u3092\u652f\u3048\u308b\u7642\u80b2\uff08\u8a00\u8a9e\u8074\u899a\u7642\u6cd5\uff09<\/li>\n\n\n\n<li>\u5bb6\u65cf\u3078\u306e\u652f\u63f4\u3001\u6559\u80b2\u9762\u3067\u306e\u914d\u616e<\/li>\n\n\n\n<li>\u5b9a\u671f\u7684\u306a\u8074\u529b\u306e\u8a55\u4fa1<\/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>TMC1<\/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>TMC1<\/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>\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u96e3\u80747\u578b\uff08DFNB7\/11\uff09\u306f <strong>TMC1<\/strong>\uff089q21.13\uff09\u306e\u4e21\u30a2\u30ec\u30eb\u5909\u7570\u306b\u3088\u308b\u975e\u75c7\u5019\u6027\u611f\u97f3\u96e3\u8074\u3067\u3042\u308b\u3002TMC1\u306f\u5185\u8033\u6709\u6bdb\u7d30\u80de\u306e\u4e0d\u52d5\u6bdb\u5148\u7aef\u306b\u5c40\u5728\u3057\u3001<strong>\u6a5f\u68b0\u96fb\u6c17\u5909\u63db\uff08MET\uff09\u30c1\u30e3\u30cd\u30eb\u306e\u69cb\u6210\u5206\u5b50<\/strong>\u3067\u3042\u308b\u3002<\/p>\n\n\n\n<p>\u540c\u4e00\u907a\u4f1d\u5b50\u306e\u9855\u6027\u5909\u7570\u306f DFNA36\uff08\u6210\u4eba\u767a\u75c7\u306e\u9032\u884c\u6027\u96e3\u8074\uff09\u3092\u751f\u3058\u3001\u6f5c\u6027\u5909\u7570\u306f\u5148\u5929\u6027\u91cd\u5ea6\u96e3\u8074\u3092\u751f\u3058\u308b\u3002\u6f5c\u6027\u578b\u306f\u5148\u5929\u6027\u30fb\u975e\u9032\u884c\u6027\u30fb\u91cd\u5ea6\u301c\u6700\u91cd\u5ea6\u3067\u3001\u4e21\u5074\u5bfe\u79f0\u6027\u3067\u3042\u308b\u3002<\/p>\n\n\n\n<p>\u96e3\u8074\u306e\u907a\u4f1d\u5b66\u7684\u691c\u67fb\u306b\u3088\u308a\u539f\u56e0\u907a\u4f1d\u5b50\u3092\u540c\u5b9a\u3059\u308b\u81e8\u5e8a\u7684\u610f\u7fa9\u306f\u5927\u304d\u3044\u3002<strong>TMC1\u3092\u306f\u3058\u3081\u3068\u3059\u308b\u5185\u8033\u6709\u6bdb\u7d30\u80de\u306e\u907a\u4f1d\u5b50\uff08GJB2\u3001SLC26A4\u3001TMC1\u3001CDH23 \u306a\u3069\uff09\u304c\u539f\u56e0\u306e\u5834\u5408\u3001\u8778\u725b\u795e\u7d4c\u304c\u4fdd\u305f\u308c\u3066\u3044\u308b\u305f\u3081\u4eba\u5de5\u5185\u8033\u306e\u52b9\u679c\u304c\u826f\u597d<\/strong>\u3067\u3042\u308b\u3002\u4e00\u65b9\u3001OTOF\uff08DFNB9\uff09\u306fauditory neuropathy\u3092\u5448\u3059\u308b\u304c\u4eba\u5de5\u5185\u8033\u304c\u6709\u52b9\u3001\u8778\u725b\u795e\u7d4c\u4f4e\u5f62\u6210\u3067\u306f\u52b9\u679c\u304c\u9650\u5b9a\u7684\u3068\u306a\u308b\u3002<\/p>\n\n\n\n<p>\u672c\u90a6\u306e\u96e3\u8074\u907a\u4f1d\u5b66\u7684\u691c\u67fb\uff08\u4fdd\u967a\u53ce\u8f09\uff09\u3067\u306f\u3001TMC1\u3092\u542b\u3080\u591a\u6570\u306e\u907a\u4f1d\u5b50\u304c\u540c\u6642\u306b\u89e3\u6790\u3055\u308c\u308b\u3002\u4eba\u5de5\u5185\u8033\u306e\u9069\u5fdc\u5224\u65ad\u3068\u4e88\u5f8c\u4e88\u6e2c\u306b\u76f4\u7d50\u3059\u308b\u305f\u3081\u3001\u65e9\u671f\u306e\u5b9f\u65bd\u304c\u63a8\u5968\u3055\u308c\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. \u4eba\u5de5\u5185\u8033\u306f\u52b9\u679c\u304c\u3042\u308a\u307e\u3059\u304b\uff1f<\/h3>\n\n\n\n<p>A. \u3053\u306e\u907a\u4f1d\u5b50\u304c\u539f\u56e0\u306e\u96e3\u8074\u3067\u306f\u3001\u826f\u597d\u306a\u52b9\u679c\u304c\u671f\u5f85\u3067\u304d\u307e\u3059\u3002\u65e9\u304f\u88c5\u7528\u3059\u308b\u307b\u3069\u3001\u3053\u3068\u3070\u306e\u767a\u9054\u306b\u6709\u5229\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">Q. \u8033\u4ee5\u5916\u306b\u75c7\u72b6\u306f\u51fa\u307e\u3059\u304b\uff1f<\/h3>\n\n\n\n<p>A. \u51fa\u307e\u305b\u3093\u3002\u96e3\u8074\u3060\u3051\u306e\u300c\u975e\u75c7\u5019\u6027\u96e3\u8074\u300d\u3067\u3059\u3002\u3081\u307e\u3044\u3084\u8996\u529b\u306e\u554f\u984c\u3001\u814e\u81d3\u306e\u75c7\u72b6\u306f\u4f34\u3044\u307e\u305b\u3093\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. \u539f\u56e0\u3068\u306a\u308b\u907a\u4f1d\u5b50\u306b\u3088\u3063\u3066\u3001\u4eba\u5de5\u5185\u8033\u306e\u52b9\u679c\u306e\u898b\u901a\u3057\u3084\u3001\u9032\u884c\u3059\u308b\u304b\u3069\u3046\u304b\u304c\u5206\u304b\u308b\u305f\u3081\u3067\u3059\u3002\u65e5\u672c\u3067\u306f\u4fdd\u967a\u3067\u53d7\u3051\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">Q. \u9032\u884c\u3057\u307e\u3059\u304b\uff1f<\/h3>\n\n\n\n<p>A. \u3053\u306e\u578b\u3067\u306f\u5148\u5929\u6027\u3067\u3001\u9032\u884c\u3057\u306a\u3044\u3053\u3068\u304c\u591a\u3044\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">Q. \u6b21\u306e\u5b50\u3082\u540c\u3058\u96e3\u8074\u306b\u306a\u308a\u307e\u3059\u304b\uff1f<\/h3>\n\n\n\n<p>A. \u5e38\u67d3\u8272\u4f53\u6f5c\u6027\uff08\u52a3\u6027\uff09\u907a\u4f1d\u3067\u3059\u3002\u3054\u4e21\u89aa\u304c\u3069\u3061\u3089\u3082\u30ad\u30e3\u30ea\u30a2\uff08\u4fdd\u56e0\u8005\uff09\u306e\u5834\u5408\u3001\u598a\u5a20\u306e\u305f\u3073\u306b4\u5206\u306e1\u306e\u78ba\u7387\u3067\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>Kurima K, Peters LM, Yang Y, et al. Dominant and recessive deafness caused by mutations of a novel gene, TMC1, required for cochlear hair-cell function. <em>Nat Genet<\/em>. 2002;30(3):277-284.<\/li>\n\n\n\n<li>Pan B, G\u00e9l\u00e9oc GS, Asai Y, et al. TMC1 and TMC2 are components of the mechanotransduction channel in hair cells of the mammalian inner ear. <em>Neuron<\/em>. 2013;79(3):504-515.<\/li>\n\n\n\n<li>Usami S, Nishio SY. The genetic etiology of hearing loss in Japan revealed by the social health insurance-based genetic testing of 10K patients. <em>Hum Genet<\/em>. 2022;141(3-4):665-681.<\/li>\n\n\n\n<li>OMIM #600974 Deafness, autosomal recessive 7<\/li>\n\n\n<\/ul>\n","protected":false},"featured_media":0,"menu_order":0,"template":"page_gd.php","class_list":["post-136702","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\/136702","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\/136702\/revisions"}],"predecessor-version":[{"id":137072,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/136702\/revisions\/137072"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=136702"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}