{"id":101541,"date":"2025-06-17T12:37:41","date_gmt":"2025-06-17T03:37:41","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?p=101541"},"modified":"2026-07-29T06:22:16","modified_gmt":"2026-07-28T21:22:16","slug":"leber-congenital-amaurosis-type-cep290-lca10","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/leber-congenital-amaurosis-type-cep290-lca10\/","title":{"rendered":"CEP290\u95a2\u9023Leber\u5148\u5929\u9ed2\u5185\u969c\uff08LCA10\uff09\u3010CEP290\u3011"},"content":{"rendered":"\n<div style=\"border:solid #ffe6e6 0.8rem;background-color: #fff9f9;padding:3% 5%;margin:1rem 0 3rem;\">\n<div id=\"ez-toc-container\" class=\"ez-toc-v2_0_85 counter-hierarchy ez-toc-counter ez-toc-grey ez-toc-container-direction\">\n<div class=\"ez-toc-title-container\">\n<p class=\"ez-toc-title\" style=\"cursor:inherit\">\u76ee\u6b21<\/p>\n<span class=\"ez-toc-title-toggle\"><a href=\"#\" class=\"ez-toc-pull-right ez-toc-btn ez-toc-btn-xs ez-toc-btn-default ez-toc-toggle\" aria-label=\"Toggle Table of Content\"><span class=\"ez-toc-js-icon-con\"><span class=\"\"><span class=\"eztoc-hide\" style=\"display:none;\">Toggle<\/span><span class=\"ez-toc-icon-toggle-span\"><svg style=\"fill: #999;color:#999\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" class=\"list-377408\" width=\"20px\" height=\"20px\" viewBox=\"0 0 24 24\" fill=\"none\"><path d=\"M6 6H4v2h2V6zm14 0H8v2h12V6zM4 11h2v2H4v-2zm16 0H8v2h12v-2zM4 16h2v2H4v-2zm16 0H8v2h12v-2z\" fill=\"currentColor\"><\/path><\/svg><svg style=\"fill: #999;color:#999\" class=\"arrow-unsorted-368013\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" width=\"10px\" height=\"10px\" viewBox=\"0 0 24 24\" version=\"1.2\" baseProfile=\"tiny\"><path d=\"M18.2 9.3l-6.2-6.3-6.2 6.3c-.2.2-.3.4-.3.7s.1.5.3.7c.2.2.4.3.7.3h11c.3 0 .5-.1.7-.3.2-.2.3-.5.3-.7s-.1-.5-.3-.7zM5.8 14.7l6.2 6.3 6.2-6.3c.2-.2.3-.5.3-.7s-.1-.5-.3-.7c-.2-.2-.4-.3-.7-.3h-11c-.3 0-.5.1-.7.3-.2.2-.3.5-.3.7s.1.5.3.7z\"\/><\/svg><\/span><\/span><\/span><\/a><\/span><\/div>\n<nav><ul class='ez-toc-list ez-toc-list-level-1 ' ><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-1\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/leber-congenital-amaurosis-type-cep290-lca10\/#%E3%81%93%E3%81%AE%E8%A8%98%E4%BA%8B%E3%81%AE%E7%B5%90%E8%AB%96\" >\u3053\u306e\u8a18\u4e8b\u306e\u7d50\u8ad6<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-2\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/leber-congenital-amaurosis-type-cep290-lca10\/#%E3%81%93%E3%81%AE%E8%A8%98%E4%BA%8B%E3%81%A7%E3%82%8F%E3%81%8B%E3%82%8B%E3%81%93%E3%81%A8\" >\u3053\u306e\u8a18\u4e8b\u3067\u308f\u304b\u308b\u3053\u3068<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-3\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/leber-congenital-amaurosis-type-cep290-lca10\/#1_CEP290%E9%96%A2%E9%80%A3%E3%83%AC%E3%83%BC%E3%83%90%E3%83%BC%E5%85%88%E5%A4%A9%E9%BB%92%E5%86%85%E9%9A%9CLCA10%E3%81%A8%E3%81%AF\" >1. CEP290\u95a2\u9023\u30ec\u30fc\u30d0\u30fc\u5148\u5929\u9ed2\u5185\u969c(LCA10)\u3068\u306f<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-4\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/leber-congenital-amaurosis-type-cep290-lca10\/#2_%E4%B8%BB%E3%81%AA%E7%97%87%E7%8A%B6_%E9%87%8D%E5%BA%A6%E3%81%AE%E8%A6%96%E5%8A%9B%E9%9A%9C%E5%AE%B3%E3%83%BB%E7%9C%BC%E6%8C%AF%E3%83%BB%E7%BE%9E%E6%98%8E\" >2. \u4e3b\u306a\u75c7\u72b6:\u91cd\u5ea6\u306e\u8996\u529b\u969c\u5bb3\u30fb\u773c\u632f\u30fb\u7f9e\u660e<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-5\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/leber-congenital-amaurosis-type-cep290-lca10\/#%E8%A7%92%E8%86%9C%E3%82%84%E8%A6%96%E7%B7%9A%E3%81%AE%E5%90%88%E4%BD%B5%E7%97%87\" >\u89d2\u819c\u3084\u8996\u7dda\u306e\u5408\u4f75\u75c7<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-6\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/leber-congenital-amaurosis-type-cep290-lca10\/#%E5%85%A8%E8%BA%AB%E7%97%87%E7%8A%B6%E3%82%92%E4%BC%B4%E3%81%86%E5%A0%B4%E5%90%88\" >\u5168\u8eab\u75c7\u72b6\u3092\u4f34\u3046\u5834\u5408<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-7\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/leber-congenital-amaurosis-type-cep290-lca10\/#3_CEP290%E3%81%AF%E3%81%AA%E3%81%9CLCA%E3%81%AE%E5%8E%9F%E5%9B%A0%E9%81%BA%E4%BC%9D%E5%AD%90%E3%81%AE%E4%B8%AD%E3%81%A7%E9%A0%BB%E5%BA%A6%E3%81%8C%E9%AB%98%E3%81%84%E3%81%AE%E3%81%8B\" >3. CEP290\u306f\u306a\u305cLCA\u306e\u539f\u56e0\u907a\u4f1d\u5b50\u306e\u4e2d\u3067\u983b\u5ea6\u304c\u9ad8\u3044\u306e\u304b<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-8\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/leber-congenital-amaurosis-type-cep290-lca10\/#4_%E5%8E%9F%E5%9B%A0_%E7%B7%9A%E6%AF%9B%E3%81%AE%E5%83%8D%E3%81%8D%E3%81%A8%E5%B8%B8%E6%9F%93%E8%89%B2%E4%BD%93%E6%BD%9C%E6%80%A7%E9%81%BA%E4%BC%9D\" >4. \u539f\u56e0:\u7dda\u6bdb\u306e\u50cd\u304d\u3068\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-9\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/leber-congenital-amaurosis-type-cep290-lca10\/#%E9%81%BA%E4%BC%9D%E3%81%AE%E4%BB%95%E7%B5%84%E3%81%BF_%E5%B8%B8%E6%9F%93%E8%89%B2%E4%BD%93%E6%BD%9C%E6%80%A7%E9%81%BA%E4%BC%9D\" >\u907a\u4f1d\u306e\u4ed5\u7d44\u307f:\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-10\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/leber-congenital-amaurosis-type-cep290-lca10\/#5_%E3%82%B8%E3%83%A5%E3%83%99%E3%83%BC%E3%83%AB%E7%97%87%E5%80%99%E7%BE%A4%E3%83%BB%E3%83%90%E3%83%AB%E3%83%87%E3%83%BC%E3%83%BB%E3%83%93%E3%83%BC%E3%83%89%E3%83%AB%E7%97%87%E5%80%99%E7%BE%A4%E3%81%A8%E3%81%AE%E9%96%A2%E4%BF%82\" >5. \u30b8\u30e5\u30d9\u30fc\u30eb\u75c7\u5019\u7fa4\u30fb\u30d0\u30eb\u30c7\u30fc\u30fb\u30d3\u30fc\u30c9\u30eb\u75c7\u5019\u7fa4\u3068\u306e\u95a2\u4fc2<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-11\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/leber-congenital-amaurosis-type-cep290-lca10\/#6_%E6%A4%9C%E6%9F%BB%E3%83%BB%E8%A8%BA%E6%96%AD%E3%81%AE%E6%B5%81%E3%82%8C\" >6. \u691c\u67fb\u30fb\u8a3a\u65ad\u306e\u6d41\u308c<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-12\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/leber-congenital-amaurosis-type-cep290-lca10\/#%E7%9C%BC%E7%A7%91%E7%9A%84%E6%A4%9C%E6%9F%BB\" >\u773c\u79d1\u7684\u691c\u67fb<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-13\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/leber-congenital-amaurosis-type-cep290-lca10\/#%E7%A2%BA%E5%AE%9A%E8%A8%BA%E6%96%AD%E3%81%A8%E3%81%97%E3%81%A6%E3%81%AE%E9%81%BA%E4%BC%9D%E5%AD%90%E6%A4%9C%E6%9F%BB\" >\u78ba\u5b9a\u8a3a\u65ad\u3068\u3057\u3066\u306e\u907a\u4f1d\u5b50\u691c\u67fb<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-14\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/leber-congenital-amaurosis-type-cep290-lca10\/#%E9%91%91%E5%88%A5%E3%81%8C%E5%BF%85%E8%A6%81%E3%81%AA%E7%96%BE%E6%82%A3\" >\u9451\u5225\u304c\u5fc5\u8981\u306a\u75be\u60a3<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-15\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/leber-congenital-amaurosis-type-cep290-lca10\/#7_%E6%B2%BB%E7%99%82%E3%81%A8%E7%AE%A1%E7%90%86_%E5%AF%BE%E7%97%87%E7%99%82%E6%B3%95%E3%81%A8%E9%81%BA%E4%BC%9D%E5%AD%90%E6%B2%BB%E7%99%82%E7%A0%94%E7%A9%B6%E3%81%AE%E6%9C%80%E5%89%8D%E7%B7%9A\" >7. \u6cbb\u7642\u3068\u7ba1\u7406:\u5bfe\u75c7\u7642\u6cd5\u3068\u907a\u4f1d\u5b50\u6cbb\u7642\u7814\u7a76\u306e\u6700\u524d\u7dda<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-16\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/leber-congenital-amaurosis-type-cep290-lca10\/#%E7%8F%BE%E5%9C%A8%E5%8F%97%E3%81%91%E3%82%89%E3%82%8C%E3%82%8B%E5%AF%BE%E7%97%87%E7%99%82%E6%B3%95\" >\u73fe\u5728\u53d7\u3051\u3089\u308c\u308b\u5bfe\u75c7\u7642\u6cd5<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-17\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/leber-congenital-amaurosis-type-cep290-lca10\/#%E3%82%A2%E3%83%B3%E3%83%81%E3%82%BB%E3%83%B3%E3%82%B9%E8%96%AC%E3%82%BB%E3%83%9D%E3%83%95%E3%82%A1%E3%83%BC%E3%82%BB%E3%83%B3%E3%81%AE%E7%8F%BE%E7%8A%B6\" >\u30a2\u30f3\u30c1\u30bb\u30f3\u30b9\u85ac(\u30bb\u30dd\u30d5\u30a1\u30fc\u30bb\u30f3)\u306e\u73fe\u72b6<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-18\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/leber-congenital-amaurosis-type-cep290-lca10\/#CRISPR%E9%81%BA%E4%BC%9D%E5%AD%90%E7%B7%A8%E9%9B%86EDIT-101%E3%81%AE%E7%8F%BE%E7%8A%B6\" >CRISPR\u907a\u4f1d\u5b50\u7de8\u96c6(EDIT-101)\u306e\u73fe\u72b6<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-19\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/leber-congenital-amaurosis-type-cep290-lca10\/#8_%E4%BA%88%E5%BE%8C%E3%81%A8%E5%AE%B6%E6%97%8F%E3%81%B8%E3%81%AE%E3%82%B5%E3%83%9D%E3%83%BC%E3%83%88\" >8. \u4e88\u5f8c\u3068\u5bb6\u65cf\u3078\u306e\u30b5\u30dd\u30fc\u30c8<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-20\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/leber-congenital-amaurosis-type-cep290-lca10\/#9_%E5%A6%8A%E5%A8%A0%E4%B8%AD%E3%81%AE%E6%A4%9C%E6%9F%BB%E3%83%BBNIPT%E3%81%A8%E3%81%AE%E9%96%A2%E4%BF%82\" >9. \u598a\u5a20\u4e2d\u306e\u691c\u67fb\u30fbNIPT\u3068\u306e\u95a2\u4fc2<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-21\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/leber-congenital-amaurosis-type-cep290-lca10\/#%E3%81%BE%E3%81%A8%E3%82%81_%E3%81%94%E5%AE%B6%E6%97%8F%E3%81%B8%E3%81%AE%E3%83%A1%E3%83%83%E3%82%BB%E3%83%BC%E3%82%B8\" >\u307e\u3068\u3081:\u3054\u5bb6\u65cf\u3078\u306e\u30e1\u30c3\u30bb\u30fc\u30b8<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-22\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/leber-congenital-amaurosis-type-cep290-lca10\/#%E3%82%88%E3%81%8F%E3%81%82%E3%82%8B%E8%B3%AA%E5%95%8F\" >\u3088\u304f\u3042\u308b\u8cea\u554f<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-23\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/leber-congenital-amaurosis-type-cep290-lca10\/#%E3%83%AC%E3%83%BC%E3%83%90%E3%83%BC%E5%85%88%E5%A4%A9%E9%BB%92%E5%86%85%E9%9A%9C10%E5%9E%8BLCA10%E3%81%A8%E3%81%AF%E3%80%81%E3%81%A9%E3%81%AE%E3%82%88%E3%81%86%E3%81%AA%E7%97%85%E6%B0%97%E3%81%A7%E3%81%99%E3%81%8B%E3%80%82\" >\u30ec\u30fc\u30d0\u30fc\u5148\u5929\u9ed2\u5185\u969c10\u578b(LCA10)\u3068\u306f\u3001\u3069\u306e\u3088\u3046\u306a\u75c5\u6c17\u3067\u3059\u304b\u3002<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-24\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/leber-congenital-amaurosis-type-cep290-lca10\/#CEP290%E9%81%BA%E4%BC%9D%E5%AD%90%E3%81%AE%E5%A4%89%E7%95%B0%E3%81%AF%E3%80%81%E4%BB%96%E3%81%AE%E5%8E%9F%E5%9B%A0%E9%81%BA%E4%BC%9D%E5%AD%90%E3%81%A8%E6%AF%94%E3%81%B9%E3%81%A6%E5%A4%9A%E3%81%84%E3%81%AE%E3%81%A7%E3%81%99%E3%81%8B%E3%80%82\" >CEP290\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306f\u3001\u4ed6\u306e\u539f\u56e0\u907a\u4f1d\u5b50\u3068\u6bd4\u3079\u3066\u591a\u3044\u306e\u3067\u3059\u304b\u3002<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-25\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/leber-congenital-amaurosis-type-cep290-lca10\/#%E3%82%B8%E3%83%A5%E3%83%99%E3%83%BC%E3%83%AB%E7%97%87%E5%80%99%E7%BE%A4%E3%82%84%E3%83%90%E3%83%AB%E3%83%87%E3%83%BC%E3%83%BB%E3%83%93%E3%83%BC%E3%83%89%E3%83%AB%E7%97%87%E5%80%99%E7%BE%A4%E3%81%A8%E3%81%AF%E3%81%A9%E3%81%86%E9%81%95%E3%81%84%E3%81%BE%E3%81%99%E3%81%8B%E3%80%82\" >\u30b8\u30e5\u30d9\u30fc\u30eb\u75c7\u5019\u7fa4\u3084\u30d0\u30eb\u30c7\u30fc\u30fb\u30d3\u30fc\u30c9\u30eb\u75c7\u5019\u7fa4\u3068\u306f\u3069\u3046\u9055\u3044\u307e\u3059\u304b\u3002<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-26\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/leber-congenital-amaurosis-type-cep290-lca10\/#%E9%81%BA%E4%BC%9D%E5%AD%90%E6%B2%BB%E7%99%82%E3%81%AF%E5%8F%97%E3%81%91%E3%82%89%E3%82%8C%E3%81%BE%E3%81%99%E3%81%8B%E3%80%82\" >\u907a\u4f1d\u5b50\u6cbb\u7642\u306f\u53d7\u3051\u3089\u308c\u307e\u3059\u304b\u3002<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-27\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/leber-congenital-amaurosis-type-cep290-lca10\/#RPE65%E3%81%AE%E9%81%BA%E4%BC%9D%E5%AD%90%E6%B2%BB%E7%99%82voretigene_neparvovec%E3%81%AF%E4%BD%BF%E3%81%88%E3%81%BE%E3%81%99%E3%81%8B%E3%80%82\" >RPE65\u306e\u907a\u4f1d\u5b50\u6cbb\u7642(voretigene neparvovec)\u306f\u4f7f\u3048\u307e\u3059\u304b\u3002<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-28\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/leber-congenital-amaurosis-type-cep290-lca10\/#%E6%AC%A1%E3%81%AE%E5%AD%90%E3%81%A9%E3%82%82%E3%81%AB%E3%82%82%E5%90%8C%E3%81%98%E7%97%85%E6%B0%97%E3%81%8C%E8%B5%B7%E3%81%93%E3%82%8B%E5%8F%AF%E8%83%BD%E6%80%A7%E3%81%AF%E3%81%82%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B%E3%80%82\" >\u6b21\u306e\u5b50\u3069\u3082\u306b\u3082\u540c\u3058\u75c5\u6c17\u304c\u8d77\u3053\u308b\u53ef\u80fd\u6027\u306f\u3042\u308a\u307e\u3059\u304b\u3002<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-29\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/leber-congenital-amaurosis-type-cep290-lca10\/#%E5%A6%8A%E5%A8%A0%E4%B8%AD%E3%81%AENIPT%E3%81%A7%E3%81%93%E3%81%AE%E7%97%85%E6%B0%97%E3%81%AF%E3%82%8F%E3%81%8B%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B%E3%80%82\" >\u598a\u5a20\u4e2d\u306eNIPT\u3067\u3053\u306e\u75c5\u6c17\u306f\u308f\u304b\u308a\u307e\u3059\u304b\u3002<\/a><\/li><\/ul><\/li><\/ul><\/nav><\/div>\n<h2 style=\"margin-top:1rem;\"><span class=\"ez-toc-section\" id=\"%E3%81%93%E3%81%AE%E8%A8%98%E4%BA%8B%E3%81%AE%E7%B5%90%E8%AB%96\"><\/span>\u3053\u306e\u8a18\u4e8b\u306e\u7d50\u8ad6<span class=\"ez-toc-section-end\"><\/span><\/h2>\n<p><strong>CEP290\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u308b\u30ec\u30fc\u30d0\u30fc\u5148\u5929\u9ed2\u5185\u969c10\u578b(LCA10)\u306f\u3001\u751f\u307e\u308c\u3064\u304d\u8996\u899a\u304c\u8457\u3057\u304f\u5f31\u3044\u7db2\u819c\u306e\u907a\u4f1d\u6027\u75be\u60a3\u3067\u3059\u3002<\/strong>LCA\u5168\u4f53\u306e\u539f\u56e0\u907a\u4f1d\u5b50\u306e\u306a\u304b\u3067\u3082CEP290\u306e\u5909\u7570\u306f\u7d0415\u301c20%\u3092\u5360\u3081\u3001\u3082\u3063\u3068\u3082\u983b\u5ea6\u306e\u9ad8\u3044\u30bf\u30a4\u30d7\u306e\u4e00\u3064\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u7db2\u819c\u306e\u4e2d\u5fc3\u90e8\u5206(\u4e2d\u5fc3\u7aa9)\u306e\u69cb\u9020\u304c\u6bd4\u8f03\u7684\u4fdd\u305f\u308c\u305f\u307e\u307e\u6a5f\u80fd\u3060\u3051\u304c\u5931\u308f\u308c\u308b\u7279\u5fb4\u304c\u3042\u308a\u3001\u3053\u306e\u70b9\u304c\u907a\u4f1d\u5b50\u6cbb\u7642\u7814\u7a76\u306e\u51fa\u767a\u70b9\u306b\u306a\u3063\u3066\u304d\u307e\u3057\u305f\u3002CRISPR\u907a\u4f1d\u5b50\u7de8\u96c6(EDIT-101)\u306f\u5b89\u5168\u6027\u3068\u4e00\u90e8\u306e\u6a5f\u80fd\u6539\u5584\u304c\u5831\u544a\u3055\u308c\u305f\u4e00\u65b9\u3001\u30a2\u30f3\u30c1\u30bb\u30f3\u30b9\u85ac(\u30bb\u30dd\u30d5\u30a1\u30fc\u30bb\u30f3)\u306f\u4e3b\u8981\u8a55\u4fa1\u9805\u76ee\u3092\u9054\u6210\u3067\u304d\u305a\u958b\u767a\u304c\u7e2e\u5c0f\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u672c\u8a18\u4e8b\u3067\u306f\u3001\u75c7\u72b6\u30fb\u539f\u56e0\u30fb\u691c\u67fb\u30fb\u6cbb\u7642\u7814\u7a76\u306e\u73fe\u72b6\u3068\u3001\u30b8\u30e5\u30d9\u30fc\u30eb\u75c7\u5019\u7fa4\u306a\u3069\u95a2\u9023\u75be\u60a3\u3068\u306e\u95a2\u4fc2\u3001\u598a\u5a20\u4e2d\u306e\u691c\u67fb(<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a>)\u3068\u306e\u95a2\u4fc2\u3092\u3001\u516c\u7684\u30fb\u5b66\u8853\u60c5\u5831\u6e90\u306b\u3082\u3068\u3065\u3044\u3066\u6574\u7406\u3057\u307e\u3059\u3002<\/p><\/div>\n\n\n\n<div style=\"border:solid #e6f0ff 0.6rem;background-color:#f7fbff;padding:3% 5%;margin:1rem 0 3rem;\">\n<h2 style=\"margin-top:1rem;\"><span class=\"ez-toc-section\" id=\"%E3%81%93%E3%81%AE%E8%A8%98%E4%BA%8B%E3%81%A7%E3%82%8F%E3%81%8B%E3%82%8B%E3%81%93%E3%81%A8\"><\/span>\u3053\u306e\u8a18\u4e8b\u3067\u308f\u304b\u308b\u3053\u3068<span class=\"ez-toc-section-end\"><\/span><\/h2>\n<ul>\n<li>CEP290\u907a\u4f1d\u5b50\u5909\u7570\u306b\u3088\u308b\u30ec\u30fc\u30d0\u30fc\u5148\u5929\u9ed2\u5185\u969c10\u578b(LCA10)\u306e\u75c7\u72b6\u3068\u539f\u56e0<\/li>\n<li>LCA\u306e\u539f\u56e0\u907a\u4f1d\u5b50\u306e\u306a\u304b\u3067CEP290\u304c\u3082\u3063\u3068\u3082\u983b\u5ea6\u306e\u9ad8\u3044\u90e8\u985e\u306b\u5165\u308b\u7406\u7531<\/li>\n<li>\u30b8\u30e5\u30d9\u30fc\u30eb\u75c7\u5019\u7fa4\u30fb\u30d0\u30eb\u30c7\u30fc\u30fb\u30d3\u30fc\u30c9\u30eb\u75c7\u5019\u7fa4\u306a\u3069\u3001CEP290\u304c\u95a2\u308f\u308b\u4ed6\u306e\u75be\u60a3\u3068\u306e\u95a2\u4fc2<\/li>\n<li>\u691c\u67fb\u30fb\u8a3a\u65ad\u306e\u6d41\u308c\u3068\u3001\u907a\u4f1d\u5b50\u6cbb\u7642\u7814\u7a76(EDIT-101\u30fb\u30bb\u30dd\u30d5\u30a1\u30fc\u30bb\u30f3)\u306e\u73fe\u5728\u5730<\/li>\n<li>\u598a\u5a20\u4e2d\u306e\u691c\u67fb(<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a>)\u3068\u306e\u95a2\u4fc2<\/li>\n<\/ul>\n<\/div>\n\n\n\n<p>\u304a\u5b50\u3055\u3093\u306e\u8996\u529b\u304c\u80b2\u305f\u305a\u3001\u773c\u79d1\u3067\u7cbe\u5bc6\u691c\u67fb\u3092\u53d7\u3051\u305f\u7d50\u679c\u3001CEP290\u907a\u4f1d\u5b50\u306e\u5909\u7570\u304c\u898b\u3064\u304b\u3063\u305f\u3054\u5bb6\u65cf\u306e\u65b9\u3078\u3002<\/p>\n\n\n\n<p>\u805e\u304d\u6163\u308c\u306a\u3044\u907a\u4f1d\u5b50\u540d\u3068\u75c5\u540d\u3092\u4e00\u5ea6\u306b\u544a\u3052\u3089\u308c\u3001\u982d\u304c\u771f\u3063\u767d\u306b\u306a\u3063\u305f\u65b9\u3082\u591a\u3044\u306e\u3067\u306f\u306a\u3044\u3067\u3057\u3087\u3046\u304b\u3002\u30ec\u30fc\u30d0\u30fc\u5148\u5929\u9ed2\u5185\u969c(LCA)\u306f\u5e0c\u5c11\u75be\u60a3\u306e\u4e00\u3064\u3067\u3001\u8eab\u8fd1\u306a\u60c5\u5831\u3092\u5f97\u306b\u304f\u3044\u75c5\u6c17\u3067\u3059\u3002<\/p>\n\n\n\n<p>LCA\u306f\u3001\u751f\u307e\u308c\u3064\u304d\u307e\u305f\u306f\u751f\u5f8c\u307e\u3082\u306a\u304f\u304b\u3089\u91cd\u3044\u8996\u899a\u969c\u5bb3\u304c\u73fe\u308c\u308b\u7db2\u819c\u306e\u75c5\u6c17\u306e\u7dcf\u79f0\u3067\u3059\u3002\u305d\u306e\u306a\u304b\u3067CEP290\u907a\u4f1d\u5b50\u306e\u5909\u7570\u304c\u539f\u56e0\u306e\u30bf\u30a4\u30d7\u3092\u3001LCA10\u3068\u547c\u3073\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u79c1\u81ea\u8eab\u3001\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u306e\u73fe\u5834\u3067\u3001\u8996\u7dda\u304c\u5408\u308f\u306a\u3044\u308f\u304c\u5b50\u306b\u6238\u60d1\u3046\u3054\u4e21\u89aa\u306b\u4f55\u5ea6\u3082\u304a\u4f1a\u3044\u3057\u3066\u304d\u307e\u3057\u305f\u3002\u539f\u56e0\u306e\u907a\u4f1d\u5b50\u304c\u7279\u5b9a\u3067\u304d\u308b\u3053\u3068\u306f\u3001\u6df7\u4e71\u306e\u4e2d\u3067\u72b6\u6cc1\u3092\u6574\u7406\u3059\u308b\u6700\u521d\u306e\u4e00\u6b69\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n<!--nipt_mono-->\r\n<div class=\"nipt-mono\">\r\n    <div class=\"nipt-mono-btn\">\r\n        <a href=\"\/nipt\/nipt-mono\/\">\r\n            <img decoding=\"async\" loading=\"lazy\" src=\"\/nipt\/wp-content\/uploads\/2026\/03\/NIPT-MONO.webp\" alt=\"NIPT-MONO\u3067\u8abf\u3079\u3089\u308c\u307e\u3059\">\r\n         <\/a>\r\n    <\/div>\r\n<\/div>\r\n\r\n<style>\r\n.nipt-mono {\r\n    text-align: center; \/* \u89aa\u8981\u7d20\u3067\u6a2a\u4e2d\u592e *\/\r\n}\r\n.nipt-mono a img {\r\n    display: inline-block; \/* \u753b\u50cf\u3092\u30a4\u30f3\u30e9\u30a4\u30f3\u30d6\u30ed\u30c3\u30af\u5316\u3057\u3066 text-align \u306b\u53cd\u6620 *\/\r\n    width: 333px;\r\n}\r\n<\/style>\r\n<!--\/nipt_mono-->\r\n\r\n\n\n\n<div class=\"custom-html\"><div class=\"category_btn btn_type_01\">\n<a href=\"https:\/\/www.hiro-clinic.or.jp\/app\/registration\/\"><\/p>\n<div class=\"category_btn_inner\">\n<p class=\"ttl-txt\">\u78ba\u304b\u306a\u30c7\u30fc\u30bf\u306b\u57fa\u3065\u3044\u305f\u9078\u629e<br \/>\u5b89\u5fc3\u306e<span>NIPT\u691c\u67fb<\/span><\/p>\n<p class=\"btn\">\u3054\u4e88\u7d04\u306f\u3053\u3061\u3089<\/p>\n<\/div>\n<p><\/a>\n<\/div>\n<\/div>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"1_CEP290%E9%96%A2%E9%80%A3%E3%83%AC%E3%83%BC%E3%83%90%E3%83%BC%E5%85%88%E5%A4%A9%E9%BB%92%E5%86%85%E9%9A%9CLCA10%E3%81%A8%E3%81%AF\"><\/span><strong>1. CEP290\u95a2\u9023\u30ec\u30fc\u30d0\u30fc\u5148\u5929\u9ed2\u5185\u969c(LCA10)\u3068\u306f<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>LCA10\u306f\u3001CEP290\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u3063\u3066\u7db2\u819c\u306e\u5149\u53d7\u5bb9\u4f53\u7d30\u80de\u304c\u6b63\u5e38\u306b\u50cd\u304b\u306a\u304f\u306a\u308b\u5148\u5929\u6027\u306e\u75be\u60a3\u3067\u3059\u3002<\/strong>\u307e\u305a\u306f\u75c5\u540d\u306e\u6574\u7406\u304b\u3089\u59cb\u3081\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u30ec\u30fc\u30d0\u30fc\u5148\u5929\u9ed2\u5185\u969c(Leber Congenital Amaurosis\u3001LCA)\u306f\u3001\u7db2\u819c\u306e\u907a\u4f1d\u6027\u75be\u60a3\u306e\u7dcf\u79f0\u3067\u3059\u3002\u539f\u56e0\u907a\u4f1d\u5b50\u306f20\u7a2e\u985e\u4ee5\u4e0a\u77e5\u3089\u308c\u3066\u304a\u308a\u3001\u756a\u53f7\u3054\u3068\u306b\u300cLCA1\u300d\u300cLCA10\u300d\u306e\u3088\u3046\u306b\u5206\u985e\u3055\u308c\u3066\u3044\u307e\u3059\u3002CEP290\u304c\u539f\u56e0\u306e\u30bf\u30a4\u30d7\u304cLCA10\u3067\u3059\u3002<\/p>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"1024\" height=\"26\" src=\"\/nipt\/wp-content\/uploads\/2025\/06\/CEP290-hgtIdeo_genome_asia_ca18b_d00b0-1024x26.png\" alt=\"CEP290\u907a\u4f1d\u5b50\u306e\u4f4d\u7f6e(\u7b2c12\u67d3\u8272\u4f53q21.32)\" class=\"wp-image-101543\"\/><figcaption class=\"wp-element-caption\">CEP290\u907a\u4f1d\u5b50\u306f\u7b2c12\u67d3\u8272\u4f53\u306eq21.32\u3068\u3044\u3046\u4f4d\u7f6e\u306b\u3042\u308a\u307e\u3059\u3002<\/figcaption><\/figure><\/div>\n\n\n<p>CEP290\u907a\u4f1d\u5b50\u306f\u3001\u7d30\u80de\u306e\u4e2d\u5fc3\u5c0f\u4f53\u3068\u7dda\u6bdb\u3068\u3044\u3046\u5fae\u7d30\u306a\u69cb\u9020\u306e\u5f62\u6210\u306b\u95a2\u308f\u308b\u30bf\u30f3\u30d1\u30af\u8cea\u306e\u8a2d\u8a08\u56f3\u3067\u3059\u3002\u7db2\u819c\u306e\u5149\u53d7\u5bb9\u4f53\u7d30\u80de\u3067\u306f\u3001\u5149\u3092\u611f\u3058\u308b\u90e8\u5206\u3068\u7d30\u80de\u672c\u4f53\u3092\u3064\u306a\u3050\u300c\u9023\u7d50\u7dda\u6bdb\u300d\u306e\u50cd\u304d\u306b\u6b20\u304b\u305b\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>LCA10\u3067\u306f\u3001\u76ee\u306e\u4e2d\u5fc3\u90e8\u5206\u306b\u3042\u305f\u308b\u4e2d\u5fc3\u7aa9\u306e\u69cb\u9020\u304c\u6bd4\u8f03\u7684\u4fdd\u305f\u308c\u305f\u307e\u307e\u3001\u8996\u6a5f\u80fd\u3060\u3051\u304c\u5927\u304d\u304f\u640d\u306a\u308f\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u69cb\u9020\u304c\u4fdd\u305f\u308c\u3066\u3044\u308b\u3068\u3044\u3046\u4e8b\u5b9f\u3053\u305d\u3001\u6cbb\u7642\u7814\u7a76\u304c\u7a4d\u307f\u91cd\u306d\u3089\u308c\u3066\u304d\u305f\u7406\u7531\u3067\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"2_%E4%B8%BB%E3%81%AA%E7%97%87%E7%8A%B6_%E9%87%8D%E5%BA%A6%E3%81%AE%E8%A6%96%E5%8A%9B%E9%9A%9C%E5%AE%B3%E3%83%BB%E7%9C%BC%E6%8C%AF%E3%83%BB%E7%BE%9E%E6%98%8E\"><\/span><strong>2. \u4e3b\u306a\u75c7\u72b6:\u91cd\u5ea6\u306e\u8996\u529b\u969c\u5bb3\u30fb\u773c\u632f\u30fb\u7f9e\u660e<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u75c7\u72b6\u306f\u751f\u5f8c\u307e\u3082\u306a\u304f\u304b\u3089\u73fe\u308c\u3001\u91cd\u5ea6\u306e\u8996\u529b\u4f4e\u4e0b\u30fb\u773c\u632f\u30fb\u5bfe\u5149\u53cd\u5fdc\u306e\u4f4e\u4e0b\u304c\u4e2d\u5fc3\u7684\u306a\u7279\u5fb4\u3067\u3059\u3002<\/strong>\u5177\u4f53\u7684\u306a\u7279\u5fb4\u3092\u8868\u3067\u6574\u7406\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<figure class=\"wp-block-table\"><table class=\"has-fixed-layout\"><thead><tr><th>\u75c7\u72b6<\/th><th>\u5177\u4f53\u7684\u306a\u7279\u5fb4<\/th><\/tr><\/thead><tbody><tr><td>\u91cd\u5ea6\u306e\u8996\u529b\u969c\u5bb3<\/td><td>\u5149\u3092\u611f\u3058\u308b\u7a0b\u5ea6\u304b\u3089\u3001\u307b\u307c\u5168\u76f2\u306b\u8fd1\u3044\u72b6\u614b\u307e\u3067\u5e45\u304c\u3042\u308b<\/td><\/tr><tr><td>\u773c\u632f(\u304c\u3093\u3057\u3093)<\/td><td>\u76ee\u304c\u7121\u610f\u8b58\u306b\u5de6\u53f3\u3078\u63fa\u308c\u308b\u3002\u751f\u5f8c\u6570\u304b\u6708\u3067\u6c17\u3065\u304b\u308c\u3084\u3059\u3044<\/td><\/tr><tr><td>\u5bfe\u5149\u53cd\u5fdc\u306e\u4f4e\u4e0b<\/td><td>\u5149\u3092\u5f53\u3066\u3066\u3082\u77b3\u5b54\u304c\u53cd\u5fdc\u3057\u306b\u304f\u3044\u3001\u307e\u305f\u306f\u307b\u307c\u53cd\u5fdc\u3057\u306a\u3044<\/td><\/tr><tr><td>\u9ad8\u9060\u8996<\/td><td>\u8fd1\u304f\u3082\u9060\u304f\u3082\u50cf\u3092\u7d50\u3073\u306b\u304f\u3044\u3001\u5f37\u3044\u9060\u8996\u3092\u4f34\u3046\u3053\u3068\u304c\u591a\u3044<\/td><\/tr><tr><td>\u7f9e\u660e(\u3057\u3085\u3046\u3081\u3044)<\/td><td>\u660e\u308b\u3044\u5834\u6240\u3067\u307e\u3076\u3057\u3055\u3092\u5f37\u304f\u611f\u3058\u308b<\/td><\/tr><tr><td>\u773c\u6307\u75c7\u5019<\/td><td>\u76ee\u3092\u6307\u3067\u62bc\u3057\u305f\u308a\u3053\u3059\u3063\u305f\u308a\u3059\u308b\u7656(\u8996\u899a\u523a\u6fc0\u3092\u6c42\u3081\u308b\u884c\u52d5)<\/td><\/tr><\/tbody><\/table><\/figure>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E8%A7%92%E8%86%9C%E3%82%84%E8%A6%96%E7%B7%9A%E3%81%AE%E5%90%88%E4%BD%B5%E7%97%87\"><\/span><strong>\u89d2\u819c\u3084\u8996\u7dda\u306e\u5408\u4f75\u75c7<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u89d2\u819c\u304c\u5f90\u3005\u306b\u8584\u304f\u306a\u308a\u4e2d\u5fc3\u304c\u7a81\u51fa\u3059\u308b\u89d2\u819c\u5186\u9310\u75c7\u3092\u5408\u4f75\u3059\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002\u7269\u3092\u76ee\u3067\u8ffd\u308f\u306a\u3044\u3001\u8996\u7dda\u304c\u5408\u308f\u306a\u3044\u3068\u3044\u3063\u305f\u69d8\u5b50\u304b\u3089\u5468\u56f2\u304c\u6c17\u3065\u304f\u30b1\u30fc\u30b9\u3082\u5c11\u306a\u304f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%85%A8%E8%BA%AB%E7%97%87%E7%8A%B6%E3%82%92%E4%BC%B4%E3%81%86%E5%A0%B4%E5%90%88\"><\/span><strong>\u5168\u8eab\u75c7\u72b6\u3092\u4f34\u3046\u5834\u5408<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u4e00\u90e8\u306e\u304a\u5b50\u3055\u3093\u3067\u306f\u3001\u904b\u52d5\u767a\u9054\u3084\u8a00\u8a9e\u767a\u9054\u304c\u3086\u3063\u304f\u308a\u3067\u3042\u3063\u305f\u308a\u3001\u814e\u81d3\u3084\u5c0f\u8133\u306e\u7570\u5e38\u3092\u4f34\u3063\u305f\u308a\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u6b21\u306e\u7ae0\u3067\u89e3\u8aac\u3059\u308b\u95a2\u9023\u75be\u60a3\u306e\u53ef\u80fd\u6027\u3092\u5ff5\u982d\u306b\u7f6e\u3044\u305f\u8a55\u4fa1\u304c\u5fc5\u8981\u3067\u3059\u3002<\/p>\n\n\n<!--nipt_mono-->\r\n<div class=\"nipt-mono\">\r\n    <div class=\"nipt-mono-btn\">\r\n        <a href=\"\/nipt\/nipt-mono\/\">\r\n            <img decoding=\"async\" loading=\"lazy\" src=\"\/nipt\/wp-content\/uploads\/2026\/03\/NIPT-MONO.webp\" alt=\"NIPT-MONO\u3067\u8abf\u3079\u3089\u308c\u307e\u3059\">\r\n         <\/a>\r\n    <\/div>\r\n<\/div>\r\n\r\n<style>\r\n.nipt-mono {\r\n    text-align: center; \/* \u89aa\u8981\u7d20\u3067\u6a2a\u4e2d\u592e *\/\r\n}\r\n.nipt-mono a img {\r\n    display: inline-block; \/* \u753b\u50cf\u3092\u30a4\u30f3\u30e9\u30a4\u30f3\u30d6\u30ed\u30c3\u30af\u5316\u3057\u3066 text-align \u306b\u53cd\u6620 *\/\r\n    width: 333px;\r\n}\r\n<\/style>\r\n<!--\/nipt_mono-->\r\n\r\n\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"3_CEP290%E3%81%AF%E3%81%AA%E3%81%9CLCA%E3%81%AE%E5%8E%9F%E5%9B%A0%E9%81%BA%E4%BC%9D%E5%AD%90%E3%81%AE%E4%B8%AD%E3%81%A7%E9%A0%BB%E5%BA%A6%E3%81%8C%E9%AB%98%E3%81%84%E3%81%AE%E3%81%8B\"><\/span><strong>3. CEP290\u306f\u306a\u305cLCA\u306e\u539f\u56e0\u907a\u4f1d\u5b50\u306e\u4e2d\u3067\u983b\u5ea6\u304c\u9ad8\u3044\u306e\u304b<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>LCA\u306e\u539f\u56e0\u907a\u4f1d\u5b50\u306f20\u7a2e\u985e\u4ee5\u4e0a\u77e5\u3089\u308c\u3066\u3044\u307e\u3059\u304c\u3001CEP290\u306e\u5909\u7570\u306f\u305d\u306e\u306a\u304b\u3067\u3082\u5831\u544a\u6570\u306e\u591a\u3044\u90e8\u985e\u306b\u5165\u308a\u307e\u3059\u3002<\/strong>\u6570\u5b57\u3067\u898b\u3066\u3044\u304d\u307e\u3057\u3087\u3046\u3002<\/p>\n\n\n\n<p>\u7c73\u56fd\u56fd\u7acb\u533b\u5b66\u56f3\u66f8\u9928\u306eGeneReviews\u306b\u3088\u308b\u3068\u3001CEP290\u306fLCA\u5168\u4f53\u306e\u7d0415\u301c20%\u3092\u5360\u3081\u308b\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002GUCY2D(\u7d0410\u301c20%)\u3001CRB1(\u7d0410%)\u3068\u4e26\u3073\u3001\u983b\u5ea6\u306e\u9ad8\u3044\u539f\u56e0\u907a\u4f1d\u5b50\u306e\u4e00\u3064\u3067\u3059\u3002<\/p>\n\n\n\n<p>CEP290\u5909\u7570\u306e\u306a\u304b\u3067\u3082\u3063\u3068\u3082\u591a\u304f\u898b\u3064\u304b\u308b\u306e\u304c\u3001\u6df1\u90e8\u30a4\u30f3\u30c8\u30ed\u30f3\u5909\u7570\u300cc.2991+1655A&gt;G\u300d(\u5225\u540dIVS26)\u3067\u3059\u3002\u3053\u306e\u5909\u7570\u306fDNA\u306e\u8aad\u307f\u53d6\u308a\u67a0\u306b\u672c\u6765\u306a\u3044\u300c\u507d\u306e\u30a8\u30af\u30bd\u30f3\u300d\u3092\u4f5c\u308a\u51fa\u3057\u3001\u6b63\u5e38\u306a\u30bf\u30f3\u30d1\u30af\u8cea\u306e\u7523\u751f\u3092\u59a8\u3052\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u5909\u7570\u306f\u7279\u306b\u6b27\u7c73\u3067\u591a\u304f\u5831\u544a\u3055\u308c\u3066\u304a\u308a\u3001\u4e00\u90e8\u306e\u5831\u544a\u3067\u306fCEP290\u95a2\u9023LCA\u60a3\u8005\u306e\u7d0477%\u3092\u5360\u3081\u308b\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u4e00\u65b9\u3067\u30a2\u30b8\u30a2\u5730\u57df\u3067\u306f\u3001\u4ed6\u306e\u907a\u4f1d\u5b50\u3084\u5225\u306e\u5909\u7570\u30d1\u30bf\u30fc\u30f3\u304c\u539f\u56e0\u306b\u306a\u308b\u30b1\u30fc\u30b9\u304c\u76f8\u5bfe\u7684\u306b\u591a\u3044\u3053\u3068\u3082\u77e5\u3089\u308c\u3066\u3044\u307e\u3059\u3002\u5730\u57df\u306b\u3088\u308b\u5dee\u304c\u5927\u304d\u3044\u75be\u60a3\u3002<\/p>\n\n\n<div class=\"custom-html\"><div class=\"category_btn btn_type_01\">\n<a href=\"https:\/\/www.hiro-clinic.or.jp\/app\/registration\/\"><\/p>\n<div class=\"category_btn_inner\">\n<p class=\"ttl-txt\">\u78ba\u304b\u306a\u30c7\u30fc\u30bf\u306b\u57fa\u3065\u3044\u305f\u9078\u629e<br \/>\u5b89\u5fc3\u306e<span>NIPT\u691c\u67fb<\/span><\/p>\n<p class=\"btn\">\u3054\u4e88\u7d04\u306f\u3053\u3061\u3089<\/p>\n<\/div>\n<p><\/a>\n<\/div>\n<\/div>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"4_%E5%8E%9F%E5%9B%A0_%E7%B7%9A%E6%AF%9B%E3%81%AE%E5%83%8D%E3%81%8D%E3%81%A8%E5%B8%B8%E6%9F%93%E8%89%B2%E4%BD%93%E6%BD%9C%E6%80%A7%E9%81%BA%E4%BC%9D\"><\/span><strong>4. \u539f\u56e0:\u7dda\u6bdb\u306e\u50cd\u304d\u3068\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>CEP290\u907a\u4f1d\u5b50\u306f\u3001\u5149\u53d7\u5bb9\u4f53\u7d30\u80de\u306e\u9023\u7d50\u7dda\u6bdb\u3068\u3044\u3046\u69cb\u9020\u3092\u3064\u304f\u308b\u30bf\u30f3\u30d1\u30af\u8cea\u306e\u8a2d\u8a08\u56f3\u3067\u3059\u3002<\/strong>\u5b58\u5728\u3059\u308b\u5834\u6240\u306f\u3001\u7b2c12\u67d3\u8272\u4f53\u306eq21.32\u3002<\/p>\n\n\n\n<p>\u9023\u7d50\u7dda\u6bdb\u306f\u3001\u5149\u3092\u611f\u3058\u308b\u90e8\u5206\u3068\u7d30\u80de\u306e\u672c\u4f53\u3092\u3064\u306a\u3050\u7d30\u3044\u30d1\u30a4\u30d7\u306e\u3088\u3046\u306a\u69cb\u9020\u3067\u3059\u3002\u3053\u3053\u3092\u901a\u3058\u3066\u3001\u8996\u899a\u306b\u5fc5\u8981\u306a\u30bf\u30f3\u30d1\u30af\u8cea\u304c\u7d76\u3048\u305a\u904b\u3070\u308c\u3066\u3044\u307e\u3059\u3002CEP290\u306b\u7570\u5e38\u304c\u3042\u308b\u3068\u3001\u3053\u306e\u8f38\u9001\u304c\u3046\u307e\u304f\u3044\u304b\u306a\u304f\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u5148\u8ff0\u306eIVS26\u5909\u7570\u3067\u306f\u3001\u507d\u306e\u30a8\u30af\u30bd\u30f3\u3092\u542b\u3080\u4e0d\u5b8c\u5168\u306amRNA\u304c\u3067\u304d\u3001\u9014\u4e2d\u3067\u5207\u308c\u305f\u30bf\u30f3\u30d1\u30af\u8cea\u3057\u304b\u4f5c\u3089\u308c\u307e\u305b\u3093\u3002\u3053\u306e\u7570\u5e38\u306f\u5168\u8eab\u306e\u7d30\u80de\u3067\u8d77\u3053\u308a\u5f97\u307e\u3059\u304c\u3001\u7db2\u819c\u3067\u3068\u308a\u308f\u3051\u5f37\u304f\u75c7\u72b6\u306b\u8868\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E9%81%BA%E4%BC%9D%E3%81%AE%E4%BB%95%E7%B5%84%E3%81%BF_%E5%B8%B8%E6%9F%93%E8%89%B2%E4%BD%93%E6%BD%9C%E6%80%A7%E9%81%BA%E4%BC%9D\"><\/span><strong>\u907a\u4f1d\u306e\u4ed5\u7d44\u307f:\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>CEP290\u95a2\u9023LCA10\u306f\u3001\u5e38\u67d3\u8272\u4f53<strong>\u6f5c\u6027<\/strong>\u907a\u4f1d\u306e\u5f62\u5f0f\u3092\u3068\u308a\u307e\u3059\u3002\u4e21\u65b9\u306e\u89aa\u304b\u3089\u5909\u7570\u30921\u3064\u305a\u3064\u53d7\u3051\u7d99\u3044\u3060\u3068\u304d\u306b\u767a\u75c7\u3059\u308b\u75c5\u6c17\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u79c1\u3082\u3001\u300c\u5bb6\u7cfb\u306b\u540c\u3058\u75c5\u6c17\u306e\u4eba\u306f\u3044\u306a\u3044\u306e\u306b\u3001\u306a\u305c\u300d\u3068\u8a71\u3059\u3054\u4e21\u89aa\u306b\u51fa\u4f1a\u3046\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u6f5c\u6027\u907a\u4f1d\u306e\u75c5\u6c17\u306f\u3001\u4e21\u89aa\u304c\u3068\u3082\u306b\u5065\u5eb7\u306a\u4fdd\u56e0\u8005\u3067\u3042\u3063\u3066\u3082\u3001\u5b50\u3069\u3082\u306b\u75c7\u72b6\u304c\u73fe\u308c\u308b\u3053\u3068\u304c\u3042\u308b\u70b9\u304c\u7279\u5fb4\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u4e21\u89aa\u304c\u3068\u3082\u306b\u4fdd\u56e0\u8005\u306e\u5834\u5408\u3001\u6b21\u306e\u304a\u5b50\u69d8\u306f25%\u306e\u78ba\u7387\u3067\u767a\u75c7\u3057\u307e\u3059\u300250%\u306e\u78ba\u7387\u3067\u75c7\u72b6\u306e\u306a\u3044\u4fdd\u56e0\u8005\u300125%\u306e\u78ba\u7387\u3067\u5909\u7570\u3092\u6301\u305f\u306a\u3044\u3068\u3044\u3046\u898b\u901a\u3057\u3067\u3059\u3002\u6b63\u78ba\u306a\u518d\u767a\u30ea\u30b9\u30af\u306f\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3067\u78ba\u8a8d\u3057\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"5_%E3%82%B8%E3%83%A5%E3%83%99%E3%83%BC%E3%83%AB%E7%97%87%E5%80%99%E7%BE%A4%E3%83%BB%E3%83%90%E3%83%AB%E3%83%87%E3%83%BC%E3%83%BB%E3%83%93%E3%83%BC%E3%83%89%E3%83%AB%E7%97%87%E5%80%99%E7%BE%A4%E3%81%A8%E3%81%AE%E9%96%A2%E4%BF%82\"><\/span><strong>5. \u30b8\u30e5\u30d9\u30fc\u30eb\u75c7\u5019\u7fa4\u30fb\u30d0\u30eb\u30c7\u30fc\u30fb\u30d3\u30fc\u30c9\u30eb\u75c7\u5019\u7fa4\u3068\u306e\u95a2\u4fc2<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>CEP290\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306f\u3001\u76ee\u3060\u3051\u3067\u306a\u304f\u8907\u6570\u306e\u81d3\u5668\u306b\u5f71\u97ff\u3059\u308b\u300c\u7e4a\u6bdb\u75c5(\u305b\u3093\u3082\u3046\u3073\u3087\u3046)\u300d\u3068\u3044\u3046\u75be\u60a3\u7fa4\u306e\u539f\u56e0\u306b\u3082\u306a\u308a\u307e\u3059\u3002<\/strong>\u9023\u7d50\u7dda\u6bdb\u306e\u7570\u5e38\u304c\u3001\u4ed6\u306e\u81d3\u5668\u306e\u7dda\u6bdb\u306b\u3082\u5f71\u97ff\u3059\u308b\u305f\u3081\u3067\u3059\u3002<\/p>\n\n\n\n<p>GeneReviews\u306f\u3001CEP290\u306e\u5909\u7570\u304c\u95a2\u308f\u308b\u75be\u60a3\u3068\u3057\u3066\u4ee5\u4e0b\u3092\u6319\u3052\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<figure class=\"wp-block-table\"><table class=\"has-fixed-layout\"><thead><tr><th>\u95a2\u9023\u75be\u60a3<\/th><th>\u4e3b\u306a\u7279\u5fb4<\/th><\/tr><\/thead><tbody><tr><td>\u30b8\u30e5\u30d9\u30fc\u30eb\u75c7\u5019\u7fa45\u578b<\/td><td>\u5c0f\u8133\u3084\u8133\u5e79\u306e\u5f62\u6210\u7570\u5e38\u3001\u904b\u52d5\u5931\u8abf\u3001\u767a\u9054\u306e\u9045\u308c\u3092\u4f34\u3046<\/td><\/tr><tr><td>\u30d0\u30eb\u30c7\u30fc\u30fb\u30d3\u30fc\u30c9\u30eb\u75c7\u5019\u7fa414\u578b<\/td><td>\u7db2\u819c\u5909\u6027\u306b\u52a0\u3048\u3001\u80a5\u6e80\u30fb\u591a\u6307\u75c7\u30fb\u814e\u7570\u5e38\u306a\u3069\u3092\u4f34\u3046<\/td><\/tr><tr><td>\u30bb\u30f3\u30cb\u30a2\u30fb\u30ed\u30fc\u30b1\u30f3\u75c7\u5019\u7fa4(NPHP6)<\/td><td>\u7db2\u819c\u5909\u6027\u3068\u814e\u81d3\u306e\u7dda\u7dad\u5316(\u30cd\u30d5\u30ed\u30f3\u7646)\u3092\u4f34\u3046<\/td><\/tr><tr><td>\u30de\u30a4\u30b1\u30eb\u75c7\u5019\u7fa44\u578b<\/td><td>\u8133\u30fb\u814e\u81d3\u30fb\u809d\u81d3\u306e\u91cd\u3044\u5f62\u6210\u7570\u5e38\u3092\u4f34\u3046\u3001\u3088\u308a\u91cd\u75c7\u306e\u578b<\/td><\/tr><\/tbody><\/table><\/figure>\n\n\n\n<p>\u540c\u3058CEP290\u3068\u3044\u3046\u907a\u4f1d\u5b50\u3067\u3082\u3001\u5909\u7570\u306e\u4f4d\u7f6e\u3084\u7a2e\u985e\u306b\u3088\u3063\u3066\u75c7\u72b6\u306e\u7bc4\u56f2\u304c\u5927\u304d\u304f\u7570\u306a\u308a\u307e\u3059\u3002\u7db2\u819c\u3060\u3051\u306b\u3068\u3069\u307e\u308b\u5834\u5408\u3082\u3042\u308c\u3070\u3001\u814e\u81d3\u3084\u8133\u3092\u542b\u3080\u5168\u8eab\u306e\u75c7\u72b6\u306b\u3064\u306a\u304c\u308b\u5834\u5408\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u814e\u81d3\u306e\u5408\u4f75\u75c7\u306b\u3064\u3044\u3066\u306f\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nephronophthisis\/\">\u30cd\u30d5\u30ed\u30f3\u7646(Nephronophthisis)<\/a>\u306e\u8a18\u4e8b\u3067\u3082\u8a73\u3057\u304f\u89e3\u8aac\u3057\u3066\u3044\u307e\u3059\u3002CEP290\u306f\u3053\u306e\u75c5\u6c17\u306e\u539f\u56e0\u907a\u4f1d\u5b50\u306e\u4e00\u3064(NPHP6)\u3068\u3057\u3066\u3082\u77e5\u3089\u308c\u3066\u3044\u307e\u3059\u3002\u8a3a\u65ad\u6642\u306b\u306f\u3001\u773c\u79d1\u3060\u3051\u3067\u306a\u304f\u814e\u81d3\u3084\u795e\u7d4c\u306e\u72b6\u614b\u3082\u3042\u308f\u305b\u3066\u78ba\u8a8d\u3059\u308b\u3053\u3068\u304c\u5927\u5207\u3067\u3059\u3002<\/p>\n\n\n<!--nipt_mono-->\r\n<div class=\"nipt-mono\">\r\n    <div class=\"nipt-mono-btn\">\r\n        <a href=\"\/nipt\/nipt-mono\/\">\r\n            <img decoding=\"async\" loading=\"lazy\" src=\"\/nipt\/wp-content\/uploads\/2026\/03\/NIPT-MONO.webp\" alt=\"NIPT-MONO\u3067\u8abf\u3079\u3089\u308c\u307e\u3059\">\r\n         <\/a>\r\n    <\/div>\r\n<\/div>\r\n\r\n<style>\r\n.nipt-mono {\r\n    text-align: center; \/* \u89aa\u8981\u7d20\u3067\u6a2a\u4e2d\u592e *\/\r\n}\r\n.nipt-mono a img {\r\n    display: inline-block; \/* \u753b\u50cf\u3092\u30a4\u30f3\u30e9\u30a4\u30f3\u30d6\u30ed\u30c3\u30af\u5316\u3057\u3066 text-align \u306b\u53cd\u6620 *\/\r\n    width: 333px;\r\n}\r\n<\/style>\r\n<!--\/nipt_mono-->\r\n\r\n\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"6_%E6%A4%9C%E6%9F%BB%E3%83%BB%E8%A8%BA%E6%96%AD%E3%81%AE%E6%B5%81%E3%82%8C\"><\/span><strong>6. \u691c\u67fb\u30fb\u8a3a\u65ad\u306e\u6d41\u308c<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u8a3a\u65ad\u306f\u3001\u773c\u79d1\u7684\u691c\u67fb\u3068\u907a\u4f1d\u5b66\u7684\u691c\u67fb\u3092\u7d44\u307f\u5408\u308f\u305b\u3066\u884c\u3044\u307e\u3059\u3002<\/strong>\u305d\u308c\u305e\u308c\u306e\u691c\u67fb\u3067\u78ba\u8a8d\u3059\u308b\u5185\u5bb9\u3092\u898b\u3066\u3044\u304d\u307e\u3057\u3087\u3046\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%9C%BC%E7%A7%91%E7%9A%84%E6%A4%9C%E6%9F%BB\"><\/span><strong>\u773c\u79d1\u7684\u691c\u67fb<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u7db2\u819c\u96fb\u56f3(ERG)\u306f\u3001\u5149\u306b\u5bfe\u3059\u308b\u7db2\u819c\u306e\u53cd\u5fdc\u3092\u6e2c\u308b\u691c\u67fb\u3067\u3059\u3002LCA10\u3067\u306f\u307b\u307c\u7121\u53cd\u5fdc\u3068\u306a\u308b\u3053\u3068\u304c\u5178\u578b\u7684\u306a\u6240\u898b\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u5149\u5e72\u6e09\u65ad\u5c64\u8a08(OCT)\u3067\u306f\u3001\u7db2\u819c\u306e\u65ad\u9762\u69cb\u9020\u3092\u8a73\u3057\u304f\u78ba\u8a8d\u3057\u307e\u3059\u3002\u5148\u8ff0\u306e\u3068\u304a\u308a\u3001\u4e2d\u5fc3\u7aa9\u306e\u69cb\u9020\u304c\u4fdd\u305f\u308c\u3066\u3044\u308b\u30b1\u30fc\u30b9\u304c\u591a\u304f\u898b\u3089\u308c\u308b\u70b9\u304c\u7279\u5fb4\u7684\u3067\u3059\u3002\u773c\u5e95\u691c\u67fb\u3067\u306f\u3001\u9032\u884c\u306b\u4f34\u3063\u3066\u767d\u3044\u6591\u70b9\u3084\u8272\u7d20\u6c88\u7740\u304c\u73fe\u308c\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%A2%BA%E5%AE%9A%E8%A8%BA%E6%96%AD%E3%81%A8%E3%81%97%E3%81%A6%E3%81%AE%E9%81%BA%E4%BC%9D%E5%AD%90%E6%A4%9C%E6%9F%BB\"><\/span><strong>\u78ba\u5b9a\u8a3a\u65ad\u3068\u3057\u3066\u306e\u907a\u4f1d\u5b50\u691c\u67fb<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u78ba\u5b9a\u8a3a\u65ad\u306b\u306f\u3001\u7db2\u819c\u75be\u60a3\u306e\u30de\u30eb\u30c1\u907a\u4f1d\u5b50\u30d1\u30cd\u30eb\u691c\u67fb\u306b\u3088\u308bCEP290\u306e\u75c5\u7684\u5909\u7570\u306e\u78ba\u8a8d\u304c\u6b20\u304b\u305b\u307e\u305b\u3093\u3002\u5909\u7570\u306e\u7a2e\u985e\u304c\u7279\u5b9a\u3067\u304d\u308c\u3070\u3001\u6b21\u7ae0\u3067\u7d39\u4ecb\u3059\u308b\u81e8\u5e8a\u8a66\u9a13\u3078\u306e\u53c2\u52a0\u691c\u8a0e\u306b\u3082\u3064\u306a\u304c\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E9%91%91%E5%88%A5%E3%81%8C%E5%BF%85%E8%A6%81%E3%81%AA%E7%96%BE%E6%82%A3\"><\/span><strong>\u9451\u5225\u304c\u5fc5\u8981\u306a\u75be\u60a3<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u8272\u899a\u7570\u5e38\u75c7\u3001\u5148\u5929\u6027\u591c\u76f2\u75c7\u3001\u767d\u5b50\u75c7\u3001\u795e\u7d4c\u30bb\u30ed\u30a4\u30c9\u30ea\u30dd\u30d5\u30b9\u30c1\u30f3\u75c7\u306a\u3069\u3068\u306e\u9451\u5225\u304c\u5fc5\u8981\u3067\u3059\u3002CEP290\u4ee5\u5916\u306e\u539f\u56e0\u907a\u4f1d\u5b50\u306b\u3088\u308bLCA\u3068\u306e\u533a\u5225\u306b\u3082\u3001\u907a\u4f1d\u5b50\u691c\u67fb\u304c\u5f79\u7acb\u3061\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u8996\u899a\u3068\u8272\u306e\u4e21\u65b9\u306b\u969c\u5bb3\u304c\u53ca\u3076\u5148\u5929\u6027\u306e\u75be\u60a3\u3068\u3057\u3066\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/achromatopsia-cngb3-overview\/\">CNGB3\u907a\u4f1d\u5b50\u95a2\u9023\u30a2\u30af\u30ed\u30de\u30c8\u30d7\u30b7\u30a2(\u5168\u8272\u76f2)<\/a>\u3082\u3042\u308a\u307e\u3059\u3002LCA10\u3068\u306f\u539f\u56e0\u907a\u4f1d\u5b50\u3082\u75c7\u72b6\u306e\u4e2d\u5fc3\u3082\u7570\u306a\u308a\u307e\u3059\u304c\u3001\u4e73\u5150\u671f\u306e\u8996\u899a\u969c\u5bb3\u3068\u3044\u3046\u70b9\u3067\u9451\u5225\u306e\u5bfe\u8c61\u306b\u306a\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u3042\u308f\u305b\u3066\u3054\u89a7\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n    <a href=\"\/nipt\/achromatopsia-cngb3-overview\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">CNGB3\u95a2\u9023\u5148\u5929\u6027\u8272\u899a\u7570\u5e38\uff08\u30a2\u30af\u30ed\u30de\u30c8\u30d7\u30b7\u30a2\u30fb\u30bf\u30a4\u30d73\uff09\u3010CNGB3\u3011 <\/div>\n          <div class=\"blog-card-excerpt\">\u5148\u5929\u6027\u8272\u899a\u7570\u5e38\u300c\u30a2\u30af\u30ed\u30de\u30c8\u30d7\u30b7\u30a2\u300d\u306e\u4e2d\u3067\u3082\u591a\u3044CNGB3\u95a2\u9023\u578b\uff08Achromatopsia 3\uff09\u306b\u3064\u3044\u3066\u3001\u539f\u56e0\u3084\u75c7\u72b6\u3001\u6700\u65b0\u306e\u6cbb\u7642\u6cd5\u3092\u3084\u3055\u3057\u304f...<\/div>\n      <\/div>\n    <\/a>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"7_%E6%B2%BB%E7%99%82%E3%81%A8%E7%AE%A1%E7%90%86_%E5%AF%BE%E7%97%87%E7%99%82%E6%B3%95%E3%81%A8%E9%81%BA%E4%BC%9D%E5%AD%90%E6%B2%BB%E7%99%82%E7%A0%94%E7%A9%B6%E3%81%AE%E6%9C%80%E5%89%8D%E7%B7%9A\"><\/span><strong>7. \u6cbb\u7642\u3068\u7ba1\u7406:\u5bfe\u75c7\u7642\u6cd5\u3068\u907a\u4f1d\u5b50\u6cbb\u7642\u7814\u7a76\u306e\u6700\u524d\u7dda<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u73fe\u6642\u70b9\u3067CEP290\u95a2\u9023LCA10\u306b\u5bfe\u3059\u308b\u627f\u8a8d\u3055\u308c\u305f\u6839\u672c\u7684\u6cbb\u7642\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/strong>\u5bfe\u75c7\u7642\u6cd5\u306e\u5185\u5bb9\u3068\u3001\u7814\u7a76\u6bb5\u968e\u306b\u3042\u308b2\u3064\u306e\u6cbb\u7642\u30a2\u30d7\u30ed\u30fc\u30c1\u3092\u5206\u3051\u3066\u6574\u7406\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%8F%BE%E5%9C%A8%E5%8F%97%E3%81%91%E3%82%89%E3%82%8C%E3%82%8B%E5%AF%BE%E7%97%87%E7%99%82%E6%B3%95\"><\/span><strong>\u73fe\u5728\u53d7\u3051\u3089\u308c\u308b\u5bfe\u75c7\u7642\u6cd5<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u8996\u529b\u88dc\u52a9\u5177\u306e\u4f7f\u7528\u3001\u9060\u8996\u306e\u77ef\u6b63\u773c\u93e1\u3001\u89d2\u819c\u5186\u9310\u75c7\u3084\u767d\u5185\u969c\u306a\u3069\u5408\u4f75\u75c7\u306e\u7ba1\u7406\u304c\u4e2d\u5fc3\u3067\u3059\u3002\u65e9\u671f\u7642\u80b2\u3084\u3001\u97f3\u30fb\u89e6\u899a\u3092\u6d3b\u7528\u3057\u305f\u767a\u9054\u652f\u63f4\u3082\u6b20\u304b\u305b\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u306a\u304a\u3001CEP290\u3068\u306f\u5225\u306e\u907a\u4f1d\u5b50\u3067\u3042\u308bRPE65\u306e\u5909\u7570\u306b\u3088\u308bLCA\u3067\u306f\u3001voretigene neparvovec\u3068\u3044\u3046AAV\u907a\u4f1d\u5b50\u6cbb\u7642\u304c\u6d77\u5916\u3067\u627f\u8a8d\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u3053\u306e\u6cbb\u7642\u306fRPE65\u5909\u7570\u4f8b\u304c\u5bfe\u8c61\u3067\u3001CEP290\u5909\u7570\u4f8b\u306b\u306f\u4f7f\u7528\u3067\u304d\u307e\u305b\u3093\u3002\u6df7\u540c\u3057\u306a\u3044\u3088\u3046\u6ce8\u610f\u304c\u5fc5\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%82%A2%E3%83%B3%E3%83%81%E3%82%BB%E3%83%B3%E3%82%B9%E8%96%AC%E3%82%BB%E3%83%9D%E3%83%95%E3%82%A1%E3%83%BC%E3%82%BB%E3%83%B3%E3%81%AE%E7%8F%BE%E7%8A%B6\"><\/span><strong>\u30a2\u30f3\u30c1\u30bb\u30f3\u30b9\u85ac(\u30bb\u30dd\u30d5\u30a1\u30fc\u30bb\u30f3)\u306e\u73fe\u72b6<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u30bb\u30dd\u30d5\u30a1\u30fc\u30bb\u30f3(Sepofarsen\/QR-110)\u306f\u3001\u507d\u306e\u30a8\u30af\u30bd\u30f3\u3092mRNA\u304b\u3089\u53d6\u308a\u9664\u304d\u3001\u6b63\u5e38\u306b\u8fd1\u3044CEP290\u30bf\u30f3\u30d1\u30af\u8cea\u306e\u7523\u751f\u3092\u76ee\u6307\u3059\u30a2\u30f3\u30c1\u30bb\u30f3\u30b9\u85ac\u3068\u3057\u3066\u958b\u767a\u304c\u9032\u3081\u3089\u308c\u307e\u3057\u305f\u3002<\/p>\n\n\n\n<p>\u958b\u767a\u5143\u306eProQR\u793e\u306f\u3001\u7b2c2\/3\u76f8ILLUMINATE\u8a66\u9a13(\u7121\u4f5c\u70ba\u5316\u30fb\u507d\u6ce8\u5c04\u5bfe\u7167)\u3092\u5b9f\u65bd\u3057\u307e\u3057\u305f\u3002\u6295\u4e0e12\u304b\u6708\u6642\u70b9\u306e\u6700\u9ad8\u77ef\u6b63\u8996\u529b\u306e\u5909\u5316\u306b\u3001\u6295\u4e0e\u7fa4\u3068\u507d\u6ce8\u5c04\u7fa4\u3067\u7d71\u8a08\u7684\u306a\u6709\u610f\u5dee\u306f\u78ba\u8a8d\u3055\u308c\u307e\u305b\u3093\u3067\u3057\u305f\u3002\u4e3b\u8981\u8a55\u4fa1\u9805\u76ee\u3092\u9054\u6210\u3067\u304d\u306a\u304b\u3063\u305f\u3053\u3068\u3092\u53d7\u3051\u3001\u3053\u306e\u85ac\u5264\u5358\u4f53\u3067\u306eLCA10\u5411\u3051\u958b\u767a\u306f\u7e2e\u5c0f\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"CRISPR%E9%81%BA%E4%BC%9D%E5%AD%90%E7%B7%A8%E9%9B%86EDIT-101%E3%81%AE%E7%8F%BE%E7%8A%B6\"><\/span><strong>CRISPR\u907a\u4f1d\u5b50\u7de8\u96c6(EDIT-101)\u306e\u73fe\u72b6<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>EDIT-101\u306f\u3001AAV5\u30a6\u30a4\u30eb\u30b9\u30d9\u30af\u30bf\u30fc\u3092\u4f7f\u3044\u3001CRISPR-Cas9\u306b\u3088\u3063\u3066\u7db2\u819c\u7d30\u80de\u5185\u3067IVS26\u5909\u7570\u3092\u76f4\u63a5\u5207\u9664\u3059\u308b\u3053\u3068\u3092\u76ee\u6307\u3059\u907a\u4f1d\u5b50\u7de8\u96c6\u6cbb\u7642\u3067\u3059\u3002\u7db2\u819c\u4e0b\u3078\u306e\u6ce8\u5c04(\u30b5\u30d6\u30ec\u30c6\u30a3\u30ca\u30eb\u6295\u4e0e)\u3067\u6295\u4e0e\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u7b2c1\/2\u76f8BRILLIANCE\u8a66\u9a13\u306b\u306f\u3001\u6210\u4eba12\u540d\u3068\u5c0f\u51502\u540d\u306e\u8a0814\u540d\u304c\u53c2\u52a0\u3057\u307e\u3057\u305f\u3002<\/p>\n\n\n\n<p>2024\u5e74\u306bNew England Journal of Medicine\u8a8c\u3078\u767a\u8868\u3055\u308c\u305f\u7d50\u679c\u3067\u306f\u3001\u6cbb\u7642\u306b\u95a2\u9023\u3059\u308b\u91cd\u7be4\u306a\u6709\u5bb3\u4e8b\u8c61\u306f\u78ba\u8a8d\u3055\u308c\u307e\u305b\u3093\u3067\u3057\u305f\u3002\u8996\u529b\u30fb\u5149\u611f\u53d7\u6027\u30fb\u79fb\u52d5\u80fd\u529b\u30fb\u751f\u6d3b\u306e\u8cea\u306e\u3044\u305a\u308c\u304b\u3067\u6539\u5584\u304c\u898b\u3089\u308c\u305f\u53c2\u52a0\u8005\u306f\u3001\u5168\u4f53\u306e\u7d0479%\u306b\u306e\u307c\u308a\u307e\u3057\u305f\u3002<\/p>\n\n\n\n<p>\u4e00\u65b9\u3067\u3001\u958b\u767a\u5143\u306eEditas Medicine\u793e\u306f\u65b9\u91dd\u3092\u8ee2\u63db\u3057\u307e\u3057\u305f\u3002IVS26\u5909\u7570\u306e\u30db\u30e2\u63a5\u5408\u578b\u3092\u6301\u3064\u5bfe\u8c61\u60a3\u8005\u304c\u7c73\u56fd\u5185\u3067\u63a8\u8a08300\u4eba\u7a0b\u5ea6\u3068\u5c11\u306a\u3044\u3053\u3068\u3092\u7406\u7531\u306b\u3001\u5358\u72ec\u3067\u306e\u958b\u767a\u7d99\u7d9a\u3092\u898b\u9001\u308a\u3001\u63d0\u643a\u5148\u3092\u63a2\u3059\u3068\u767a\u8868\u3057\u3066\u3044\u307e\u3059\u3002\u5b89\u5168\u6027\u306f\u78ba\u8a8d\u3067\u304d\u305f\u3082\u306e\u306e\u3001\u4e8b\u696d\u5316\u306e\u898b\u901a\u3057\u306f\u672a\u5b9a\u3068\u3044\u3046\u6bb5\u968e\u3067\u3059\u3002<\/p>\n\n\n\n<p><strong>\u907a\u4f1d\u5b50\u6cbb\u7642\u306f\u3044\u305a\u308c\u3082\u7814\u7a76\u30fb\u81e8\u5e8a\u8a66\u9a13\u306e\u6bb5\u968e\u3067\u3042\u308a\u3001\u4e00\u822c\u8a3a\u7642\u3068\u3057\u3066\u306e\u5b9f\u7528\u5316\u6642\u671f\u306f\u672a\u5b9a\u3067\u3059\u3002<\/strong>\u52b9\u679c\u3092\u4fdd\u8a3c\u3059\u308b\u6cbb\u7642\u3067\u306f\u306a\u304f\u3001\u904e\u5ea6\u306a\u671f\u5f85\u306f\u7981\u7269\u3067\u3059\u304c\u3001\u539f\u56e0\u907a\u4f1d\u5b50\u3068\u5909\u7570\u306e\u7a2e\u985e\u304c\u7279\u5b9a\u3067\u304d\u3066\u3044\u308b\u3053\u3068\u306f\u3001\u5c06\u6765\u306e\u6cbb\u7642\u9078\u629e\u80a2\u306b\u3064\u306a\u304c\u308b\u60c5\u5831\u3068\u3057\u3066\u610f\u5473\u3092\u6301\u3061\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"8_%E4%BA%88%E5%BE%8C%E3%81%A8%E5%AE%B6%E6%97%8F%E3%81%B8%E3%81%AE%E3%82%B5%E3%83%9D%E3%83%BC%E3%83%88\"><\/span><strong>8. \u4e88\u5f8c\u3068\u5bb6\u65cf\u3078\u306e\u30b5\u30dd\u30fc\u30c8<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u6cbb\u7642\u3092\u3057\u306a\u3051\u308c\u3070\u3001\u751f\u6daf\u306b\u308f\u305f\u308b\u91cd\u5ea6\u306e\u8996\u899a\u969c\u5bb3\u3092\u4f34\u3046\u3053\u3068\u304c\u4e00\u822c\u7684\u3067\u3059\u3002<\/strong>\u305f\u3060\u3057\u3001\u5909\u7570\u306e\u7a2e\u985e\u3084\u5408\u4f75\u75c7\u306e\u6709\u7121\u306b\u3088\u3063\u3066\u3001\u898b\u901a\u3057\u306b\u306f\u5e45\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u4e88\u5f8c\u306b\u5f71\u97ff\u3059\u308b\u4e3b\u306a\u8981\u56e0\u306f\u3001\u6b21\u306e\u3068\u304a\u308a\u3067\u3059\u3002\u30bf\u30f3\u30d1\u30af\u8cea\u306e\u6a5f\u80fd\u3092\u5b8c\u5168\u306b\u5931\u3046\u5909\u7570\u304c\u3042\u308b\u3068\u3088\u308a\u91cd\u304f\u306a\u308b\u50be\u5411\u3001\u6cbb\u7642\u4ecb\u5165\u304c\u3042\u308b\u3068\u3059\u308c\u3070\u65e9\u671f\u3067\u3042\u308b\u307b\u3069\u52b9\u679c\u304c\u671f\u5f85\u3057\u3084\u3059\u3044\u50be\u5411\u3001\u30b8\u30e5\u30d9\u30fc\u30eb\u75c7\u5019\u7fa4\u306a\u3069\u5168\u8eab\u75c7\u72b6\u3092\u4f34\u3046\u5834\u5408\u306f\u591a\u79d1\u3067\u306e\u30b1\u30a2\u304c\u5fc5\u8981\u306b\u306a\u308b\u70b9\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u4e2d\u5fc3\u7aa9\u306e\u69cb\u9020\u304c\u9577\u671f\u9593\u4fdd\u305f\u308c\u308b\u30b1\u30fc\u30b9\u304c\u3042\u308b\u3053\u3068\u306f\u3001\u5148\u8ff0\u306e\u3068\u304a\u308a\u5c06\u6765\u7684\u306a\u6cbb\u7642\u306e\u53ef\u80fd\u6027\u3092\u6b8b\u3059\u624b\u304c\u304b\u308a\u3067\u3059\u3002\u5b9a\u671f\u7684\u306a\u773c\u79d1\u53d7\u8a3a\u3068\u3001\u814e\u6a5f\u80fd\u3084\u795e\u7d4c\u767a\u9054\u306e\u7d4c\u904e\u89b3\u5bdf\u3092\u7d44\u307f\u5408\u308f\u305b\u308b\u3053\u3068\u304c\u671b\u307e\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u5e0c\u5c11\u75be\u60a3\u3067\u3042\u308bLCA10\u306f\u3001\u8eab\u8fd1\u306b\u540c\u3058\u7d4c\u9a13\u3092\u3057\u305f\u4eba\u304c\u898b\u3064\u304b\u308a\u306b\u304f\u304f\u3001\u3054\u5bb6\u65cf\u304c\u5b64\u7acb\u3092\u611f\u3058\u3084\u3059\u3044\u75c5\u6c17\u3067\u3059\u3002\u4e3b\u6cbb\u533b\u3084\u81e8\u5e8a\u907a\u4f1d\u5c02\u9580\u533b\u306b\u3088\u308b\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3067\u306f\u3001\u8a3a\u65ad\u306e\u610f\u5473\u3084\u6b21\u306e\u304a\u5b50\u69d8\u3078\u306e\u907a\u4f1d\u30ea\u30b9\u30af\u306b\u3064\u3044\u3066\u8aac\u660e\u3092\u53d7\u3051\u3089\u308c\u307e\u3059\u3002\u304a\u4f4f\u307e\u3044\u306e\u81ea\u6cbb\u4f53\u306e\u96e3\u75c5\u76f8\u8ac7\u652f\u63f4\u30bb\u30f3\u30bf\u30fc\u3082\u3001\u76f8\u8ac7\u5148\u306e\u4e00\u3064\u3067\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"9_%E5%A6%8A%E5%A8%A0%E4%B8%AD%E3%81%AE%E6%A4%9C%E6%9F%BB%E3%83%BBNIPT%E3%81%A8%E3%81%AE%E9%96%A2%E4%BF%82\"><\/span><strong>9. \u598a\u5a20\u4e2d\u306e\u691c\u67fb\u30fbNIPT\u3068\u306e\u95a2\u4fc2<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>CEP290\u95a2\u9023LCA10\u306f\u30011\u3064\u306e\u907a\u4f1d\u5b50\u306e\u5909\u5316\u306b\u3088\u3063\u3066\u8d77\u3053\u308b\u5358\u4e00\u907a\u4f1d\u5b50\u75be\u60a3\u3067\u3059\u3002<\/strong>NIPT\u306e\u57fa\u672c\u691c\u67fb\u304c\u5bfe\u8c61\u3068\u3059\u308b21\u30fb18\u30fb<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/patau-syndrome\/\">13\u30c8\u30ea\u30bd\u30df\u30fc<\/a>\u306a\u3069\u3001\u67d3\u8272\u4f53\u306e\u6570\u306e\u7570\u5e38\u3068\u306f\u691c\u51fa\u306e\u3057\u304f\u307f\u304c\u307e\u3063\u305f\u304f\u7570\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u5358\u4e00\u907a\u4f1d\u5b50\u75be\u60a3\u307e\u3067\u5bfe\u8c61\u7bc4\u56f2\u3092\u5e83\u3052\u305f\u62e1\u5927NIPT\u306e\u30d7\u30e9\u30f3\u3082\u3042\u308a\u307e\u3059\u3002\u30d7\u30e9\u30f3\u306b\u3088\u3063\u3066\u306f\u3001CEP290\u3092\u542b\u3080200\u7a2e\u985e\u4ee5\u4e0a\u306e\u907a\u4f1d\u5b50\u3092\u5bfe\u8c61\u3068\u3059\u308b\u691c\u67fb\u9805\u76ee\u304c\u7528\u610f\u3055\u308c\u3066\u3044\u308b\u5834\u5408\u3082\u3042\u308a\u307e\u3059\u3002\u305f\u3060\u3057\u5bfe\u5fdc\u3059\u308b\u75be\u60a3\u306e\u7bc4\u56f2\u3084\u89e3\u6790\u611f\u5ea6\u306f\u3001\u691c\u67fb\u65bd\u8a2d\u30fb\u30d7\u30e9\u30f3\u306b\u3088\u3063\u3066\u7570\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>\u691c\u8a0e\u3057\u3066\u3044\u308b\u691c\u67fb\u30d7\u30e9\u30f3\u304cCEP290\u95a2\u9023\u306e\u7570\u5e38\u307e\u3067\u5bfe\u8c61\u306b\u542b\u3080\u304b\u3069\u3046\u304b\u306f\u3001\u691c\u67fb\u3092\u53d7\u3051\u308b\u65bd\u8a2d\u306b\u76f4\u63a5\u78ba\u8a8d\u3057\u3066\u304f\u3060\u3055\u3044\u3002<\/strong>NIPT\u306f\u3042\u304f\u307e\u3067\u975e\u78ba\u5b9a\u7684\u306a\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u691c\u67fb\u3067\u3042\u308a\u3001\u6c17\u306b\u306a\u308b\u6240\u898b\u304c\u51fa\u305f\u5834\u5408\u306f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/about-clinic\/amniocentesis\/\">\u7f8a\u6c34\u691c\u67fb<\/a>\u306a\u3069\u306e\u78ba\u5b9a\u691c\u67fb\u3067\u8a3a\u65ad\u3092\u56fa\u3081\u308b\u6d41\u308c\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3054\u592b\u5a66\u304c\u3059\u3067\u306bCEP290\u306e\u4fdd\u56e0\u8005\u3068\u5224\u660e\u3057\u3066\u3044\u308b\u5834\u5408\u306f\u3001\u5225\u306e\u9078\u629e\u80a2\u3082\u3042\u308a\u307e\u3059\u3002<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/about-clinic\/amniocentesis\/\">\u7f8a\u6c34\u691c\u67fb<\/a>\u306b\u3088\u308b<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/amniocentesis-microarray\/\">\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4<\/a>\u30fb\u907a\u4f1d\u5b50\u89e3\u6790\u3067\u3001\u304a\u8179\u306e\u8d64\u3061\u3083\u3093\u306e\u72b6\u614b\u3092\u78ba\u5b9a\u7684\u306b\u8abf\u3079\u308b\u65b9\u6cd5\u3067\u3059\u3002\u6f5c\u6027\u907a\u4f1d\u306e\u57fa\u672c\u7684\u306a\u4ed5\u7d44\u307f\u306b\u3064\u3044\u3066\u306f\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/autosomal-recessive-genetics-support\/\">\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d\u3068\u306f<\/a>\u306e\u8a18\u4e8b\u3067\u8a73\u3057\u304f\u89e3\u8aac\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u4eca\u56de\u3001\u3053\u306e\u75c5\u6c17\u306b\u95a2\u3059\u308b\u56fd\u5185\u306e\u5b9f\u4f53\u9a13\u306e\u6295\u7a3f\u3092X(\u65e7Twitter)\u3067\u63a2\u3057\u307e\u3057\u305f\u304c\u3001\u76f4\u8fd17\u65e5\u9593\u3067\u306f\u533b\u7642\u5f53\u4e8b\u8005\u306b\u3088\u308b\u8a72\u5f53\u306e\u6295\u7a3f\u304c\u898b\u5f53\u305f\u308a\u307e\u305b\u3093\u3067\u3057\u305f\u3002\u30ec\u30fc\u30d0\u30fc\u5148\u5929\u9ed2\u5185\u969c\u30fbLCA10\u30fbCEP290\u3068\u3044\u3063\u305f\u8a00\u8449\u3067\u691c\u7d22\u3057\u3066\u3082\u3001\u75c7\u4f8b\u6570\u306e\u5c11\u306a\u3055\u304b\u3089\u4e00\u6b21\u60c5\u5831\u306f\u3055\u3089\u306b\u9650\u3089\u308c\u307e\u3059\u3002\u672c\u8a18\u4e8b\u3067\u306f\u4ee3\u308f\u308a\u306b\u516c\u7684\u30fb\u5b66\u8853\u60c5\u5831\u6e90\u3092\u6839\u62e0\u3068\u3057\u3066\u3044\u307e\u3059\u3002\u7c73\u56fd\u56fd\u7acb\u533b\u5b66\u56f3\u66f8\u9928\u306eGeneReviews\u3001New England Journal of Medicine\u8a8c\u3001ProQR\u793e\u304a\u3088\u3073Editas Medicine\u793e\u306e\u516c\u958b\u60c5\u5831\u3001\u65e5\u672c\u306e\u96e3\u75c5\u60c5\u5831\u30bb\u30f3\u30bf\u30fc\u3067\u3059\u3002<\/p>\n\n\n\n<div class=\"wp-block-buttons is-content-justification-center is-layout-flex wp-container-core-buttons-is-layout-16018d1d wp-block-buttons-is-layout-flex\">\n<div class=\"wp-block-button\"><a class=\"wp-block-button__link wp-element-button\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/plan-finder\/\" target=\"_blank\" rel=\"noopener\">\u30d7\u30e9\u30f3\u8a3a\u65ad\u3067\u81ea\u5206\u306b\u5408\u3046\u691c\u67fb\u3092\u63a2\u3059<\/a><\/div>\n<\/div>\n\n\n\n<p>NIPT\u3067\u598a\u5a20\u521d\u671f\u306b\u308f\u304b\u308b\u3053\u3068\u306e\u7bc4\u56f2\u306f\u9650\u3089\u308c\u3066\u3044\u307e\u3059\u3002<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt-detectable-conditions\/\">NIPT\u3067\u898b\u3064\u304b\u308b\u53ef\u80fd\u6027\u306e\u3042\u308b\u969c\u5bb3\u3068\u306f<\/a>\u306e\u8a18\u4e8b\u3067\u3001\u691c\u67fb\u3067\u308f\u304b\u308b\u3053\u3068\u3068\u308f\u304b\u3089\u306a\u3044\u3053\u3068\u306e\u5168\u4f53\u50cf\u3092\u6574\u7406\u3057\u3066\u3044\u307e\u3059\u306e\u3067\u3001\u3042\u308f\u305b\u3066\u3054\u78ba\u8a8d\u304f\u3060\u3055\u3044\u3002<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/about-clinic\/amniocentesis\/\">\u7f8a\u6c34\u691c\u67fb<\/a>\u3067\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/amniocentesis-microarray\/\">\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4<\/a>\u89e3\u6790\u306b\u3064\u3044\u3066\u306f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/amniocentesis-microarray\/\">\u7f8a\u6c34\u691c\u67fb\u3068\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u67d3\u8272\u4f53\u691c\u67fb<\/a>\u306e\u8a18\u4e8b\u3082\u3054\u53c2\u7167\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%81%BE%E3%81%A8%E3%82%81_%E3%81%94%E5%AE%B6%E6%97%8F%E3%81%B8%E3%81%AE%E3%83%A1%E3%83%83%E3%82%BB%E3%83%BC%E3%82%B8\"><\/span><strong>\u307e\u3068\u3081:\u3054\u5bb6\u65cf\u3078\u306e\u30e1\u30c3\u30bb\u30fc\u30b8<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>CEP290\u95a2\u9023\u30ec\u30fc\u30d0\u30fc\u5148\u5929\u9ed2\u5185\u969c10\u578b(LCA10)\u306f\u3001\u9023\u7d50\u7dda\u6bdb\u306e\u50cd\u304d\u304c\u640d\u306a\u308f\u308c\u3001\u751f\u307e\u308c\u3064\u304d\u91cd\u3044\u8996\u899a\u969c\u5bb3\u304c\u73fe\u308c\u308b\u75be\u60a3\u3067\u3059\u3002LCA\u306e\u539f\u56e0\u907a\u4f1d\u5b50\u306e\u306a\u304b\u3067\u3082CEP290\u306f\u983b\u5ea6\u306e\u9ad8\u3044\u90e8\u985e\u306b\u5165\u308a\u3001\u6c7a\u3057\u3066\u60c5\u5831\u304c\u63a2\u305b\u306a\u3044\u75c5\u6c17\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u30b8\u30e5\u30d9\u30fc\u30eb\u75c7\u5019\u7fa4\u3084\u30d0\u30eb\u30c7\u30fc\u30fb\u30d3\u30fc\u30c9\u30eb\u75c7\u5019\u7fa4\u306a\u3069\u3001\u4ed6\u306e\u81d3\u5668\u306b\u3082\u5f71\u97ff\u304c\u53ca\u3076\u95a2\u9023\u75be\u60a3\u304c\u3042\u308b\u3053\u3068\u3082\u3001\u8a3a\u65ad\u6642\u306b\u77e5\u3063\u3066\u304a\u304d\u305f\u3044\u5927\u5207\u306a\u60c5\u5831\u3067\u3059\u3002\u539f\u56e0\u306e\u591a\u304f\u306f\u3001\u5065\u5eb7\u306a\u4e21\u89aa\u304c\u305d\u308c\u305e\u308c\u6301\u3064\u6f5c\u6027\u306e\u5909\u7570\u304c\u91cd\u306a\u3063\u305f\u3053\u3068\u306b\u3088\u308b\u3082\u306e\u3067\u3001\u3054\u4e21\u89aa\u306e\u751f\u6d3b\u7fd2\u6163\u304c\u539f\u56e0\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u8996\u899a\u88dc\u52a9\u5177\u3084\u65e9\u671f\u7642\u80b2\u306b\u3088\u308b\u65e5\u3005\u306e\u30b5\u30dd\u30fc\u30c8\u306b\u52a0\u3048\u3001CRISPR\u907a\u4f1d\u5b50\u7de8\u96c6\u306a\u3069\u306e\u7814\u7a76\u3082\u9032\u3081\u3089\u308c\u3066\u3044\u307e\u3059\u3002\u5b9f\u7528\u5316\u306e\u6642\u671f\u306f\u672a\u5b9a\u3067\u3059\u304c\u3001\u307e\u305a\u306f\u4e3b\u6cbb\u533b\u3084\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30e9\u30fc\u3078\u306e\u76f8\u8ac7\u304b\u3089\u59cb\u3081\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<div class=\"wp-block-buttons is-content-justification-center is-layout-flex wp-container-core-buttons-is-layout-16018d1d wp-block-buttons-is-layout-flex\">\n<div class=\"wp-block-button\"><a class=\"wp-block-button__link wp-element-button\" href=\"https:\/\/mypage-nipt-reservation.hiro-clinic.or.jp\/registration\" target=\"_blank\" rel=\"noopener\">NIPT\u306e\u4e88\u7d04\u306f\u3053\u3061\u3089<\/a><\/div>\n\n\n\n<div class=\"wp-block-button is-style-outline is-style-outline--1\"><a class=\"wp-block-button__link wp-element-button\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/line-registration\/\" target=\"_blank\" rel=\"noopener\">LINE\u3067\u7121\u6599\u76f8\u8ac7\u3059\u308b<\/a><\/div>\n<\/div>\n\n\n\n<p>\u304a\u96fb\u8a71\u3067\u306e\u3054\u76f8\u8ac7\u3082\u53d7\u3051\u4ed8\u3051\u3066\u3044\u307e\u3059\u3002<a href=\"tel:0120169629\">0120-169-629<\/a>\u307e\u3067\u304a\u6c17\u8efd\u306b\u304a\u554f\u3044\u5408\u308f\u305b\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n<!--nipt_mono-->\r\n<div class=\"nipt-mono\">\r\n    <div class=\"nipt-mono-btn\">\r\n        <a href=\"\/nipt\/nipt-mono\/\">\r\n            <img decoding=\"async\" loading=\"lazy\" src=\"\/nipt\/wp-content\/uploads\/2026\/03\/NIPT-MONO.webp\" alt=\"NIPT-MONO\u3067\u8abf\u3079\u3089\u308c\u307e\u3059\">\r\n         <\/a>\r\n    <\/div>\r\n<\/div>\r\n\r\n<style>\r\n.nipt-mono {\r\n    text-align: center; \/* \u89aa\u8981\u7d20\u3067\u6a2a\u4e2d\u592e *\/\r\n}\r\n.nipt-mono a img {\r\n    display: inline-block; \/* \u753b\u50cf\u3092\u30a4\u30f3\u30e9\u30a4\u30f3\u30d6\u30ed\u30c3\u30af\u5316\u3057\u3066 text-align \u306b\u53cd\u6620 *\/\r\n    width: 333px;\r\n}\r\n<\/style>\r\n<!--\/nipt_mono-->\r\n\r\n\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%82%88%E3%81%8F%E3%81%82%E3%82%8B%E8%B3%AA%E5%95%8F\"><\/span><strong>\u3088\u304f\u3042\u308b\u8cea\u554f<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%83%AC%E3%83%BC%E3%83%90%E3%83%BC%E5%85%88%E5%A4%A9%E9%BB%92%E5%86%85%E9%9A%9C10%E5%9E%8BLCA10%E3%81%A8%E3%81%AF%E3%80%81%E3%81%A9%E3%81%AE%E3%82%88%E3%81%86%E3%81%AA%E7%97%85%E6%B0%97%E3%81%A7%E3%81%99%E3%81%8B%E3%80%82\"><\/span>\u30ec\u30fc\u30d0\u30fc\u5148\u5929\u9ed2\u5185\u969c10\u578b(LCA10)\u3068\u306f\u3001\u3069\u306e\u3088\u3046\u306a\u75c5\u6c17\u3067\u3059\u304b\u3002<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>CEP290\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u308a\u3001\u7db2\u819c\u306e\u5149\u53d7\u5bb9\u4f53\u7d30\u80de\u304c\u6b63\u5e38\u306b\u50cd\u304b\u305a\u3001\u751f\u307e\u308c\u3064\u304d\u91cd\u3044\u8996\u899a\u969c\u5bb3\u304c\u73fe\u308c\u308b\u5148\u5929\u6027\u306e\u75be\u60a3\u3067\u3059\u3002\u30ec\u30fc\u30d0\u30fc\u5148\u5929\u9ed2\u5185\u969c(LCA)\u306e\u539f\u56e0\u907a\u4f1d\u5b50\u306e\u4e2d\u3067\u3082CEP290\u306f\u983b\u5ea6\u306e\u9ad8\u3044\u90e8\u985e\u306b\u5165\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"CEP290%E9%81%BA%E4%BC%9D%E5%AD%90%E3%81%AE%E5%A4%89%E7%95%B0%E3%81%AF%E3%80%81%E4%BB%96%E3%81%AE%E5%8E%9F%E5%9B%A0%E9%81%BA%E4%BC%9D%E5%AD%90%E3%81%A8%E6%AF%94%E3%81%B9%E3%81%A6%E5%A4%9A%E3%81%84%E3%81%AE%E3%81%A7%E3%81%99%E3%81%8B%E3%80%82\"><\/span>CEP290\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306f\u3001\u4ed6\u306e\u539f\u56e0\u907a\u4f1d\u5b50\u3068\u6bd4\u3079\u3066\u591a\u3044\u306e\u3067\u3059\u304b\u3002<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>GeneReviews\u306b\u3088\u308b\u3068\u3001CEP290\u306fLCA\u5168\u4f53\u306e\u7d0415\u301c20%\u3092\u5360\u3081\u308b\u3068\u3055\u308c\u3001GUCY2D\u3084CRB1\u3068\u4e26\u3076\u983b\u5ea6\u306e\u9ad8\u3044\u539f\u56e0\u907a\u4f1d\u5b50\u3067\u3059\u3002\u6b27\u7c73\u3067\u306fc.2991+1655A&gt;G(IVS26)\u3068\u3044\u3046\u6df1\u90e8\u30a4\u30f3\u30c8\u30ed\u30f3\u5909\u7570\u304c\u7279\u306b\u591a\u304f\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%82%B8%E3%83%A5%E3%83%99%E3%83%BC%E3%83%AB%E7%97%87%E5%80%99%E7%BE%A4%E3%82%84%E3%83%90%E3%83%AB%E3%83%87%E3%83%BC%E3%83%BB%E3%83%93%E3%83%BC%E3%83%89%E3%83%AB%E7%97%87%E5%80%99%E7%BE%A4%E3%81%A8%E3%81%AF%E3%81%A9%E3%81%86%E9%81%95%E3%81%84%E3%81%BE%E3%81%99%E3%81%8B%E3%80%82\"><\/span>\u30b8\u30e5\u30d9\u30fc\u30eb\u75c7\u5019\u7fa4\u3084\u30d0\u30eb\u30c7\u30fc\u30fb\u30d3\u30fc\u30c9\u30eb\u75c7\u5019\u7fa4\u3068\u306f\u3069\u3046\u9055\u3044\u307e\u3059\u304b\u3002<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u3044\u305a\u308c\u3082CEP290\u907a\u4f1d\u5b50\u306e\u5909\u7570\u304c\u539f\u56e0\u306b\u306a\u308a\u5f97\u308b\u75be\u60a3\u7fa4\u3067\u3059\u3002\u5909\u7570\u306e\u4f4d\u7f6e\u3084\u7a2e\u985e\u306b\u3088\u308a\u3001\u7db2\u819c\u3060\u3051\u306b\u3068\u3069\u307e\u308b\u5834\u5408\u3082\u3042\u308c\u3070\u3001\u5c0f\u8133\u3084\u814e\u81d3\u306a\u3069\u5168\u8eab\u306b\u75c7\u72b6\u304c\u53ca\u3076\u5834\u5408\u3082\u3042\u308a\u307e\u3059\u3002\u8a3a\u65ad\u6642\u306b\u306f\u773c\u79d1\u4ee5\u5916\u306e\u8a55\u4fa1\u3082\u3042\u308f\u305b\u3066\u691c\u8a0e\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E9%81%BA%E4%BC%9D%E5%AD%90%E6%B2%BB%E7%99%82%E3%81%AF%E5%8F%97%E3%81%91%E3%82%89%E3%82%8C%E3%81%BE%E3%81%99%E3%81%8B%E3%80%82\"><\/span>\u907a\u4f1d\u5b50\u6cbb\u7642\u306f\u53d7\u3051\u3089\u308c\u307e\u3059\u304b\u3002<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>CEP290\u5909\u7570\u3092\u5bfe\u8c61\u3068\u3057\u305f\u627f\u8a8d\u6e08\u307f\u306e\u907a\u4f1d\u5b50\u6cbb\u7642\u306f\u307e\u3060\u3042\u308a\u307e\u305b\u3093\u3002CRISPR\u907a\u4f1d\u5b50\u7de8\u96c6(EDIT-101)\u306f\u5b89\u5168\u6027\u3068\u4e00\u90e8\u306e\u6a5f\u80fd\u6539\u5584\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u304c\u3001\u958b\u767a\u5143\u306f\u5358\u72ec\u3067\u306e\u958b\u767a\u7d99\u7d9a\u3092\u898b\u9001\u308a\u63d0\u643a\u5148\u3092\u63a2\u3057\u3066\u3044\u308b\u6bb5\u968e\u3067\u3059\u3002\u30a2\u30f3\u30c1\u30bb\u30f3\u30b9\u85ac\u306e\u30bb\u30dd\u30d5\u30a1\u30fc\u30bb\u30f3\u306f\u4e3b\u8981\u8a55\u4fa1\u9805\u76ee\u3092\u9054\u6210\u3067\u304d\u305a\u3001\u958b\u767a\u304c\u7e2e\u5c0f\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"RPE65%E3%81%AE%E9%81%BA%E4%BC%9D%E5%AD%90%E6%B2%BB%E7%99%82voretigene_neparvovec%E3%81%AF%E4%BD%BF%E3%81%88%E3%81%BE%E3%81%99%E3%81%8B%E3%80%82\"><\/span>RPE65\u306e\u907a\u4f1d\u5b50\u6cbb\u7642(voretigene neparvovec)\u306f\u4f7f\u3048\u307e\u3059\u304b\u3002<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u4f7f\u7528\u3067\u304d\u307e\u305b\u3093\u3002voretigene neparvovec\u306fRPE65\u3068\u3044\u3046\u5225\u306e\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u308bLCA\u5411\u3051\u306b\u627f\u8a8d\u3055\u308c\u305f\u6cbb\u7642\u3067\u3001CEP290\u5909\u7570\u4f8b\u306f\u5bfe\u8c61\u5916\u3067\u3059\u3002\u539f\u56e0\u907a\u4f1d\u5b50\u306b\u3088\u3063\u3066\u4f7f\u3048\u308b\u6cbb\u7642\u304c\u7570\u306a\u308b\u70b9\u306b\u3054\u6ce8\u610f\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%AC%A1%E3%81%AE%E5%AD%90%E3%81%A9%E3%82%82%E3%81%AB%E3%82%82%E5%90%8C%E3%81%98%E7%97%85%E6%B0%97%E3%81%8C%E8%B5%B7%E3%81%93%E3%82%8B%E5%8F%AF%E8%83%BD%E6%80%A7%E3%81%AF%E3%81%82%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B%E3%80%82\"><\/span>\u6b21\u306e\u5b50\u3069\u3082\u306b\u3082\u540c\u3058\u75c5\u6c17\u304c\u8d77\u3053\u308b\u53ef\u80fd\u6027\u306f\u3042\u308a\u307e\u3059\u304b\u3002<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u4e21\u89aa\u304c\u3068\u3082\u306b\u4fdd\u56e0\u8005\u306e\u5834\u5408\u3001\u6b21\u306e\u304a\u5b50\u69d8\u304c\u767a\u75c7\u3059\u308b\u78ba\u7387\u306f25%\u3067\u3059\u3002\u6b63\u78ba\u306a\u518d\u767a\u30ea\u30b9\u30af\u306f\u3001\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3067\u500b\u5225\u306b\u78ba\u8a8d\u3057\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%A6%8A%E5%A8%A0%E4%B8%AD%E3%81%AENIPT%E3%81%A7%E3%81%93%E3%81%AE%E7%97%85%E6%B0%97%E3%81%AF%E3%82%8F%E3%81%8B%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B%E3%80%82\"><\/span>\u598a\u5a20\u4e2d\u306eNIPT\u3067\u3053\u306e\u75c5\u6c17\u306f\u308f\u304b\u308a\u307e\u3059\u304b\u3002<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>21\u30fb18\u30fb<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/patau-syndrome\/\">13\u30c8\u30ea\u30bd\u30df\u30fc<\/a>\u306a\u3069\u306e\u57fa\u672c\u691c\u67fb\u306e\u5bfe\u8c61\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u5358\u4e00\u907a\u4f1d\u5b50\u75be\u60a3\u307e\u3067\u5bfe\u8c61\u3092\u5e83\u3052\u305f\u62e1\u5927NIPT\u306e\u30d7\u30e9\u30f3\u3067\u306f\u5bfe\u8c61\u306b\u542b\u307e\u308c\u308b\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u5bfe\u5fdc\u7bc4\u56f2\u306f\u65bd\u8a2d\u306b\u3088\u3063\u3066\u7570\u306a\u308a\u307e\u3059\u3002\u6240\u898b\u304c\u51fa\u305f\u5834\u5408\u306f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/about-clinic\/amniocentesis\/\">\u7f8a\u6c34\u691c\u67fb<\/a>\u306a\u3069\u306e\u78ba\u5b9a\u691c\u67fb\u304c\u5fc5\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<p style=\"font-size:0.9em;color:#555;\"><strong>\u76e3\u4fee:\u5ca1 \u535a\u53f2(\u304a\u304b \u3072\u308d\u3057)<\/strong>\/\u533b\u7642\u6cd5\u4eba\u793e\u56e3\u798f\u7f8e\u4f1a \u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af\u7d71\u62ec\u9662\u9577\u30fbLabo 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Overview\uff5cGeneReviews(\u7c73\u56fd\u56fd\u7acb\u533b\u5b66\u56f3\u66f8\u9928)<\/a>\/<a href=\"https:\/\/pmc.ncbi.nlm.nih.gov\/articles\/PMC11389875\/\" target=\"_blank\" rel=\"noopener\">Gene Editing for CEP290-Associated Retinal Degeneration\uff5cNew England Journal of Medicine(Pierce et al 2024)<\/a>\/<a href=\"https:\/\/www.proqr.com\/press-releases\/proqr-announces-top-line-results-from-phase-23-illuminate-trial-of-sepofarsen-in-cep290-mediated-lca10\" target=\"_blank\" rel=\"noopener\">Top-Line Results from Phase 2\/3 Illuminate Trial of Sepofarsen\uff5cProQR Therapeutics<\/a>\/<a href=\"https:\/\/hopeinfocus.org\/editas-medicines-edit-101-clinical-trial-update-brings-mixed-news-on-lca10-cep290-research\/\" target=\"_blank\" rel=\"noopener\">Editas Medicine&#8217;s EDIT-101 Clinical Trial Update\uff5cHope in Focus<\/a>\/<a href=\"https:\/\/www.nanbyou.or.jp\/entry\/196\" target=\"_blank\" 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