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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<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>SPATA7<\/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<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<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<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<h2 class=\"wp-block-heading\">\u5c02\u9580\u7684\u306a\u89e3\u8aac<\/h2>\n\n\n<p>\u30ec\u30fc\u30d0\u30fc\u5148\u5929\u9ed2\u5185\u969c\uff08LCA\uff09\u306f\u3001<strong>\u751f\u5f8c1\u5e74\u4ee5\u5185\u306b\u767a\u75c7\u3059\u308b\u91cd\u5ea6\u306e\u7db2\u819c\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc<\/strong>\u3068\u5b9a\u7fa9\u3055\u308c\u3001\u65e9\u671f\u767a\u75c7\u91cd\u75c7\u7db2\u819c\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\uff08EOSRD\uff09\u3068\u9023\u7d9a\u3057\u305f\u75be\u60a3\u6982\u5ff5\u3092\u306a\u3059\u3002\u539f\u56e0\u907a\u4f1d\u5b50\u306f\u75c5\u614b\u6a5f\u5e8f\u304b\u3089\u3001<strong>\u2460\u8996\u899a\u30b5\u30a4\u30af\u30eb\uff08RPE65\u3001LRAT\u3001RDH12\uff09\u3001\u2461\u5149\u4f1d\u9054\uff08GUCY2D\u3001AIPL1\uff09\u3001\u2462\u7e4a\u6bdb\u5185\u8f38\u9001\uff08CEP290\u3001SPATA7\u3001RPGRIP1\u3001TULP1\u3001LCA5\u3001IQCB1\uff09\u3001\u2463\u8996\u7d30\u80de\u306e\u5f62\u614b\u5f62\u6210\uff08CRB1\u3001CRX\uff09\u3001\u2464\u4ee3\u8b1d\uff08NMNAT1\u3001IMPDH1\uff09<\/strong>\u306b\u5927\u5225\u3067\u304d\u308b\u3002\u3053\u306e\u5206\u985e\u306f\u3001\u6cbb\u7642\u53ef\u80fd\u6027\u3092\u8003\u3048\u308b\u3046\u3048\u3067\u5b9f\u969b\u7684\u306a\u610f\u5473\u3092\u3082\u3064\u3002<\/p>\n\n\n<p><strong>SPATA7<\/strong>\uff08LCA3\u300114q31.3\uff09\u306f\u8996\u7d30\u80de\u306e\u9023\u7d50\u7e4a\u6bdb\u304a\u3088\u3073\u57fa\u5e95\u4f53\u306b\u5c40\u5728\u3057\u3001<strong>RPGRIP1\u3092\u5916\u7bc0\u57fa\u90e8\u306b\u4fc2\u7559\u3059\u308b\u8db3\u5834\u305f\u3093\u3071\u304f\u8cea<\/strong>\u3068\u3057\u3066\u6a5f\u80fd\u3059\u308b\u3002Spata7\u6b20\u640d\u30de\u30a6\u30b9\u3067\u306fRPGRIP1\u3068RPGR\u306e\u5c40\u5728\u7570\u5e38\u304c\u751f\u3058\u3001<strong>\u7e4a\u6bdb\u5185\u8f38\u9001\u306e\u7834\u7dbb\u3092\u4ecb\u3057\u3066\u8996\u7d30\u80de\u5909\u6027\u306b\u81f3\u308b<\/strong>\u3002\u8868\u73fe\u578b\u306fLCA\u3068\u82e5\u5e74\u767a\u75c7\u306e\u7db2\u819c\u8272\u7d20\u5909\u6027\u75c7\uff08RP94\uff09\u306b\u5206\u304b\u308c\u3001\u6b8b\u5b58\u6a5f\u80fd\u3068\u76f8\u95a2\u3059\u308b\u3002\u672c\u907a\u4f1d\u5b50\u306f\u7cbe\u5de3\u306b\u3082\u767a\u73fe\u3059\u308b\u304c\u3001\u30d2\u30c8\u3067\u306e\u751f\u6b96\u6a5f\u80fd\u3078\u306e\u5f71\u97ff\u306f\u660e\u3089\u304b\u3067\u306a\u3044\u3002<\/p>\n\n\n<p>\u9451\u5225\u3068\u3057\u3066\u306f\u3001\u5148\u5929\u505c\u6b62\u6027\u591c\u76f2\u3001\u7121\u8679\u5f69\u75c7\u3001\u76ae\u8cea\u6027\u8996\u899a\u969c\u5bb3\u3001<strong>\u5168\u8eab\u75c7\u72b6\u3092\u4f34\u3046\u7e4a\u6bdb\u75c5\uff08\u30b8\u30e5\u30d9\u30fc\u30eb\u75c7\u5019\u7fa4\uff1dCEP290\u3001\u30b7\u30cb\u30a2\u30fb\u30ed\u30fc\u30b1\u30f3\u75c7\u5019\u7fa4\uff1dIQCB1\/NPHP1\u3001\u30d0\u30eb\u30c7\u30fc\u30fb\u30d3\u30fc\u30c9\u30eb\u75c7\u5019\u7fa4\uff09<\/strong>\u304c\u91cd\u8981\u3067\u3042\u308b\u3002<strong>CEP290\u3084IQCB1\u306b\u3088\u308b\u75c7\u4f8b\u3067\u306f\u3001\u5f8c\u5e74\u306b\u814e\u969c\u5bb3\u304c\u9855\u5728\u5316\u3057\u3046\u308b\u305f\u3081\u3001\u8a3a\u65ad\u6642\u304b\u3089\u814e\u6a5f\u80fd\u306e\u30d5\u30a9\u30ed\u30fc\u3092\u7d44\u307f\u8fbc\u3080\u3002<\/strong><\/p>\n\n\n<h2 class=\"wp-block-heading\">\u3088\u304f\u3042\u308b\u8cea\u554f<\/h2>\n\n\n<h3 class=\"wp-block-heading\">Q. \u8996\u529b\u306f\u3069\u306e\u304f\u3089\u3044\u6b8b\u308a\u307e\u3059\u304b\u3002<\/h3>\n\n\n<p>A. \u539f\u56e0\u3068\u306a\u308b\u907a\u4f1d\u5b50\u3068\u5909\u5316\u306e\u7a2e\u985e\u306b\u3088\u3063\u3066\u5927\u304d\u304f\u7570\u306a\u308a\u307e\u3059\u3002\u5149\u3092\u611f\u3058\u308b\u7a0b\u5ea6\u306b\u3068\u3069\u307e\u308b\u65b9\u304b\u3089\u3001\u62e1\u5927\u93e1\u3092\u4f7f\u3063\u3066\u6587\u5b57\u3092\u8aad\u3081\u308b\u65b9\u307e\u3067\u3055\u307e\u3056\u307e\u3067\u3059\u3002\u898b\u901a\u3057\u306b\u3064\u3044\u3066\u306f\u3001\u539f\u56e0\u907a\u4f1d\u5b50\u304c\u5206\u304b\u3063\u305f\u3046\u3048\u3067\u773c\u79d1\u306e\u5c02\u9580\u533b\u306b\u3054\u76f8\u8ac7\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n<h3 class=\"wp-block-heading\">Q. \u76ee\u3092\u3053\u3059\u308b\u3057\u3050\u3055\u304c\u6c17\u306b\u306a\u308a\u307e\u3059\u3002<\/h3>\n\n\n<p>A. <strong>\u773c\u6307\u5fb4\u5019<\/strong>\u3068\u547c\u3070\u308c\u3001\u3053\u306e\u75c5\u6c17\u306b\u7279\u5fb4\u7684\u306a\u884c\u52d5\u3067\u3059\u3002\u76ee\u3092\u62bc\u3059\u3053\u3068\u3067\u5149\u306e\u611f\u899a\u304c\u5f97\u3089\u308c\u308b\u305f\u3081\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002\u5f37\u304f\u3053\u3059\u308a\u7d9a\u3051\u308b\u3068\u773c\u7403\u3084\u773c\u7aa9\u306b\u5f71\u97ff\u3059\u308b\u3053\u3068\u304c\u3042\u308b\u305f\u3081\u3001\u773c\u79d1\u3067\u76f8\u8ac7\u3057\u306a\u304c\u3089\u3001\u5225\u306e\u523a\u6fc0\u3067\u6c17\u3092\u305d\u3089\u3059\u5de5\u592b\u3092\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n<h3 class=\"wp-block-heading\">Q. \u77e5\u7684\u306a\u767a\u9054\u306b\u5f71\u97ff\u306f\u3042\u308a\u307e\u3059\u304b\u3002<\/h3>\n\n\n<p>A. \u591a\u304f\u306e\u5834\u5408\u3001\u77e5\u7684\u767a\u9054\u305d\u306e\u3082\u306e\u306b\u306f\u5f71\u97ff\u3057\u307e\u305b\u3093\u3002\u305f\u3060\u3057\u3001\u898b\u3048\u306b\u304f\u3055\u304c\u767a\u9054\u306e\u6a5f\u4f1a\u3092\u6e1b\u3089\u3059\u3053\u3068\u304c\u3042\u308b\u305f\u3081\u3001<strong>\u65e9\u671f\u304b\u3089\u306e\u8996\u899a\u652f\u63f4\u3068\u7642\u80b2\u304c\u5927\u5207\u3067\u3059<\/strong>\u3002<\/p>\n\n\n<h3 class=\"wp-block-heading\">Q. \u7db2\u819c\u8272\u7d20\u5909\u6027\u75c7\u3068\u3069\u3046\u9055\u3046\u306e\u3067\u3059\u304b\u3002<\/h3>\n\n\n<p>A. \u751f\u307e\u308c\u305f\u3068\u304d\u304b\u3089\u307b\u3068\u3093\u3069\u898b\u3048\u306a\u3044\u5834\u5408\u3092\u30ec\u30fc\u30d0\u30fc\u5148\u5929\u9ed2\u5185\u969c\u3001\u5b66\u7ae5\u671f\u4ee5\u964d\u306b\u3086\u3063\u304f\u308a\u9032\u3080\u5834\u5408\u3092\u7db2\u819c\u8272\u7d20\u5909\u6027\u75c7\u3068\u547c\u3073\u5206\u3051\u307e\u3059\u3002\u540c\u3058\u907a\u4f1d\u5b50\u3067\u4e21\u65b9\u304c\u8d77\u3053\u308a\u307e\u3059\u3002<\/p>\n\n\n<h3 class=\"wp-block-heading\">Q. \u6b21\u306e\u304a\u5b50\u3055\u307e\u3078\u306e\u5f71\u97ff\u306f\u3042\u308a\u307e\u3059\u304b\u3002<\/h3>\n\n\n<p>A. \u3054\u4e21\u89aa\u304c\u3069\u3061\u3089\u3082\u30ad\u30e3\u30ea\u30a2\u306e\u5834\u5408\u3001\u304a\u5b50\u3055\u307e\u3054\u3068\u306b4\u5206\u306e1\u306e\u78ba\u7387\u3067\u767a\u75c7\u3057\u307e\u3059\u3002\u6b63\u78ba\u306a\u898b\u901a\u3057\u306f\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3067\u3054\u78ba\u8a8d\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n<h2 class=\"wp-block-heading\">\u53c2\u8003\u6587\u732e<\/h2>\n\n\n<ul class=\"wp-block-list\">\n<li>Kumaran N, Moore AT, Weleber RG, Michaelides M. Leber congenital amaurosis\/early-onset severe retinal dystrophy: clinical features, molecular genetics and therapeutic interventions. <em>Br J Ophthalmol<\/em>. 2017;101(9):1147-1154.<\/li>\n\n\n\n<li>den Hollander AI, Roepman R, Koenekoop RK, Cremers FP. Leber congenital amaurosis: genes, proteins and disease mechanisms. <em>Prog Retin Eye Res<\/em>. 2008;27(4):391-419.<\/li>\n\n\n\n<li>Chacon-Camacho OF, Zenteno JC. Review and update on the molecular basis of Leber congenital amaurosis. <em>World J Clin Cases<\/em>. 2015;3(2):112-124.<\/li>\n\n\n\n<li>Wang H, den Hollander AI, Moayedi Y, et al. Mutations in SPATA7 cause Leber congenital amaurosis and juvenile retinitis pigmentosa. <em>Am J Hum Genet<\/em>. 2009;84(3):380-387.<\/li>\n\n\n<\/ul>\n","protected":false},"featured_media":0,"menu_order":0,"template":"page_gd.php","class_list":["post-136941","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\/136941","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\/136941\/revisions"}],"predecessor-version":[{"id":137259,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/136941\/revisions\/137259"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=136941"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}