{"id":122103,"date":"2026-01-08T17:26:59","date_gmt":"2026-01-08T08:26:59","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?post_type=genetic-diseases&p=122103"},"modified":"2026-03-03T12:53:15","modified_gmt":"2026-03-03T03:53:15","slug":"usher-syndrome-type-1c-ush1c","status":"publish","type":"genetic-diseases","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/usher-syndrome-type-1c-ush1c\/","title":{"rendered":"\u30a2\u30c3\u30b7\u30e3\u30fc\u75c7\u5019\u7fa4\uff081C\u578b\uff09USH1C"},"content":{"rendered":"\n

\u6982\u8981<\/strong><\/h2>\n\n\n\n

\u30a2\u30c3\u30b7\u30e3\u30fc\u75c7\u5019\u7fa4\u306f\u3001\u5148\u5929\u6027\u307e\u305f\u306f\u65e9\u671f\u767a\u75c7\u306e\u611f\u97f3\u6027\u96e3\u8074\u3068\u9032\u884c\u6027\u7db2\u819c\u5909\u6027\uff08\u7db2\u819c\u8272\u7d20\u5909\u6027\u75c7\uff09\u3092\u4e3b\u5fb4\u3068\u3059\u308b\u907a\u4f1d\u6027\u75be\u60a3\u7fa4\u3067\u3059\u3002\u305d\u306e\u4e2d\u30671C\u578b\u306fUSH1C\u907a\u4f1d\u5b50\u306e\u7570\u5e38\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u308b\u7a00\u306a\u30b5\u30d6\u30bf\u30a4\u30d7\u3067\u3001\u7279\u306b\u91cd\u5ea6\u306e\u8074\u899a\u969c\u5bb3\u3001\u5e73\u8861\u6a5f\u80fd\u969c\u5bb3\u3001\u304a\u3088\u3073\u601d\u6625\u671f\u4ee5\u964d\u306b\u9032\u884c\u3059\u308b\u8996\u899a\u969c\u5bb3\u3092\u7279\u5fb4\u3068\u3057\u307e\u3059\u3002<\/p>\n\n\n\n

USH1C\u907a\u4f1d\u5b50\u306f\u3001\u5185\u8033\u306e\u6709\u6bdb\u7d30\u80de\u304a\u3088\u3073\u7db2\u819c\u306e\u5149\u53d7\u5bb9\u7d30\u80de\u306b\u304a\u3044\u3066\u3001\u7d30\u80de\u9aa8\u683c\u3084\u30b7\u30ca\u30d7\u30b9\u69cb\u9020\u306e\u5b89\u5b9a\u5316\u306b\u95a2\u4e0e\u3059\u308b\u30cf\u30fc\u30e2\u30cb\u30f3\uff08harmonin\uff09\u3068\u3044\u3046\u30bf\u30f3\u30d1\u30af\u8cea\u3092\u30b3\u30fc\u30c9\u3057\u307e\u3059\u3002\u3053\u306e\u30bf\u30f3\u30d1\u30af\u8cea\u306f\u611f\u899a\u7d30\u80de\u306e\u6a5f\u68b0\u7684\u523a\u6fc0\u306e\u4f1d\u9054\u3084\u7d30\u80de\u69cb\u9020\u306e\u7dad\u6301\u306b\u4e0d\u53ef\u6b20\u3067\u3042\u308a\u3001\u305d\u306e\u6b20\u640d\u306f\u8074\u899a\u30fb\u8996\u899a\u306e\u4e21\u7cfb\u7d71\u306b\u969c\u5bb3\u3092\u3082\u305f\u3089\u3057\u307e\u3059\u3002(PMC)<\/p>\n\n\n\n

\u75ab\u5b66<\/strong><\/h2>\n\n\n\n

\u30a2\u30c3\u30b7\u30e3\u30fc\u75c7\u5019\u7fa4\u5168\u4f53\u306e\u6709\u75c5\u7387\u306f\u7d042\u301c4\u4e07\u4eba\u306b1\u4eba\u3068\u63a8\u5b9a\u3055\u308c\u3001\u305d\u306e\u3046\u30611\u578b\u306f\u7d0430\u301c40\uff05\u3092\u5360\u3081\u307e\u3059\u30021C\u578b\u306f1\u578b\u306e\u4e2d\u3067\u3082\u6bd4\u8f03\u7684\u7a00\u3067\u3001\u7279\u5b9a\u5730\u57df\u3084\u96c6\u56e3\u306b\u96c6\u7a4d\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002(Orphanet)<\/p>\n\n\n\n

\u539f\u56e0<\/strong><\/h2>\n\n\n\n

\u672c\u75be\u60a3\u306fUSH1C\u907a\u4f1d\u5b50\u306e\u4e21\u30a2\u30ec\u30eb\u75c5\u7684\u5909\u7570\u306b\u3088\u308a\u767a\u75c7\u3057\u307e\u3059\u3002USH1C\u907a\u4f1d\u5b50\u306f\u30d2\u30c811\u756a\u67d3\u8272\u4f53\uff0811p15\uff09\u306b\u4f4d\u7f6e\u3057\u3001\u611f\u899a\u7d30\u80de\u5185\u306e\u8db3\u5834\u30bf\u30f3\u30d1\u30af\u8cea\u3067\u3042\u308b\u30cf\u30fc\u30e2\u30cb\u30f3\u3092\u30b3\u30fc\u30c9\u3057\u307e\u3059\u3002\u3053\u306e\u30bf\u30f3\u30d1\u30af\u8cea\u306f\u6709\u6bdb\u7d30\u80de\u306e\u30b9\u30c6\u30ec\u30aa\u30b7\u30ea\u30a2\u69cb\u9020\u3068\u30b7\u30ca\u30d7\u30b9\u306e\u5b89\u5b9a\u6027\u306b\u5fc5\u9808\u3067\u3042\u308a\u3001\u305d\u306e\u6a5f\u80fd\u55aa\u5931\u306b\u3088\u308a\u6a5f\u68b0\u523a\u6fc0\u306e\u96fb\u6c17\u4fe1\u53f7\u5909\u63db\u304c\u969c\u5bb3\u3055\u308c\u307e\u3059\u3002(\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af)<\/p>\n\n\n\n

\u907a\u4f1d\u5f62\u5f0f\u306f\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d\u3067\u3059\u3002<\/p>\n\n\n\n

\u75c7\u72b6<\/strong><\/h2>\n\n\n\n

\u8074\u899a\u30fb\u5e73\u8861<\/strong><\/h3>\n\n\n\n
    \n
  • \u5148\u5929\u6027\u91cd\u5ea6\u611f\u97f3\u6027\u96e3\u8074<\/li>\n\n\n\n
  • \u524d\u5ead\u6a5f\u80fd\u969c\u5bb3\uff08\u6b69\u884c\u958b\u59cb\u306e\u9045\u308c\uff09<\/li>\n<\/ul>\n\n\n\n

    \u8996\u899a<\/strong><\/h3>\n\n\n\n
      \n
    • \u591c\u76f2<\/li>\n\n\n\n
    • \u8996\u91ce\u72ed\u7a84<\/li>\n\n\n\n
    • \u7db2\u819c\u8272\u7d20\u5909\u6027<\/li>\n<\/ul>\n\n\n\n

      \u305d\u306e\u4ed6<\/strong><\/h3>\n\n\n\n
        \n
      • \u30d0\u30e9\u30f3\u30b9\u969c\u5bb3<\/li>\n\n\n\n
      • \u8ee2\u5012\u3057\u3084\u3059\u3044<\/li>\n<\/ul>\n\n\n\n

        \u8a3a\u65ad<\/strong><\/h2>\n\n\n\n
          \n
        1. \u8074\u529b\u691c\u67fb\u3067\u306e\u91cd\u5ea6\u611f\u97f3\u6027\u96e3\u8074<\/li>\n\n\n\n
        2. \u773c\u5e95\u691c\u67fb\u3067\u306e\u7db2\u819c\u8272\u7d20\u5909\u6027<\/li>\n\n\n\n
        3. \u524d\u5ead\u6a5f\u80fd\u691c\u67fb\u7570\u5e38<\/li>\n\n\n\n
        4. \u907a\u4f1d\u5b50\u8a3a\u65ad\uff08USH1C\u89e3\u6790\uff09(PMC)<\/li>\n<\/ol>\n\n\n\n

          \u6cbb\u7642<\/strong><\/h2>\n\n\n\n
            \n
          • \u88dc\u8074\u5668\u30fb\u4eba\u5de5\u5185\u8033<\/li>\n\n\n\n
          • \u8996\u899a\u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3<\/li>\n\n\n\n
          • \u4f4e\u8996\u529b\u652f\u63f4<\/li>\n\n\n\n
          • \u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0<\/li>\n<\/ul>\n\n\n\n

            \u907a\u4f1d\u5b50\u6cbb\u7642\u7814\u7a76\u304c\u9032\u884c\u4e2d\u3067\u3059\u3002(Nature)<\/p>\n\n\n\n

            \u53c2\u8003\u6587\u732e<\/strong><\/h2>\n\n\n\n

            \u30a2\u30c3\u30b7\u30e3\u30fc\u75c7\u5019\u7fa41C\u578b \u2014 \u907a\u4f1d\u5b50\u75be\u60a3\u89e3\u8aac\u30da\u30fc\u30b8\uff08\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af\uff09\u3088\u308a\u3002(\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af)
            Verpy E et al. Mutations in USH1C cause Usher syndrome type 1C. Nat Genet. 2000.(Nature Genetics)
            Usher Syndrome Type 1 \u2014 GeneReviews, PubMed Central.(PMC)
            Usher Syndrome \u2014 Orphanet Rare Disease Database.(Orphanet)<\/p>\n","protected":false},"featured_media":0,"menu_order":0,"template":"page_gd.php","class_list":["post-122103","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\/122103","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":3,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/122103\/revisions"}],"predecessor-version":[{"id":125253,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/122103\/revisions\/125253"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=122103"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}