{"id":61576,"date":"2023-09-01T13:25:05","date_gmt":"2023-09-01T04:25:05","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?post_type=genetic-diseases&#038;p=61576"},"modified":"2026-05-08T13:58:15","modified_gmt":"2026-05-08T04:58:15","slug":"deafness-autosomal-recessive-77","status":"publish","type":"genetic-diseases","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/deafness-autosomal-recessive-77\/","title":{"rendered":"\u96e3\u8074\u3001\u5e38\u67d3\u8272\u4f53\u52a3\u602777"},"content":{"rendered":"\n<div style=\"height:30px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p class=\"has-text-align-center\"><sup>\u5e38\u67d3\u8272\u4f53\u52a3\u6027\u96e3\u807477\u578b\uff08DFNB77\uff09\u306f\u3001LOXHD1\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u308b\u307e\u308c\u306a\u9032\u884c\u6027\u306e\u611f\u97f3\u6027\u96e3\u8074\u3067\u3059\u3002\u767a\u75c7\u5e74\u9f62\u3084\u75c7\u72b6\u306e\u9032\u884c\u5ea6\u306f\u500b\u4eba\u5dee\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u591a\u304f\u306e\u60a3\u8005\u3067\u9ad8\u97f3\u57df\u306e\u8074\u529b\u304c\u5f90\u3005\u306b\u4f4e\u4e0b\u3057\u307e\u3059\u3002\u907a\u4f1d\u5b50\u8a3a\u65ad\u3084\u4eba\u5de5\u5185\u8033\u306b\u3088\u308b\u6cbb\u7642\u306e\u53ef\u80fd\u6027\u306b\u3064\u3044\u3066\u8a73\u3057\u304f\u89e3\u8aac\u3057\u307e\u3059\u3002<\/sup><\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u907a\u4f1d\u5b50\u30fb\u75be\u60a3\u540d<\/h2>\n\n\n\n<p>LOXHD1\uff5cDeafness, Autosomal Recessive 77<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u6982\u8981 | Overview<\/h2>\n\n\n\n<p>\u5e38\u67d3\u8272\u4f53\u52a3\u6027\u96e3\u807477\u578b\uff08DFNB77\uff09\u306f\u3001<strong>LOXHD1<\/strong>\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u308b\u307e\u308c\u306a\u9032\u884c\u6027\u306e\u975e\u75c7\u5019\u6027\u611f\u97f3\u6027\u96e3\u8074\uff08NSHL\uff09\u3067\u3059\u3002\u3053\u306e\u75be\u60a3\u306f\u767a\u75c7\u304c\u9045\u308c\u308b\u3053\u3068\u304c\u591a\u3044\u3082\u306e\u306e\u3001\u9032\u884c\u6027\u3067\u3042\u308a\u3001\u8efd\u5ea6\u304b\u3089\u91cd\u5ea6\u307e\u3067\u306e\u8074\u529b\u969c\u5bb3\u3092\u5f15\u304d\u8d77\u3053\u3057\u307e\u3059\u3002<strong>LOXHD1<\/strong>\u907a\u4f1d\u5b50\u306f\u67d3\u8272\u4f5318q12-21\u306b\u4f4d\u7f6e\u3057\u3001\u5185\u8033\u306e\u6709\u6bdb\u7d30\u80de\u306e\u7dad\u6301\u3068\u6a5f\u80fd\u306b\u5fc5\u8981\u306a<strong>\u30ea\u30dd\u30ad\u30b7\u30b2\u30ca\u30fc\u30bc\u76f8\u540c\u6027\u30c9\u30e1\u30a4\u30f31\uff08LOXHD1\uff09<\/strong><strong>\u30bf\u30f3\u30d1\u30af\u8cea\u3092\u30b3\u30fc\u30c9\u3057\u3066\u3044\u307e\u3059\u3002\u3053\u306e\u30bf\u30f3\u30d1\u30af\u8cea\u306f\u3001\u7d30\u80de\u819c\u3068\u306e\u76f8\u4e92\u4f5c\u7528\u3092\u5a92\u4ecb\u3059\u308b<\/strong><strong>PLAT\uff08\u30dd\u30ea\u30b7\u30b9\u30c1\u30f3-1\u3001\u30ea\u30dd\u30ad\u30b7\u30b2\u30ca\u30fc\u30bc\u3001\u03b1-\u30c8\u30ad\u30b7\u30f3\uff09\u30c9\u30e1\u30a4\u30f3<\/strong>\u309215\u500b\u6301\u3061\u3001\u6b63\u5e38\u306a\u8074\u899a\u6a5f\u80fd\u306b\u91cd\u8981\u306a\u5f79\u5272\u3092\u679c\u305f\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>DFNB77\u306f\u4e16\u754c\u4e2d\u3067\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u304c\u3001\u305d\u306e\u81e8\u5e8a\u7684\u7279\u5fb4\u306f\u60a3\u8005\u306b\u3088\u3063\u3066\u5927\u304d\u304f\u7570\u306a\u308a\u307e\u3059\u3002\u767a\u75c7\u5e74\u9f62\u306f\u5e7c\u5c11\u671f\u304b\u3089\u6210\u4eba\u671f\u307e\u3067\u3055\u307e\u3056\u307e\u3067\u3042\u308a\u3001\u8074\u529b\u969c\u5bb3\u306e\u7a0b\u5ea6\u3082\u8efd\u5ea6\u304b\u3089\u91cd\u5ea6\u307e\u3067\u5e45\u304c\u3042\u308a\u307e\u3059\u3002\u591a\u304f\u306e\u60a3\u8005\u3067\u306f<strong>\u4f4e\u5468\u6ce2\u6570\uff08250Hz\uff5e500Hz\uff09\u3067\u8efd\u5ea6\u304b\u3089\u4e2d\u7b49\u5ea6\u306e\u96e3\u8074\u304c\u898b\u3089\u308c\u3001\u9ad8\u5468\u6ce2\u6570\u3067\u306f\u3088\u308a\u6df1\u523b\u306a\u8074\u529b\u4f4e\u4e0b\u3092\u793a\u3059\u4e0b\u964d\u578b\u30aa\u30fc\u30b8\u30aa\u30b0\u30e9\u30e0<\/strong>\u304c\u89b3\u5bdf\u3055\u308c\u307e\u3059\u3002<strong>LOXHD1<\/strong>\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306e\u7d44\u307f\u5408\u308f\u305b\u306b\u3088\u3063\u3066\u3001\u96e3\u8074\u306e\u91cd\u75c7\u5ea6\u3084\u9032\u884c\u901f\u5ea6\u304c\u5f71\u97ff\u3092\u53d7\u3051\u308b\u53ef\u80fd\u6027\u304c\u793a\u5506\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u75ab\u5b66 | Epidemiology<\/h2>\n\n\n\n<p>\u96e3\u8074\u306f\u6700\u3082\u4e00\u822c\u7684\u306a\u611f\u899a\u969c\u5bb3\u306e\u4e00\u3064\u3067\u3042\u308a\u3001<strong>\u4e16\u754c\u3067\u7d044\u51046600\u4e07\u4eba\u304c\u5f71\u97ff\u3092\u53d7\u3051\u3066\u304a\u308a\u3001\u305d\u306e\u3046\u3061\u7d047\uff05\u304c\u5b50\u3069\u3082<\/strong>\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u5148\u5929\u6027\u96e3\u8074\u306e\u767a\u751f\u7387\u306f<strong>\u65b0\u751f\u51501000\u4eba\u3042\u305f\u308a1\uff5e2\u4eba<\/strong>\u3068\u63a8\u5b9a\u3055\u308c\u3066\u304a\u308a\u3001\u305d\u306e\u3046\u3061<strong>\u5c11\u306a\u304f\u3068\u308250\uff05\u304c\u907a\u4f1d\u7684\u8981\u56e0\u306b\u8d77\u56e0<\/strong>\u3059\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002\u73fe\u5728\u307e\u3067\u306b<strong>120\u7a2e\u985e\u4ee5\u4e0a\u306e\u907a\u4f1d\u5b50\u304c\u975e\u75c7\u5019\u6027\u611f\u97f3\u6027\u96e3\u8074\uff08NSHL\uff09\u306b\u95a2\u4e0e\u3057\u3066\u3044\u308b<\/strong>\u3068\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u3055\u3089\u306b\u300165\uff05\u4ee5\u4e0a\u306eNSHL\u304c\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d\uff08ARNSHL\uff09\u306b\u3088\u308b\u3082\u306e\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>LOXHD1<\/strong>\u907a\u4f1d\u5b50\u306f<strong>2009\u5e74\u306bDFNB77\u3068\u306e\u95a2\u9023\u304c\u5831\u544a<\/strong>\u3055\u308c\u307e\u3057\u305f\u3002\u73fe\u5728\u307e\u3067\u306b\u7d04<strong>100\u4f8b<\/strong>\u306eDFNB77\u75c7\u4f8b\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u304c\u3001\u8a3a\u65ad\u304c\u898b\u9003\u3055\u308c\u3066\u3044\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u3001\u6b63\u78ba\u306a\u6709\u75c5\u7387\u306f\u4e0d\u660e\u3067\u3059\u3002\u7814\u7a76\u3067\u306f\u3001<strong>68.5%\u306eDFNB77\u60a3\u8005\u304c5\u6b73\u4ee5\u524d\u306b\u767a\u75c7\u3057\u300162%\u304c\u4e0b\u964d\u578b\u30aa\u30fc\u30b8\u30aa\u30b0\u30e9\u30e0\u3092\u793a\u3059<\/strong>\u3053\u3068\u304c\u78ba\u8a8d\u3055\u308c\u3066\u3044\u307e\u3059\u3002<strong>LOXHD1<\/strong>\u306e\u5909\u7570\u306f\u4e16\u754c\u4e2d\u306e\u3055\u307e\u3056\u307e\u306a\u6c11\u65cf\u96c6\u56e3\u3067\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u304c\u3001\u30d1\u30ad\u30b9\u30bf\u30f3\u3084\u4e2d\u6771\u5730\u57df\u306e\u4e00\u90e8\u306a\u3069\u3001\u8fd1\u89aa\u5a5a\u306e\u983b\u5ea6\u304c\u9ad8\u3044\u96c6\u56e3\u3067\u306f\u767a\u75c7\u7387\u304c\u9ad8\u3044\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u75c5\u56e0 | Etiology<\/h2>\n\n\n\n<p>DFNB77\u306f\u3001<strong>LOXHD1<\/strong>\u907a\u4f1d\u5b50\u306e<strong>\u4e21\u30a2\u30ec\u30eb\u306b\u75c5\u7684\u306a\u5909\u7570\u304c\u5b58\u5728<\/strong>\u3059\u308b\u3053\u3068\u306b\u3088\u3063\u3066\u767a\u75c7\u3057\u307e\u3059\u3002\u3053\u308c\u3089\u306e\u5909\u7570\u306b\u306f\u3001\u30df\u30b9\u30bb\u30f3\u30b9\uff08\u30a2\u30df\u30ce\u9178\u7f6e\u63db\uff09\u3001\u30ca\u30f3\u30bb\u30f3\u30b9\uff08\u65e9\u671f\u7d42\u6b62\uff09\u3001\u30d5\u30ec\u30fc\u30e0\u30b7\u30d5\u30c8\uff08\u30d5\u30ec\u30fc\u30e0\u304c\u305a\u308c\u308b\uff09\u3001\u30b9\u30d7\u30e9\u30a4\u30b7\u30f3\u30b0\u5909\u7570\uff08RNA\u52a0\u5de5\u306e\u7570\u5e38\uff09\u306a\u3069\u304c\u3042\u308a\u307e\u3059\u3002\u7279\u306b\u3001<strong>PLAT\u30c9\u30e1\u30a4\u30f3\uff08\u7279\u306bPLAT 9\uff09\u306e\u5909\u7570\u304cDFNB77\u3068\u5f37\u304f\u95a2\u9023<\/strong>\u3057\u3066\u304a\u308a\u3001\u7d30\u80de\u819c\u3078\u306e\u9069\u5207\u306a\u5c40\u5728\u3084\u30bf\u30f3\u30d1\u30af\u8cea\u9593\u306e\u76f8\u4e92\u4f5c\u7528\u304c\u963b\u5bb3\u3055\u308c\u308b\u3053\u3068\u304c\u793a\u5506\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u307e\u305f\u3001<strong>LOXHD1<\/strong>\u306e\u30db\u30e2\u63a5\u5408\uff08\u540c\u3058\u5909\u7570\u304c\u4e21\u89aa\u304b\u3089\u53d7\u3051\u7d99\u304c\u308c\u308b\uff09\u3067\u306f\u3088\u308a\u91cd\u5ea6\u306e\u96e3\u8074\u3092\u5f15\u304d\u8d77\u3053\u3057\u3001<strong>\u30d8\u30c6\u30ed\u63a5\u5408\u6027\uff08\u7570\u306a\u308b2\u3064\u306e\u5909\u7570\u3092\u6301\u3064\uff09\u3067\u306f\u6bd4\u8f03\u7684\u8efd\u5ea6\u306e\u75c7\u72b6<\/strong>\u3092\u793a\u3059\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u3002\u7279\u306b\u3001<strong>\u30df\u30b9\u30bb\u30f3\u30b9\u5909\u7570\u3068\u30b9\u30d7\u30e9\u30a4\u30b7\u30f3\u30b0\u5909\u7570\u306e\u7d44\u307f\u5408\u308f\u305b<\/strong>\u3092\u6301\u3064\u60a3\u8005\u306f\u3001\u3088\u308a\u8efd\u5ea6\u306e\u75c7\u72b6\u3092\u793a\u3059\u3053\u3068\u304c\u591a\u3044\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u52a0\u9f62\u3068\u3068\u3082\u306b\u3059\u3079\u3066\u306e\u5468\u6ce2\u6570\u5e2f\u3067\u8074\u529b\u304c\u60aa\u5316\u3059\u308b\u4f8b\u304c\u591a\u304f\u5831\u544a\u3055\u308c\u3066\u304a\u308a\u3001\u65e9\u671f\u306e\u907a\u4f1d\u5b50\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u3068\u9069\u5207\u306a\u4ecb\u5165\u304c\u91cd\u8981\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<h2 class=\"wp-block-heading\">\u75c7\u72b6 | Symptoms<\/h2>\n\n\n\n<p>DFNB77\u306f<strong>\u9032\u884c\u6027\u306e\u4e21\u5074\u6027\u611f\u97f3\u6027\u96e3\u8074<\/strong>\u3068\u3057\u3066\u73fe\u308c\u307e\u3059\u3002\u75c7\u72b6\u306f\u500b\u4eba\u306b\u3088\u3063\u3066\u7570\u306a\u308a\u307e\u3059\u304c\u3001\u4ee5\u4e0b\u306e\u3088\u3046\u306a\u7279\u5fb4\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u767a\u75c7\u306f<strong>\u4e73\u5e7c\u5150\u671f\u307e\u305f\u306f\u5b66\u7ae5\u671f\u4ee5\u964d<\/strong>\u3068\u3055\u307e\u3056\u307e\u3067\u3001\u9032\u884c\u6027\u306e\u305f\u3081\u5f90\u3005\u306b\u60aa\u5316\u3057\u307e\u3059\u3002<strong>\u521d\u671f\u306b\u306f\u8efd\u5ea6\u304b\u3089\u4e2d\u7b49\u5ea6\u306e\u96e3\u8074\u3092\u793a\u3057\u3001\u9ad8\u5468\u6ce2\u57df\u3067\u7279\u306b\u9855\u8457\u306a\u8074\u529b\u4f4e\u4e0b<\/strong>\u304c\u898b\u3089\u308c\u307e\u3059\u3002\u30aa\u30fc\u30b8\u30aa\u30b0\u30e9\u30e0\u3067\u306f\u3001<strong>\u4f4e\u97f3\u57df\u306e\u8074\u529b\u306f\u6bd4\u8f03\u7684\u4fdd\u6301\u3055\u308c\u3001\u9ad8\u97f3\u57df\u3067\u3088\u308a\u9855\u8457\u306a\u8074\u529b\u4f4e\u4e0b\u3092\u793a\u3059\u4e0b\u964d\u578b<\/strong>\u306e\u30d1\u30bf\u30fc\u30f3\u304c\u4e00\u822c\u7684\u3067\u3059\u3002<strong>\u75c7\u5019\u6027\u306e\u7279\u5fb4\u306f\u306a\u304f\u3001\u4ed6\u306e\u8eab\u4f53\u7684\u7570\u5e38\u306f\u4f34\u308f\u306a\u3044<\/strong>\u305f\u3081\u3001\u907a\u4f1d\u5b50\u691c\u67fb\u306b\u3088\u308b\u8a3a\u65ad\u304c\u91cd\u8981\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u691c\u67fb\u30fb\u8a3a\u65ad | Tests &amp; Diagnosis<\/h2>\n\n\n\n<p>DFNB77\u306e\u8a3a\u65ad\u306b\u306f\u3001\u4ee5\u4e0b\u306e\u691c\u67fb\u304c\u7528\u3044\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u907a\u4f1d\u5b50\u691c\u67fb\u3068\u3057\u3066\u3001<strong>\u5168\u30a8\u30af\u30bd\u30fc\u30e0\u30b7\u30fc\u30b1\u30f3\u30b9\uff08WES\uff09<\/strong><strong>\u3084<\/strong><strong>LOXHD1\u907a\u4f1d\u5b50\u306e\u6a19\u7684\u30b7\u30fc\u30b1\u30f3\u30b9\u89e3\u6790<\/strong>\u304c\u884c\u308f\u308c\u307e\u3059\u3002\u3053\u308c\u306b\u3088\u308a\u3001\u75c5\u7684\u5909\u7570\u306e\u6709\u7121\u3092\u78ba\u8a8d\u3057\u3001\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3092\u63d0\u4f9b\u3059\u308b\u3053\u3068\u304c\u53ef\u80fd\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u8074\u899a\u691c\u67fb\u3067\u306f\u3001\u7d14\u97f3\u8074\u529b\u691c\u67fb\uff08PTA\uff09\u3067\u5404\u5468\u6ce2\u6570\u306e\u8074\u529b\u3092\u6e2c\u5b9a\u3057\u3001\u591a\u304f\u306e\u60a3\u8005\u3067\u4e0b\u964d\u578b\u30aa\u30fc\u30b8\u30aa\u30b0\u30e9\u30e0\u304c\u78ba\u8a8d\u3055\u308c\u307e\u3059\u3002<strong>\u8a9e\u97f3\u8074\u529b\u691c\u67fb<\/strong>\u3067\u306f\u3001\u8a00\u8449\u306e\u8a8d\u8b58\u80fd\u529b\u3092\u8a55\u4fa1\u3057\u307e\u3059\u3002\u307e\u305f\u3001\u8033\u97f3\u97ff\u653e\u5c04\uff08OAE\uff09<strong>\u3084<\/strong>\u8074\u6027\u8133\u5e79\u53cd\u5fdc\uff08ABR\uff09\u304c\u82e5\u5e74\u306e\u60a3\u8005\u306b\u5bfe\u3057\u3066\u884c\u308f\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u6cbb\u7642\u6cd5\u3068\u7ba1\u7406 | Treatment &amp; Management<\/h2>\n\n\n\n<p>DFNB77\u306e\u6cbb\u7642\u306b\u306f\u3001\u88dc\u8074\u5668\u3084\u4eba\u5de5\u5185\u8033\uff08CI\uff09\u304c\u4f7f\u7528\u3055\u308c\u307e\u3059\u3002\u8efd\u5ea6\u304b\u3089\u4e2d\u7b49\u5ea6\u306e\u96e3\u8074\u306e\u60a3\u8005\u306b\u306f\u88dc\u8074\u5668\u304c\u6709\u52b9\u3067\u3059\u304c\u3001<strong>\u91cd\u5ea6\u304b\u3089\u9ad8\u5ea6\u306e\u96e3\u8074\u306b\u306f\u4eba\u5de5\u5185\u8033\u304c\u63a8\u5968<\/strong>\u3055\u308c\u307e\u3059\u3002\u7279\u306b\u3001<strong>3.5\u6b73\u4ee5\u524d\u306b\u4eba\u5de5\u5185\u8033\u3092\u88c5\u7528\u3059\u308b\u3068\u3001\u8a00\u8a9e\u767a\u9054\u306b\u826f\u3044\u5f71\u97ff\u3092\u4e0e\u3048\u308b<\/strong>\u3053\u3068\u304c\u793a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u307e\u305f\u3001<strong>\u8074\u899a\u53e3\u8a71\u7642\u6cd5<\/strong>\u3092\u53d7\u3051\u308b\u3053\u3068\u3067\u3001\u805e\u3053\u3048\u306e\u8a13\u7df4\u3092\u884c\u3044\u3001\u8a00\u8a9e\u767a\u9054\u3092\u4fc3\u3059\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002<strong>\u8aad\u8a71\uff08\u30ea\u30c3\u30d7\u30ea\u30fc\u30c7\u30a3\u30f3\u30b0\uff09\u3084\u624b\u8a71<\/strong>\u306e\u7fd2\u5f97\u3082\u3001\u91cd\u5ea6\u306e\u96e3\u8074\u60a3\u8005\u306b\u306f\u6709\u76ca\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3067\u306f\u3001<strong>\u5bb6\u65cf\u306e\u767a\u75c7\u30ea\u30b9\u30af\u306e\u8a55\u4fa1\u3084<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">\u51fa\u751f\u524d\u8a3a\u65ad<\/a><\/strong>\u304c\u884c\u308f\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u5c06\u6765\u7684\u306b\u306f\u3001<strong>\u907a\u4f1d\u5b50\u6cbb\u7642\u3084\u5e79\u7d30\u80de\u6cbb\u7642<\/strong>\u304c\u6cbb\u7642\u9078\u629e\u80a2\u3068\u3057\u3066\u671f\u5f85\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u4e88\u5f8c | Prognosis<\/h2>\n\n\n\n<p>DFNB77\u306e\u9032\u884c\u901f\u5ea6\u3084\u91cd\u75c7\u5ea6\u306f\u500b\u4eba\u5dee\u304c\u3042\u308a\u307e\u3059\u304c\u3001<strong>\u65e9\u671f\u8a3a\u65ad\u3068\u9069\u5207\u306a\u4ecb\u5165\u306b\u3088\u3063\u3066\u751f\u6d3b\u306e\u8cea\u3092\u5411\u4e0a\u3055\u305b\u308b\u3053\u3068\u304c\u53ef\u80fd<\/strong>\u3067\u3059\u3002\u7279\u306b\u3001<strong>\u5e7c\u5150\u671f\u306e\u4eba\u5de5\u5185\u8033\u88c5\u7528<\/strong>\u306b\u3088\u308a\u3001\u8a00\u8a9e\u7fd2\u5f97\u80fd\u529b\u304c\u5927\u5e45\u306b\u5411\u4e0a\u3057\u307e\u3059\u3002\u907a\u4f1d\u5b50\u6cbb\u7642\u306e\u7814\u7a76\u304c\u9032\u3081\u3070\u3001\u3055\u3089\u306a\u308b\u6cbb\u7642\u306e\u53ef\u80fd\u6027\u304c\u5e83\u304c\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u5f15\u7528\u6587\u732e\uff5cReferences<\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><a href=\"https:\/\/doi.org\/10.1016\/j.ijporl.2021.110715\">Yu, S., Chen, W., Zhang, Y.-F., Chen, C., Ni, Y., Duan, B., Wang, H., &amp; Xu, Z. (2021). Recessive LOXHD1 variants cause a prelingual down-sloping hearing loss: Genotype-phenotype correlation and three additional children with novel variants. <em>International Journal of Pediatric Otorhinolaryngology<\/em>, <em>145<\/em>, 110715. https:\/\/doi.org\/10.1016\/j.ijporl.2021.110715<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1007\/s13258-022-01349-3\">Choi, H.J., Kanwal, S., Hameed, R. <em>et al.<\/em> Biallelic mutations in pakistani families with autosomal recessive prelingual nonsyndromic hearing loss. <em>Genes Genom<\/em> <strong>45<\/strong>, 145\u2013156 (2023). https:\/\/doi.org\/10.1007\/s13258-022-01349-3<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.3390\/ijms23116029\">Ozi\u0119b\u0142o, D., Ba\u0142dyga, N., Leja, M. L., Skar\u017cy\u0144ski, H., &amp; O\u0142dak, M. (2022). Searching for the molecular basis of partial deafness. <em>International Journal of Molecular Sciences<\/em>, <em>23<\/em>(11), 6029. https:\/\/doi.org\/10.3390\/ijms23116029<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1002\/mgg3.2434\">Ma, P., Zhou, B., Kang, Q., Chen, X., Tian, X., Hui, L., Hao, S., Wu, H., &amp; Zhang, C. (2024). Mutation spectrum of hearing loss patients in Northwest China: Identification of 20 novel variants. <em>Molecular Genetics &amp; Genomic Medicine<\/em>, <em>12<\/em>(6), e2434. https:\/\/doi.org\/10.1002\/mgg3.2434<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.4103\/indianjotol.indianjotol_115_21\">Koohiyan, M., Hoseini, M., &amp; Azadegan-Dehkordi, F. (2022). An update on autosomal recessive hearing loss and loci involved in it. <em>Indian Journal of Otology<\/em>, <em>28<\/em>(1), 6\u201317. https:\/\/doi.org\/10.4103\/indianjotol.indianjotol_115_21<\/a><\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\">\u30ad\u30fc\u30ef\u30fc\u30c9\uff5cKeywords<\/h2>\n\n\n\n<p class=\"has-text-align-center\"><sup><sup>DFNB77, LOXHD1, \u907a\u4f1d\u6027\u96e3\u8074, \u611f\u97f3\u6027\u96e3\u8074, \u9032\u884c\u6027\u96e3\u8074, \u907a\u4f1d\u5b50\u8a3a\u65ad, \u4eba\u5de5\u5185\u8033, \u88dc\u8074\u5668, PLAT\u30c9\u30e1\u30a4\u30f3, \u96e3\u8074\u306e\u6cbb\u7642, \u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0, \u8074\u899a\u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3<\/sup><\/sup><\/p>\n","protected":false},"featured_media":0,"menu_order":0,"template":"page_gd.php","class_list":["post-61576","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\/61576","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":9,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/61576\/revisions"}],"predecessor-version":[{"id":128122,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/61576\/revisions\/128122"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=61576"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}