{"id":33585,"date":"2022-07-11T17:05:27","date_gmt":"2022-07-11T08:05:27","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?page_id=33585"},"modified":"2026-04-28T13:57:12","modified_gmt":"2026-04-28T04:57:12","slug":"usher-syndrome-type-1f","status":"publish","type":"genetic-diseases","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/usher-syndrome-type-1f\/","title":{"rendered":"\u30a2\u30c3\u30b7\u30e3\u30fc\u75c7\u5019\u7fa4\uff08\u30bf\u30a4\u30d71F\uff09"},"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>Usher\u75c7\u5019\u7fa41F\u578b\uff08USH1F\uff09\u306f\u3001PCDH15\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u308a\u767a\u75c7\u3059\u308b\u307e\u308c\u306a\u907a\u4f1d\u6027\u75be\u60a3\u3067\u3001\u751f\u307e\u308c\u3064\u304d\u306e\u611f\u97f3\u6027\u96e3\u8074\u3001\u524d\u5ead\u6a5f\u80fd\u4e0d\u5168\u306b\u3088\u308b\u30d0\u30e9\u30f3\u30b9\u969c\u5bb3\u3001\u9032\u884c\u6027\u306e\u7db2\u819c\u8272\u7d20\u5909\u6027\uff08RP\uff09\u3092\u7279\u5fb4\u3068\u3057\u307e\u3059\u3002\u672c\u8a18\u4e8b\u3067\u306f\u3001USH1F\u306e\u539f\u56e0\u3001\u75c7\u72b6\u3001\u8a3a\u65ad\u3001\u6cbb\u7642\u6cd5\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>PCDH15\uff5cUsher Syndrome, Type 1F<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u6982\u8981 | Overview<\/h2>\n\n\n\n<p>Usher\u75c7\u5019\u7fa41F\u578b\uff08USH1F\uff09\u306f\u3001<em>PCDH15<\/em>\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u308b\u307e\u308c\u306a\u5e38\u67d3\u8272\u4f53\u52a3\u6027\u75be\u60a3\u3067\u3059\u3002<em>PCDH15<\/em>\u907a\u4f1d\u5b50\u306f\u30d7\u30ed\u30c8\u30ab\u30c9\u30d8\u30ea\u30f3-15\uff08protocadherin-15\uff09\u3068\u3044\u3046\u69cb\u9020\u30bf\u30f3\u30d1\u30af\u8cea\u3092\u30b3\u30fc\u30c9\u3057\u3066\u304a\u308a\u3001\u4e3b\u306b\u5185\u8033\uff08\u8778\u725b\uff09\u3068\u7db2\u819c\u306e\u6a5f\u80fd\u306b\u95a2\u4e0e\u3057\u3066\u3044\u307e\u3059\u3002\u3053\u306e\u30bf\u30f3\u30d1\u30af\u8cea\u306f\u3001\u30ab\u30eb\u30b7\u30a6\u30e0\u4f9d\u5b58\u6027\u306e\u7d30\u80de\u9593\u63a5\u7740\u3092\u4ef2\u4ecb\u3057\u3001\u7279\u306b\u5185\u8033\u306e\u611f\u899a\u7d30\u80de\u306b\u304a\u3044\u3066\u6a5f\u68b0\u523a\u6fc0\u3092\u795e\u7d4c\u4fe1\u53f7\u306b\u5909\u63db\u3059\u308b\u5f79\u5272\u3092\u62c5\u3063\u3066\u3044\u307e\u3059\u3002USH1F\u306e\u4e3b\u306a\u7279\u5fb4\u3068\u3057\u3066\u3001\u751f\u307e\u308c\u3064\u304d\u306e\u611f\u97f3\u6027\u96e3\u8074\u3001\u524d\u5ead\u6a5f\u80fd\u4e0d\u5168\u306b\u3088\u308b\u30d0\u30e9\u30f3\u30b9\u969c\u5bb3\u3001\u304a\u3088\u3073\u9032\u884c\u6027\u306e\u7db2\u819c\u8272\u7d20\u5909\u6027\uff08retinitis pigmentosa, RP\uff09\u304c\u6319\u3052\u3089\u308c\u307e\u3059\u3002RP\u306f\u601d\u6625\u671f\u304b\u3089\u6210\u4eba\u671f\u306b\u304b\u3051\u3066\u8996\u91ce\u72ed\u7a84\u3092\u5f15\u304d\u8d77\u3053\u3057\u3001\u6700\u7d42\u7684\u306b\u306f\u4e2d\u5e74\u671f\u307e\u3067\u306b\u9ad8\u5ea6\u306e\u8996\u529b\u969c\u5bb3\u306b\u81f3\u308b\u3053\u3068\u304c\u591a\u3044\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002Usher\u75c7\u5019\u7fa4\u306f\u907a\u4f1d\u7684\u8981\u56e0\u306b\u3088\u308b\u96e3\u8074\u30fb\u8996\u899a\u969c\u5bb3\u306e\u4e2d\u3067\u6700\u3082\u4e00\u822c\u7684\u306a\u75be\u60a3\u3067\u3042\u308a\u3001\u305d\u306e\u3046\u3061USH1F\u306f\u5168\u4f53\u306e3\uff5e11\uff05\u3092\u5360\u3081\u308b\u3068\u63a8\u5b9a\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>Usher\u75c7\u5019\u7fa4\u306f\u5168\u4e16\u754c\u3067\u7d043\u4e07\u4eba\u306b1\u4eba\u306e\u5272\u5408\u3067\u767a\u75c7\u3059\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u304c\u3001\u5730\u7406\u7684\u30fb\u907a\u4f1d\u7684\u8981\u56e0\u306b\u3088\u3063\u30661\u4e07\u4eba\u3042\u305f\u308a1\uff5e17\u4eba\u3068\u767a\u751f\u7387\u306b\u306f\u3070\u3089\u3064\u304d\u304c\u3042\u308a\u307e\u3059\u3002Usher\u75c7\u5019\u7fa4\u306e\u3046\u3061\u30011\u578b\uff08USH1\uff09\u306f\u7279\u306b\u91cd\u75c7\u306a\u30bf\u30a4\u30d7\u3067\u3042\u308a\u3001\u305d\u306e\u4e2d\u3067USH1F\u306f11\uff5e19\uff05\u3092\u5360\u3081\u308b\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u7279\u5b9a\u306e\u96c6\u56e3\u306b\u304a\u3044\u3066\u306f\u5275\u59cb\u8005\u52b9\u679c\uff08Founder effect\uff09\u306b\u3088\u3063\u3066\u767a\u75c7\u7387\u304c\u9ad8\u304f\u306a\u308b\u3053\u3068\u304c\u3042\u308a\u3001\u305f\u3068\u3048\u3070\u30a2\u30b7\u30e5\u30b1\u30ca\u30fc\u30b8\u7cfb\u30e6\u30c0\u30e4\u4eba\u3067\u306f\u3001<em>PCDH15<\/em>\u907a\u4f1d\u5b50\u306e\u7279\u5b9a\u306e\u5909\u7570\uff08\u30ca\u30f3\u30bb\u30f3\u30b9\u5909\u7570\uff09\u304c\u6bd4\u8f03\u7684\u9ad8\u983b\u5ea6\u306b\u8a8d\u3081\u3089\u308c\u307e\u3059\u3002\u3053\u306e\u96c6\u56e3\u3067\u306f\u3001\u4fdd\u56e0\u8005\u983b\u5ea6\u304c\u7d042\uff05\u3068\u63a8\u5b9a\u3055\u308c\u3066\u304a\u308a\u3001USH1\u75c7\u4f8b\u306e\u6700\u592760\uff05\u304c\u3053\u306e\u907a\u4f1d\u5b50\u5909\u7570\u306b\u95a2\u9023\u3057\u3066\u3044\u308b\u3068\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u307e\u305f\u3001Usher\u75c7\u5019\u7fa4\u306f\u5148\u5929\u6027\u96e3\u8074\u306e3\uff5e6\uff05\u3001RP\u306e8\uff5e33\uff05\u3092\u5360\u3081\u3066\u304a\u308a\u3001\u907a\u4f1d\u6027\u306e\u96e3\u8074\u30fb\u8996\u899a\u969c\u5bb3\u306e\u4e3b\u8981\u306a\u539f\u56e0\u306e\u3072\u3068\u3064\u3067\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u75c5\u56e0 | Etiology<\/h2>\n\n\n\n<p>USH1F\u306f\u3001<em>PCDH15<\/em>\u907a\u4f1d\u5b50\u306e\u4e21\u30a2\u30ec\u30eb\uff08\u30db\u30e2\u63a5\u5408\u6027\u307e\u305f\u306f\u8907\u5408\u30d8\u30c6\u30ed\u63a5\u5408\u6027\uff09\u306e\u5909\u7570\u306b\u3088\u3063\u3066\u767a\u75c7\u3057\u307e\u3059\u3002\u3053\u306e\u907a\u4f1d\u5b50\u306f10\u756a\u67d3\u8272\u4f53\u306e\u9577\u8155\uff0810q\uff09\u306b\u4f4d\u7f6e\u3057\u3001\u30d7\u30ed\u30c8\u30ab\u30c9\u30d8\u30ea\u30f3-15\u3068\u3044\u3046\u5927\u578b\u306e\u30ab\u30c9\u30d8\u30ea\u30f3\u95a2\u9023\u30bf\u30f3\u30d1\u30af\u8cea\u3092\u30b3\u30fc\u30c9\u3057\u3066\u3044\u307e\u3059\u3002\u30d7\u30ed\u30c8\u30ab\u30c9\u30d8\u30ea\u30f3-15\u306f\u3001\u8778\u725b\u306e\u6709\u6bdb\u7d30\u80de\u306b\u304a\u3051\u308b\u300c\u30c1\u30c3\u30d7\u30ea\u30f3\u30af\u300d\u3068\u547c\u3070\u308c\u308b\u5fae\u7d30\u306a\u7dda\u7dad\u69cb\u9020\u306e\u91cd\u8981\u306a\u69cb\u6210\u8981\u7d20\u3067\u3042\u308a\u3001\u30ab\u30c9\u30d8\u30ea\u30f3-23\uff08<em>CDH23<\/em>\uff09\u3068\u76f8\u4e92\u4f5c\u7528\u3059\u308b\u3053\u3068\u3067\u3001\u97f3\u306e\u632f\u52d5\u3092\u795e\u7d4c\u4fe1\u53f7\u306b\u5909\u63db\u3059\u308b\u5f79\u5272\u3092\u679c\u305f\u3057\u307e\u3059\u3002\u3053\u306e\u30c1\u30c3\u30d7\u30ea\u30f3\u30af\u304c\u6a5f\u80fd\u3057\u306a\u3044\u3068\u3001\u6709\u6bdb\u7d30\u80de\u306e\u50cd\u304d\u304c\u640d\u306a\u308f\u308c\u3001\u91cd\u5ea6\u306e\u611f\u97f3\u6027\u96e3\u8074\u3068\u524d\u5ead\u6a5f\u80fd\u4e0d\u5168\u3092\u5f15\u304d\u8d77\u3053\u3057\u307e\u3059\u3002\u307e\u305f\u3001\u30d7\u30ed\u30c8\u30ab\u30c9\u30d8\u30ea\u30f3-15\u306f\u7db2\u819c\u306e\u8996\u7d30\u80de\uff08\u30ed\u30c3\u30c9\u7d30\u80de\u3068\u30b3\u30fc\u30f3\u7d30\u80de\uff09\u306b\u3082\u767a\u73fe\u3057\u3066\u304a\u308a\u3001\u3053\u306e\u30bf\u30f3\u30d1\u30af\u8cea\u306e\u7570\u5e38\u306b\u3088\u3063\u3066\u8996\u7d30\u80de\u306e\u5909\u6027\u304c\u9032\u884c\u3057\u3001\u7db2\u819c\u8272\u7d20\u5909\u6027\u3092\u767a\u75c7\u3057\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>USH1F\u306f\u3001\u4ee5\u4e0b\u306e3\u3064\u306e\u4e3b\u8981\u306a\u75c7\u72b6\u3092\u7279\u5fb4\u3068\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u307e\u305a\u3001<strong>\u751f\u307e\u308c\u3064\u304d\u306e\u611f\u97f3\u6027\u96e3\u8074<\/strong>\u304c\u898b\u3089\u308c\u307e\u3059\u3002\u3053\u308c\u306f\u4e21\u8033\u3068\u3082\u306b\u9ad8\u5ea6\u304b\u3089\u91cd\u5ea6\u306e\u96e3\u8074\u3092\u4f34\u3044\u3001\u8074\u899a\u88dc\u52a9\u6a5f\u5668\uff08\u88dc\u8074\u5668\uff09\u3067\u306f\u5341\u5206\u306a\u97f3\u306e\u8a8d\u8b58\u304c\u96e3\u3057\u304f\u306a\u308a\u307e\u3059\u3002\u305d\u306e\u305f\u3081\u3001\u591a\u304f\u306e\u60a3\u8005\u3067\u306f\u65e9\u671f\u306e\u4eba\u5de5\u5185\u8033\uff08cochlear implant, CI\uff09\u306e\u57cb\u3081\u8fbc\u307f\u304c\u63a8\u5968\u3055\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u6b21\u306b\u3001**\u524d\u5ead\u6a5f\u80fd\u4e0d\u5168\uff08\u524d\u5ead\u7121\u53cd\u5c04\u75c7\uff09**\u306b\u3088\u3063\u3066\u30d0\u30e9\u30f3\u30b9\u611f\u899a\u304c\u640d\u306a\u308f\u308c\u307e\u3059\u3002\u3053\u306e\u305f\u3081\u3001\u904b\u52d5\u767a\u9054\u304c\u9045\u308c\u3001\u751f\u5f8c18\u304b\u6708\u4ee5\u964d\u306b\u306a\u3089\u306a\u3044\u3068\u72ec\u7acb\u6b69\u884c\u304c\u3067\u304d\u306a\u3044\u3053\u3068\u304c\u4e00\u822c\u7684\u3067\u3059\u3002\u307e\u305f\u3001\u30d0\u30e9\u30f3\u30b9\u3092\u53d6\u308b\u306e\u304c\u96e3\u3057\u304f\u3001\u8ee2\u5012\u306e\u30ea\u30b9\u30af\u304c\u9ad8\u304f\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u6700\u5f8c\u306b\u3001**\u9032\u884c\u6027\u306e\u7db2\u819c\u8272\u7d20\u5909\u6027\uff08RP\uff09**\u304c\u767a\u75c7\u3057\u307e\u3059\u3002\u901a\u5e38\u3001\u591c\u76f2\uff08\u6697\u6240\u3067\u306e\u8996\u529b\u4f4e\u4e0b\uff09\u304c\u6700\u521d\u306b\u73fe\u308c\u3001\u5b66\u7ae5\u671f\u304b\u3089\u9752\u5e74\u671f\u306b\u304b\u3051\u3066\u5468\u8fba\u8996\u91ce\u306e\u55aa\u5931\uff08\u30c8\u30f3\u30cd\u30eb\u8996\u91ce\uff09\u3092\u4f34\u3046\u8996\u529b\u969c\u5bb3\u304c\u9032\u884c\u3057\u307e\u3059\u3002\u6700\u7d42\u7684\u306b\u306f\u300150\u6b73\u3054\u308d\u307e\u3067\u306b\u9ad8\u5ea6\u306e\u8996\u529b\u4f4e\u4e0b\u306b\u81f3\u308b\u3053\u3068\u304c\u591a\u3044\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002RP\u306e\u75c5\u7406\u7684\u7279\u5fb4\u3068\u3057\u3066\u3001\u8996\u7d30\u80de\u306e\u4e2d\u3067\u3082\u307e\u305a\u30ed\u30c3\u30c9\u7d30\u80de\uff08\u687f\u4f53\u7d30\u80de\uff09\u304c\u969c\u5bb3\u3055\u308c\u3001\u305d\u306e\u5f8c\u30b3\u30fc\u30f3\u7d30\u80de\uff08\u9310\u4f53\u7d30\u80de\uff09\u306e\u6a5f\u80fd\u3082\u4f4e\u4e0b\u3057\u3001\u8996\u91ce\u306e\u72ed\u7a84\u304c\u9032\u884c\u3057\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>USH1F\u306e\u8a3a\u65ad\u306b\u306f\u3001\u8074\u899a\u3001\u524d\u5ead\u3001\u773c\u79d1\u7684\u691c\u67fb\u306b\u52a0\u3048\u3066\u907a\u4f1d\u5b50\u691c\u67fb\u304c\u5fc5\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u8074\u529b\u691c\u67fb\u3067\u306f\u3001\u751f\u5f8c\u3059\u3050\u306e\u65b0\u751f\u5150\u8074\u899a\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u3067\u96e3\u8074\u304c\u691c\u51fa\u3055\u308c\u3001\u8133\u5e79\u8074\u899a\u53cd\u5fdc\uff08ABR\uff09\u691c\u67fb\u306b\u3088\u3063\u3066\u8a3a\u65ad\u304c\u78ba\u5b9a\u3055\u308c\u307e\u3059\u3002\u524d\u5ead\u6a5f\u80fd\u306e\u8a55\u4fa1\u306b\u306f\u3001\u30d3\u30c7\u30aa\u773c\u632f\u8a18\u9332\uff08VNG\uff09\u3084\u56de\u8ee2\u6905\u5b50\u8a66\u9a13\u3092\u7528\u3044\u3001\u6c34\u5e73\u773c\u632f\u306e\u6d88\u5931\u3092\u78ba\u8a8d\u3057\u307e\u3059\u3002\u773c\u79d1\u691c\u67fb\u3068\u3057\u3066\u306f\u3001\u7db2\u819c\u96fb\u56f3\uff08ERG\uff09\u306b\u3088\u308a\u521d\u671f\u306e\u30ed\u30c3\u30c9\u7d30\u80de\u306e\u6a5f\u80fd\u4f4e\u4e0b\u3092\u691c\u51fa\u3067\u304d\u3001\u773c\u5e95\u691c\u67fb\u3067\u306f\u7db2\u819c\u8272\u7d20\u6c88\u7740\u304c\u8a8d\u3081\u3089\u308c\u307e\u3059\u3002\u8996\u91ce\u691c\u67fb\u3067\u306f\u3001\u9032\u884c\u6027\u306e\u5468\u8fba\u8996\u91ce\u306e\u72ed\u7a84\u3092\u78ba\u8a8d\u3067\u304d\u307e\u3059\u3002\u78ba\u5b9a\u8a3a\u65ad\u306e\u305f\u3081\u306b\u306f\u6b21\u4e16\u4ee3\u30b7\u30fc\u30b1\u30f3\u30b7\u30f3\u30b0\uff08NGS\uff09\u3092\u7528\u3044\u305f<em>PCDH15<\/em>\u907a\u4f1d\u5b50\u306e\u89e3\u6790\u304c\u63a8\u5968\u3055\u308c\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>USH1F\u306e\u6839\u6cbb\u7684\u6cbb\u7642\u6cd5\u306f\u73fe\u5728\u306e\u3068\u3053\u308d\u78ba\u7acb\u3055\u308c\u3066\u3044\u307e\u305b\u3093\u304c\u3001\u75c7\u72b6\u306e\u9032\u884c\u3092\u9045\u3089\u305b\u3001\u751f\u6d3b\u306e\u8cea\u3092\u5411\u4e0a\u3055\u305b\u308b\u305f\u3081\u306e\u7ba1\u7406\u304c\u91cd\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u8074\u899a\u306e\u88dc\u52a9\u3068\u3057\u3066\u30011\u6b73\u672a\u6e80\u3067\u306e\u4eba\u5de5\u5185\u8033\uff08CI\uff09\u306e\u65e9\u671f\u57cb\u3081\u8fbc\u307f\u304c\u63a8\u5968\u3055\u308c\u307e\u3059\u3002\u3057\u304b\u3057\u3001<em>PCDH15<\/em>\u5909\u7570\u304cCI\u306e\u52b9\u679c\u306b\u5f71\u97ff\u3092\u4e0e\u3048\u308b\u53ef\u80fd\u6027\u304c\u3042\u308b\u305f\u3081\u3001\u500b\u5225\u306e\u8a55\u4fa1\u304c\u5fc5\u8981\u3067\u3059\u3002\u8996\u899a\u969c\u5bb3\u306b\u5bfe\u3057\u3066\u306f\u3001\u4f4e\u8996\u529b\u88dc\u52a9\u5177\u3084\u70b9\u5b57\u6559\u80b2\u3001\u79fb\u52d5\u8a13\u7df4\u304c\u6709\u52b9\u3067\u3059\u3002\u73fe\u5728\u3001\u907a\u4f1d\u5b50\u6cbb\u7642\u306e\u7814\u7a76\u304c\u9032\u3093\u3067\u304a\u308a\u3001\u30a2\u30c7\u30ce\u968f\u4f34\u30a6\u30a4\u30eb\u30b9\uff08AAV\uff09\u3092\u7528\u3044\u305f\u907a\u4f1d\u5b50\u5c0e\u5165\u306b\u3088\u308b\u7db2\u819c\u6a5f\u80fd\u56de\u5fa9\u304c\u52d5\u7269\u5b9f\u9a13\u3067\u793a\u5506\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u5e79\u7d30\u80de\u7642\u6cd5\u3084\u7db2\u819c\u795e\u7d4c\u4fdd\u8b77\u85ac\u306e\u958b\u767a\u3082\u9032\u884c\u4e2d\u3067\u3059\u3002\u30d0\u30e9\u30f3\u30b9\u969c\u5bb3\u306b\u5bfe\u3057\u3066\u306f\u3001\u524d\u5ead\u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3\u304c\u6709\u52b9\u3067\u3042\u308a\u3001\u65e9\u671f\u306e\u904b\u52d5\u8a13\u7df4\u306b\u3088\u3063\u3066\u8ee2\u5012\u30ea\u30b9\u30af\u3092\u8efd\u6e1b\u3067\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u4e88\u5f8c | Prognosis<\/h2>\n\n\n\n<p>USH1F\u306f\u9032\u884c\u6027\u306e\u75be\u60a3\u3067\u3042\u308a\u3001\u4e00\u751f\u6daf\u306b\u308f\u305f\u308b\u611f\u899a\u969c\u5bb3\u3092\u4f34\u3044\u307e\u3059\u3002\u65e9\u671f\u306e\u4eba\u5de5\u5185\u8033\u57cb\u3081\u8fbc\u307f\u306b\u3088\u3063\u3066\u8074\u899a\u306e\u4e00\u90e8\u304c\u56de\u5fa9\u3059\u308b\u53ef\u80fd\u6027\u306f\u3042\u308a\u307e\u3059\u304c\u3001\u7db2\u819c\u8272\u7d20\u5909\u6027\u306e\u9032\u884c\u306b\u3088\u308a\u4e2d\u5e74\u671f\u306b\u306f\u9ad8\u5ea6\u306e\u8996\u899a\u969c\u5bb3\u304c\u907f\u3051\u3089\u308c\u306a\u3044\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002\u73fe\u5728\u3001\u907a\u4f1d\u5b50\u6cbb\u7642\u306e\u958b\u767a\u304c\u9032\u3081\u3089\u308c\u3066\u3044\u307e\u3059\u304c\u30012023\u5e74\u6642\u70b9\u3067\u306f\u3001USH1F\u306b\u5bfe\u3059\u308b\u8996\u529b\u56de\u5fa9\u306e\u305f\u3081\u306eFDA\u627f\u8a8d\u6cbb\u7642\u306f\u5b58\u5728\u3057\u3066\u3044\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<div class=\"wp-block-group references\"><div class=\"wp-block-group__inner-container is-layout-flow wp-block-group-is-layout-flow\">\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\/10.1093\/hmg\/10.16.1709\">Alagramam, K. N. (2001). Mutations in the novel protocadherin PCDH15 cause Usher syndrome type 1F. <em>Human Molecular Genetics<\/em>, <em>10<\/em>(16), 1709\u20131718. https:\/\/doi.org\/10.1093\/hmg\/10.16.1709<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1038\/s41467-023-38038-y\">Ivanchenko, M.V., Hathaway, D.M., Klein, A.J. <em>et al.<\/em> Mini-PCDH15 gene therapy rescues hearing in a mouse model of Usher syndrome type 1F. <em>Nat Commun<\/em> <strong>14<\/strong>, 2400 (2023). https:\/\/doi.org\/10.1038\/s41467-023-38038-y<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1186\/s12886-022-02659-6\">Chen, N., Lee, H., Kim, A.H. <em>et al.<\/em> Case report: novel <em>PCDH15<\/em> variant causes usher syndrome type 1F with congenital hearing loss and syndromic retinitis pigmentosa. <em>BMC Ophthalmol<\/em> <strong>22<\/strong>, 441 (2022). https:\/\/doi.org\/10.1186\/s12886-022-02659-6<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1586\/17469899.2015.1033403\">Toms, M., Bitner-Glindzicz, M., Webster, A., &amp; Moosajee, M. (2015). Usher syndrome: A review of the clinical phenotype, genes and therapeutic strategies. <em>Expert Review of Ophthalmology<\/em>, <em>10<\/em>(3), 241\u2013256. https:\/\/doi.org\/10.1586\/17469899.2015.1033403<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.3390\/audiolres12010005\">Castiglione, A., &amp; M\u00f6ller, C. (2022). Usher syndrome. <em>Audiology Research<\/em>, <em>12<\/em>(1), 42\u201365. https:\/\/doi.org\/10.3390\/audiolres12010005<\/a><\/li>\n<\/ul>\n<\/div><\/div>\n","protected":false},"featured_media":0,"menu_order":28,"template":"page_gd.php","class_list":["post-33585","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\/33585","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":7,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/33585\/revisions"}],"predecessor-version":[{"id":127757,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/33585\/revisions\/127757"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=33585"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}