{"id":136703,"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=136703"},"modified":"2026-09-08T12:23:14","modified_gmt":"2026-09-08T03:23:14","slug":"autosomal-recessive-deafness-9-otof","status":"publish","type":"genetic-diseases","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/autosomal-recessive-deafness-9-otof\/","title":{"rendered":"\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u96e3\u80749\u578b"},"content":{"rendered":"\n<h2 class=\"wp-block-heading\">\u6982\u8981<\/h2>\n\n\n\n<p>\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u96e3\u80749\u578b\uff08DFNB9\uff09\u306f\u3001\u751f\u307e\u308c\u3064\u304d\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>OTOF<\/strong> 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class=\"wp-block-heading\">\u691c\u67fb\u30fb\u8a3a\u65ad<\/h2>\n\n\n\n<p><strong>OAE\u304c\u6b63\u5e38\u3067ABR\u304c\u7121\u53cd\u5fdc<\/strong>\u3068\u3044\u3046\u7d44\u307f\u5408\u308f\u305b\u304b\u3089\u8074\u795e\u7d4c\u75c5\u5909\u3092\u7591\u3044\u3001<strong>OTOF<\/strong> \u907a\u4f1d\u5b50\u306e\u89e3\u6790\u306b\u3088\u3063\u3066\u78ba\u5b9a\u3057\u307e\u3059\u3002<strong>\u65b0\u751f\u5150\u8074\u899a\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u3067OAE\u306e\u307f\u3092\u7528\u3044\u3066\u3044\u308b\u65bd\u8a2d\u3067\u306f\u898b\u9003\u3055\u308c\u308b\u53ef\u80fd\u6027\u304c\u3042\u308b<\/strong>\u305f\u3081\u3001\u3053\u3068\u3070\u306e\u9045\u308c\u304c\u3042\u308b\u5834\u5408\u306b\u306f\u6539\u3081\u3066\u8a55\u4fa1\u304c\u5fc5\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u6cbb\u7642<\/h2>\n\n\n\n<ul 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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>OTOF<\/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 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<strong>OTOF<\/strong>\uff082p23.3\uff09\u306e\u4e21\u30a2\u30ec\u30eb\u5909\u7570\u306b\u3088\u308b\u3002\u30aa\u30c8\u30d5\u30a7\u30ea\u30f3\u306f\u5185\u6709\u6bdb\u7d30\u80de\u306e\u30ea\u30dc\u30f3\u30b7\u30ca\u30d7\u30b9\u306b\u5c40\u5728\u3059\u308bCa2+\u30bb\u30f3\u30b5\u30fc\u86cb\u767d\u3067\u3001\u30b7\u30ca\u30d7\u30b9\u5c0f\u80de\u306e\u958b\u53e3\u653e\u51fa\u3092\u62c5\u3046\u3002<\/p>\n\n\n\n<p><strong>\u5916\u6709\u6bdb\u7d30\u80de\u306e\u6a5f\u80fd\u306f\u4fdd\u305f\u308c\u308b\u305f\u3081OAE\u306f\u6b63\u5e38\u3001\u3057\u304b\u3057\u5185\u6709\u6bdb\u7d30\u80de\u304b\u3089\u8778\u725b\u795e\u7d4c\u3078\u306e\u4f1d\u9054\u304c\u969c\u5bb3\u3055\u308c\u308b\u305f\u3081ABR\u306f\u7121\u53cd\u5fdc<\/strong>\u3068\u306a\u308b\u3002\u3053\u306e\u89e3\u96e2\u304c auditory neuropathy spectrum disorder\uff08ANSD\uff09\u306e\u5178\u578b\u50cf\u3067\u3042\u308a\u3001OTOF\u306fANSD\u306e\u6700\u591a\u306e\u539f\u56e0\u907a\u4f1d\u5b50\u3067\u3042\u308b\u3002<\/p>\n\n\n\n<p>\u81e8\u5e8a\u7684\u306b\u91cd\u8981\u306a\u306e\u306f\u3001<strong>OAE\u30d9\u30fc\u30b9\u306e\u65b0\u751f\u5150\u8074\u899a\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u3067\u306f\u691c\u51fa\u3055\u308c\u306a\u3044<\/strong>\u3053\u3068\u3067\u3042\u308b\u3002\u81ea\u52d5ABR\u3092\u4f75\u7528\u3059\u308b\u65bd\u8a2d\u3067\u306f\u691c\u51fa\u3055\u308c\u308b\u304c\u3001OAE\u306e\u307f\u306e\u65bd\u8a2d\u3067\u306f\u898b\u9003\u3055\u308c\u3046\u308b\u3002\u3053\u3068\u3070\u306e\u9045\u308c\u3092\u4e3b\u8a34\u3068\u3059\u308b\u4f8b\u3067\u306f\u672c\u75c7\u3092\u9451\u5225\u306b\u52a0\u3048\u308b\u3002<\/p>\n\n\n\n<p>\u4eba\u5de5\u5185\u8033\u306f\u8778\u725b\u795e\u7d4c\u3092\u76f4\u63a5\u523a\u6fc0\u3059\u308b\u305f\u3081<strong>OTOF\u95a2\u9023\u96e3\u8074\u3067\u6975\u3081\u3066\u826f\u597d\u306a\u6210\u7e3e<\/strong>\u3092\u793a\u3059\u3002\u3055\u3089\u306b2024\u5e74\u524d\u5f8c\u304b\u3089\u3001AAV\u30d9\u30af\u30bf\u30fc\u306b\u3088\u308b<strong>OTOF\u907a\u4f1d\u5b50\u6cbb\u7642\u306e\u7b2c1\/2\u76f8\u8a66\u9a13\u3067\u8074\u529b\u306e\u5b9f\u8cea\u7684\u306a\u56de\u5fa9\u304c\u5831\u544a<\/strong>\u3055\u308c\u3001\u907a\u4f1d\u6027\u96e3\u8074\u306b\u5bfe\u3059\u308b\u521d\u306e\u6cbb\u7642\u6cd5\u3068\u3057\u3066\u6ce8\u76ee\u3055\u308c\u3066\u3044\u308b\u3002\u4e00\u90e8\u306e\u5909\u7570\u3067\u306f\u6e29\u5ea6\u611f\u53d7\u6027\u96e3\u8074\uff08\u767a\u71b1\u6642\u306b\u306e\u307f\u8074\u529b\u304c\u4f4e\u4e0b\uff09\u3092\u5448\u3059\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. \u65b0\u751f\u5150\u306e\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u3067\u306f\u7570\u5e38\u306a\u3057\u3067\u3057\u305f\u3002<\/h3>\n\n\n\n<p>A. \u3053\u306e\u75c5\u6c17\u3067\u306f\u8033\u97f3\u97ff\u653e\u5c04\uff08OAE\uff09\u304c\u6b63\u5e38\u306b\u51fa\u308b\u305f\u3081\u3001OAE\u3060\u3051\u306e\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u3067\u306f\u898b\u9003\u3055\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u3053\u3068\u3070\u306e\u9045\u308c\u304c\u3042\u308c\u3070\u3001\u6539\u3081\u3066\u8a73\u3057\u3044\u691c\u67fb\u3092\u304a\u53d7\u3051\u304f\u3060\u3055\u3044\u3002<\/p>\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\u75c5\u6c17\u3067\u306f<strong>\u975e\u5e38\u306b\u826f\u597d\u306a\u52b9\u679c<\/strong>\u304c\u671f\u5f85\u3067\u304d\u307e\u3059\u3002\u795e\u7d4c\u305d\u306e\u3082\u306e\u306f\u4fdd\u305f\u308c\u3066\u3044\u308b\u305f\u3081\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">Q. \u88dc\u8074\u5668\u306f\u52b9\u304d\u307e\u3059\u304b\uff1f<\/h3>\n\n\n\n<p>A. \u52b9\u679c\u304c\u4e4f\u3057\u3044\u3053\u3068\u304c\u591a\u3044\u3068\u3055\u308c\u307e\u3059\u3002\u4eba\u5de5\u5185\u8033\u304c\u4e3b\u306a\u9078\u629e\u80a2\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">Q. \u71b1\u304c\u51fa\u308b\u3068\u805e\u3053\u3048\u306b\u304f\u304f\u306a\u308a\u307e\u3059\u3002<\/h3>\n\n\n\n<p>A. \u3053\u306e\u75c5\u6c17\u306e\u4e00\u90e8\u306e\u578b\u3067\u306f\u3001\u767a\u71b1\u6642\u306b\u3060\u3051\u96e3\u8074\u304c\u60aa\u5316\u3059\u308b\u3053\u3068\u304c\u77e5\u3089\u308c\u3066\u3044\u307e\u3059\u3002\u767a\u71b1\u6642\u306e\u5bfe\u5fdc\u3092\u62c5\u5f53\u306e\u5148\u751f\u3068\u6c7a\u3081\u3066\u304a\u304f\u3068\u5b89\u5fc3\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">Q. \u907a\u4f1d\u5b50\u6cbb\u7642\u304c\u3042\u308b\u3068\u805e\u304d\u307e\u3057\u305f\u3002<\/h3>\n\n\n\n<p>A. OTOF\u304c\u539f\u56e0\u306e\u96e3\u8074\u306b\u5bfe\u3059\u308b\u907a\u4f1d\u5b50\u6cbb\u7642\u306e\u81e8\u5e8a\u8a66\u9a13\u3067\u3001\u8074\u529b\u306e\u56de\u5fa9\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u307e\u3060\u7814\u7a76\u6bb5\u968e\u3067\u3059\u304c\u3001\u6ce8\u76ee\u3055\u308c\u3066\u3044\u307e\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>Yasunaga S, Grati M, Cohen-Salmon M, et al. A mutation in OTOF, encoding otoferlin, a FER-1-like protein, causes DFNB9, a nonsyndromic form of deafness. <em>Nat Genet<\/em>. 1999;21(4):363-369.<\/li>\n\n\n\n<li>Roux I, Safieddine S, Nouvian R, et al. Otoferlin, defective in a human deafness form, is essential for exocytosis at the auditory ribbon synapse. <em>Cell<\/em>. 2006;127(2):277-289.<\/li>\n\n\n\n<li>Rodr\u00edguez-Ballesteros M, Reynoso R, Olarte M, et al. A multicenter study on the prevalence and spectrum of mutations in the otoferlin gene (OTOF) in subjects with nonsyndromic hearing impairment and auditory neuropathy. <em>Hum Mutat<\/em>. 2008;29(6):823-831.<\/li>\n\n\n\n<li>Lv J, Wang H, Cheng X, et al. AAV1-hOTOF gene therapy for autosomal recessive deafness 9: a single-arm trial. <em>Lancet<\/em>. 2024;403(10441):2317-2325.<\/li>\n\n\n\n<li>OMIM #601071 Deafness, autosomal recessive 9<\/li>\n\n\n<\/ul>\n","protected":false},"featured_media":0,"menu_order":0,"template":"page_gd.php","class_list":["post-136703","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\/136703","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\/136703\/revisions"}],"predecessor-version":[{"id":137073,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/136703\/revisions\/137073"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=136703"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}