{"id":122792,"date":"2026-01-15T09:56:42","date_gmt":"2026-01-15T00:56:42","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?p=122792"},"modified":"2026-03-27T16:31:38","modified_gmt":"2026-03-27T07:31:38","slug":"cardiofaciocutaneous-syndrome-2-map2k1-guide","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/cardiofaciocutaneous-syndrome-2-map2k1-guide\/","title":{"rendered":"Cardiofaciocutaneous Syndrome 2"},"content":{"rendered":"\n<p>\u533b\u5b66\u304c\u30b2\u30ce\u30e0\u89e3\u6790\u306e\u6642\u4ee3\u3078\u3068\u7a81\u5165\u3057\u305f\u3053\u3068\u3067\u3001\u79c1\u305f\u3061\u306f\u75be\u60a3\u3092\u5358\u306a\u308b\u300c\u75c7\u72b6\u306e\u96c6\u307e\u308a\u300d\u3068\u3057\u3066\u3067\u306f\u306a\u304f\u3001\u300c\u5206\u5b50\u30ec\u30d9\u30eb\u306e\u7570\u5e38\u300d\u3068\u3057\u3066\u7406\u89e3\u3067\u304d\u308b\u3088\u3046\u306b\u306a\u308a\u307e\u3057\u305f\u3002\u305d\u306e\u6700\u524d\u7dda\u306b\u3042\u308b\u306e\u304c\u3001\u7d30\u80de\u306e\u5897\u6b96\u30fb\u5206\u5316\u3092\u5236\u5fa1\u3059\u308bRAS\/MAPK\u30b7\u30b0\u30ca\u30eb\u4f1d\u9054\u7d4c\u8def\u306e\u7570\u5e38\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u308b\u300cRAS\u30d1\u30b7\u30fc\uff08RASopathies\uff09\u300d\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u4eca\u56de\u89e3\u8aac\u3059\u308b<strong>Cardiofaciocutaneous Syndrome 2\uff08\u5fc3\u81d3\u30fb\u9854\u30fb\u76ae\u819a\u75c7\u5019\u7fa42\u3001\u4ee5\u4e0bCFC2\uff09\u306f\u3001CFC\u75c7\u5019\u7fa4\u306e\u4e2d\u3067\u3082\u3001\u7279\u306bMAP2K1\uff08MEK1\uff09\u907a\u4f1d\u5b50<\/strong>\u306e\u5909\u7570\u306b\u8d77\u56e0\u3059\u308b\u7279\u5b9a\u306e\u75c5\u578b\u3092\u6307\u3057\u307e\u3059\u3002CFC\u75c7\u5019\u7fa4\u5168\u4f53\u3067\u898b\u308c\u3070\u7a00\u306a\u30bf\u30a4\u30d7\u3067\u3059\u304c\u3001\u305d\u306e\u81e8\u5e8a\u50cf\u306f\u91cd\u7be4\u304b\u3064\u591a\u5c90\u306b\u308f\u305f\u308a\u3001\u5fc3\u8840\u7ba1\u3001\u76ae\u819a\u3001\u795e\u7d4c\u767a\u9054\u306e\u5404\u9818\u57df\u3067\u5c02\u9580\u7684\u306a\u4ecb\u5165\u3092\u5fc5\u8981\u3068\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u672c\u8a18\u4e8b\u3067\u306f\u3001CFC2\u306e\u5206\u5b50\u75c5\u614b\u5b66\u7684\u80cc\u666f\u304b\u3089\u3001\u8a3a\u65ad\u57fa\u6e96\u3001\u6700\u65b0\u306e\u7ba1\u7406\u6226\u7565\u306b\u81f3\u308b\u307e\u3067\u3001\u5c02\u9580\u5bb6\u3084\u30b1\u30a2\u306b\u643a\u308f\u308b\u65b9\u3005\u306e\u305f\u3081\u306b\u8a73\u7d30\u306b\u89e3\u8aac\u3057\u307e\u3059\u3002<\/p>\n\n\n<!--nipt_mono-->\r\n<div 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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\/cardiofaciocutaneous-syndrome-2-map2k1-guide\/#1_%E5%88%86%E5%AD%90%E9%81%BA%E4%BC%9D%E5%AD%A6%E7%9A%84%E8%83%8C%E6%99%AF%EF%BC%9AMAP2K1%E5%A4%89%E7%95%B0%E3%81%A8%E3%82%B7%E3%82%B0%E3%83%8A%E3%83%AB%E6%9A%B4%E8%B5%B0%E3%81%AE%E3%83%A1%E3%82%AB%E3%83%8B%E3%82%BA%E3%83%A0\" >1. \u5206\u5b50\u907a\u4f1d\u5b66\u7684\u80cc\u666f\uff1aMAP2K1\u5909\u7570\u3068\u30b7\u30b0\u30ca\u30eb\u66b4\u8d70\u306e\u30e1\u30ab\u30cb\u30ba\u30e0<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-2\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/cardiofaciocutaneous-syndrome-2-map2k1-guide\/#MAP2K1_MEK1_%E3%81%AE%E5%BD%B9%E5%89%B2\" >MAP2K1 (MEK1) \u306e\u5f79\u5272<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-3\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/cardiofaciocutaneous-syndrome-2-map2k1-guide\/#%E6%A9%9F%E8%83%BD%E7%8D%B2%E5%BE%97%E5%9E%8B%E5%A4%89%E7%95%B0%EF%BC%88Gain-of-Function%EF%BC%89\" >\u6a5f\u80fd\u7372\u5f97\u578b\u5909\u7570\uff08Gain-of-Function\uff09<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-4\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/cardiofaciocutaneous-syndrome-2-map2k1-guide\/#%E9%81%BA%E4%BC%9D%E5%BD%A2%E5%BC%8F%E3%81%A8%E5%A4%89%E7%95%B0%E3%81%AE%E7%89%B9%E6%80%A7\" >\u907a\u4f1d\u5f62\u5f0f\u3068\u5909\u7570\u306e\u7279\u6027<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-5\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/cardiofaciocutaneous-syndrome-2-map2k1-guide\/#2_%E8%87%A8%E5%BA%8A%E7%9A%84%E7%89%B9%E5%BE%B4%EF%BC%9A%E5%A4%9A%E7%B3%BB%E7%B5%B1%E3%81%AB%E5%8F%8A%E3%81%B6%E3%83%95%E3%82%A7%E3%83%8E%E3%82%BF%E3%82%A4%E3%83%97%E3%81%AE%E8%A7%A3%E6%9E%90\" >2. \u81e8\u5e8a\u7684\u7279\u5fb4\uff1a\u591a\u7cfb\u7d71\u306b\u53ca\u3076\u30d5\u30a7\u30ce\u30bf\u30a4\u30d7\u306e\u89e3\u6790<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-6\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/cardiofaciocutaneous-syndrome-2-map2k1-guide\/#%E5%BF%83%E8%A1%80%E7%AE%A1%E7%B3%BB%E3%81%AE%E7%95%B0%E5%B8%B8%EF%BC%88Cardiac%EF%BC%89\" >\u5fc3\u8840\u7ba1\u7cfb\u306e\u7570\u5e38\uff08Cardiac\uff09<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-7\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/cardiofaciocutaneous-syndrome-2-map2k1-guide\/#%E7%89%B9%E5%BE%B4%E7%9A%84%E3%81%AA%E9%A1%94%E8%B2%8C%EF%BC%88Facial%EF%BC%89\" >\u7279\u5fb4\u7684\u306a\u9854\u8c8c\uff08Facial\uff09<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-8\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/cardiofaciocutaneous-syndrome-2-map2k1-guide\/#%E7%9A%AE%E8%86%9A%E3%83%BB%E8%A2%AB%E6%AF%9B%E3%81%AE%E7%95%B0%E5%B8%B8%EF%BC%88Cutaneous%EF%BC%89\" >\u76ae\u819a\u30fb\u88ab\u6bdb\u306e\u7570\u5e38\uff08Cutaneous\uff09<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-9\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/cardiofaciocutaneous-syndrome-2-map2k1-guide\/#%E7%A5%9E%E7%B5%8C%E7%99%BA%E9%81%94%E3%81%A8%E9%9A%8F%E4%BC%B4%E7%97%87%E7%8A%B6\" >\u795e\u7d4c\u767a\u9054\u3068\u968f\u4f34\u75c7\u72b6<\/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\/cardiofaciocutaneous-syndrome-2-map2k1-guide\/#3_%E8%A8%BA%E6%96%AD%E3%81%A8%E9%91%91%E5%88%A5%EF%BC%9A%E8%87%A8%E5%BA%8A%E7%9A%84%E7%96%91%E3%81%84%E3%81%8B%E3%82%89%E5%88%86%E5%AD%90%E8%A8%BA%E6%96%AD%E3%81%B8\" >3. \u8a3a\u65ad\u3068\u9451\u5225\uff1a\u81e8\u5e8a\u7684\u7591\u3044\u304b\u3089\u5206\u5b50\u8a3a\u65ad\u3078<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-11\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/cardiofaciocutaneous-syndrome-2-map2k1-guide\/#%E8%87%A8%E5%BA%8A%E8%A8%BA%E6%96%AD%E5%9F%BA%E6%BA%96\" >\u81e8\u5e8a\u8a3a\u65ad\u57fa\u6e96<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-12\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/cardiofaciocutaneous-syndrome-2-map2k1-guide\/#%E9%81%BA%E4%BC%9D%E5%AD%90%E3%83%91%E3%83%8D%E3%83%AB%E6%A4%9C%E6%9F%BB\" >\u907a\u4f1d\u5b50\u30d1\u30cd\u30eb\u691c\u67fb<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-13\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/cardiofaciocutaneous-syndrome-2-map2k1-guide\/#4_%E7%AE%A1%E7%90%86%E3%81%A8%E6%B2%BB%E7%99%82%E6%88%A6%E7%95%A5%EF%BC%9A%E5%8C%85%E6%8B%AC%E7%9A%84%E3%81%AA%E3%83%81%E3%83%BC%E3%83%A0%E5%8C%BB%E7%99%82%E3%81%AE%E5%AE%9F%E8%B7%B5\" >4. \u7ba1\u7406\u3068\u6cbb\u7642\u6226\u7565\uff1a\u5305\u62ec\u7684\u306a\u30c1\u30fc\u30e0\u533b\u7642\u306e\u5b9f\u8df5<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-14\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/cardiofaciocutaneous-syndrome-2-map2k1-guide\/#%E5%BE%AA%E7%92%B0%E5%99%A8%E7%AE%A1%E7%90%86\" >\u5faa\u74b0\u5668\u7ba1\u7406<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-15\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/cardiofaciocutaneous-syndrome-2-map2k1-guide\/#%E7%9A%AE%E8%86%9A%E7%A7%91%E7%9A%84%E7%AE%A1%E7%90%86\" >\u76ae\u819a\u79d1\u7684\u7ba1\u7406<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-16\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/cardiofaciocutaneous-syndrome-2-map2k1-guide\/#%E7%A5%9E%E7%B5%8C%E7%99%BA%E9%81%94%E3%83%BB%E7%99%82%E8%82%B2%E6%94%AF%E6%8F%B4\" >\u795e\u7d4c\u767a\u9054\u30fb\u7642\u80b2\u652f\u63f4<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-17\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/cardiofaciocutaneous-syndrome-2-map2k1-guide\/#5_%E6%9C%80%E6%96%B0%E3%81%AE%E7%A0%94%E7%A9%B6%E5%8B%95%E5%90%91%EF%BC%9AMEK%E9%98%BB%E5%AE%B3%E8%96%AC%E3%81%AE%E5%8F%AF%E8%83%BD%E6%80%A7\" >5. \u6700\u65b0\u306e\u7814\u7a76\u52d5\u5411\uff1aMEK\u963b\u5bb3\u85ac\u306e\u53ef\u80fd\u6027<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-18\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/cardiofaciocutaneous-syndrome-2-map2k1-guide\/#%E5%88%86%E5%AD%90%E6%A8%99%E7%9A%84%E7%99%82%E6%B3%95%E3%81%AE%E5%B1%95%E6%9C%9B\" >\u5206\u5b50\u6a19\u7684\u7642\u6cd5\u306e\u5c55\u671b<\/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\/cardiofaciocutaneous-syndrome-2-map2k1-guide\/#%E7%B5%90%E8%AB%96%EF%BC%9A%E7%90%86%E8%A7%A3%E3%81%AE%E6%B7%B1%E5%8C%96%E3%81%8C%E6%82%A3%E8%80%85%E3%81%AE%E6%9C%AA%E6%9D%A5%E3%82%92%E6%94%AF%E3%81%88%E3%82%8B\" >\u7d50\u8ad6\uff1a\u7406\u89e3\u306e\u6df1\u5316\u304c\u60a3\u8005\u306e\u672a\u6765\u3092\u652f\u3048\u308b<\/a><\/li><\/ul><\/nav><\/div>\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"1_%E5%88%86%E5%AD%90%E9%81%BA%E4%BC%9D%E5%AD%A6%E7%9A%84%E8%83%8C%E6%99%AF%EF%BC%9AMAP2K1%E5%A4%89%E7%95%B0%E3%81%A8%E3%82%B7%E3%82%B0%E3%83%8A%E3%83%AB%E6%9A%B4%E8%B5%B0%E3%81%AE%E3%83%A1%E3%82%AB%E3%83%8B%E3%82%BA%E3%83%A0\"><\/span><strong>1. \u5206\u5b50\u907a\u4f1d\u5b66\u7684\u80cc\u666f\uff1aMAP2K1\u5909\u7570\u3068\u30b7\u30b0\u30ca\u30eb\u66b4\u8d70\u306e\u30e1\u30ab\u30cb\u30ba\u30e0<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>CFC\u75c7\u5019\u7fa4\u306f\u3001\u5909\u7570\u3057\u305f\u907a\u4f1d\u5b50\u306b\u3088\u3063\u3066\u30bf\u30a4\u30d71\u304b\u30894\u306b\u5206\u985e\u3055\u308c\u307e\u3059\u304c\u3001<strong>CFC2\u306fMAP2K1\u907a\u4f1d\u5b50\u306e\u30d8\u30c6\u30ed\u63a5\u5408\u578b\u5909\u7570<\/strong>\u306b\u3088\u3063\u3066\u5b9a\u7fa9\u3055\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"MAP2K1_MEK1_%E3%81%AE%E5%BD%B9%E5%89%B2\"><\/span><strong>MAP2K1 (MEK1) \u306e\u5f79\u5272<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>MAP2K1\u306f\u3001\u7d30\u80de\u5916\u304b\u3089\u306e\u523a\u6fc0\u3092\u6838\u3078\u3068\u4f1d\u3048\u308b\u300c\u30ea\u30ec\u30fc\u300d\u306e\u5f79\u5272\u3092\u679c\u305f\u3059RAS\/MAPK\u7d4c\u8def\u306e\u4e2d\u6838\u3092\u62c5\u3046\u9175\u7d20\uff08\u30ad\u30ca\u30fc\u30bc\uff09\u3067\u3059\u3002\u901a\u5e38\u3001\u3053\u306e\u30ea\u30ec\u30fc\u306f\u7dfb\u5bc6\u306b\u5236\u5fa1\u3055\u308c\u3066\u304a\u308a\u3001\u5fc5\u8981\u306a\u6642\u306b\u3060\u3051\u300cON\u300d\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%A9%9F%E8%83%BD%E7%8D%B2%E5%BE%97%E5%9E%8B%E5%A4%89%E7%95%B0%EF%BC%88Gain-of-Function%EF%BC%89\"><\/span><strong>\u6a5f\u80fd\u7372\u5f97\u578b\u5909\u7570\uff08Gain-of-Function\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>CFC2\u3092\u5f15\u304d\u8d77\u3053\u3059MAP2K1\u306e\u5909\u7570\u306f\u3001\u3059\u3079\u3066\u300c\u6a5f\u80fd\u7372\u5f97\u578b\u300d\u3067\u3059\u3002\u3064\u307e\u308a\u3001\u672c\u6765\u306a\u3089OFF\u3067\u3042\u308b\u3079\u304d\u6642\u3067\u3082\u30b9\u30a4\u30c3\u30c1\u304c\u5e38\u306b\u5165\u3063\u305f\u72b6\u614b\u3001\u3042\u308b\u3044\u306f\u904e\u5270\u306b\u53cd\u5fdc\u3057\u3084\u3059\u3044\u72b6\u614b\u306b\u306a\u3063\u3066\u3044\u307e\u3059\u3002 \u3053\u306e\u300c\u30b7\u30b0\u30ca\u30eb\u306e\u66b4\u8d70\u300d\u304c\u3001\u80ce\u5150\u671f\u306e\u81d3\u5668\u5f62\u6210\u3092\u963b\u5bb3\u3057\u3001\u51fa\u751f\u5f8c\u306e\u6210\u9577\u3084\u4ee3\u8b1d\u3001\u795e\u7d4c\u56de\u8def\u306e\u69cb\u7bc9\u306b\u591a\u5927\u306a\u60aa\u5f71\u97ff\u3092\u53ca\u307c\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%BD%A2%E5%BC%8F%E3%81%A8%E5%A4%89%E7%95%B0%E3%81%AE%E7%89%B9%E6%80%A7\"><\/span><strong>\u907a\u4f1d\u5f62\u5f0f\u3068\u5909\u7570\u306e\u7279\u6027<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>CFC2\u306e\u307b\u3068\u3093\u3069\u306fde novo\uff08\u7a81\u7136\u5909\u7570\uff09\u3067\u3042\u308a\u3001\u4e21\u89aa\u304b\u3089\u306e\u907a\u4f1d\u3067\u306f\u306a\u304f\u3001\u53d7\u7cbe\u5375\u306e\u6bb5\u968e\u3067\u767a\u751f\u3057\u307e\u3059\u3002CFC\u75c7\u5019\u7fa4\u5168\u4f53\u306e\u7d0475%\u3092\u5360\u3081\u308b\u306e\u306fBRAF\u907a\u4f1d\u5b50\u5909\u7570\uff08CFC1\uff09\u3067\u3059\u304c\u3001MAP2K1\u5909\u7570\u306b\u3088\u308bCFC2\u306f\u7d0410\u301c15%\u7a0b\u5ea6\u3068\u5831\u544a\u3055\u308c\u3066\u304a\u308a\u3001\u30bf\u30a4\u30d71\u3068\u6bd4\u8f03\u3057\u3066\u7279\u5b9a\u306e\u81e8\u5e8a\u7684\u5dee\u7570\u304c\u3042\u308b\u304b\u3069\u3046\u304b\u304c\u3001\u8fd1\u5e74\u306e\u81e8\u5e8a\u7814\u7a76\u306e\u7126\u70b9\u3068\u306a\u3063\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"2_%E8%87%A8%E5%BA%8A%E7%9A%84%E7%89%B9%E5%BE%B4%EF%BC%9A%E5%A4%9A%E7%B3%BB%E7%B5%B1%E3%81%AB%E5%8F%8A%E3%81%B6%E3%83%95%E3%82%A7%E3%83%8E%E3%82%BF%E3%82%A4%E3%83%97%E3%81%AE%E8%A7%A3%E6%9E%90\"><\/span><strong>2. \u81e8\u5e8a\u7684\u7279\u5fb4\uff1a\u591a\u7cfb\u7d71\u306b\u53ca\u3076\u30d5\u30a7\u30ce\u30bf\u30a4\u30d7\u306e\u89e3\u6790<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>CFC2\u306e\u75c7\u72b6\u306f\u3001\u75be\u60a3\u540d\u304c\u793a\u3059\u901a\u308a\u300c\u5fc3\u81d3\uff08Cardio\uff09\u300d\u300c\u9854\u8c8c\uff08Facio\uff09\u300d\u300c\u76ae\u819a\uff08Cutaneous\uff09\u300d\u306e3\u9818\u57df\u306b\u96c6\u4e2d\u3057\u307e\u3059\u304c\u3001\u305d\u308c\u306b\u52a0\u3048\u3066\u91cd\u5ea6\u306e\u767a\u9054\u9045\u6ede\u304c\u307b\u307c\u5168\u4f8b\u3067\u898b\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%BF%83%E8%A1%80%E7%AE%A1%E7%B3%BB%E3%81%AE%E7%95%B0%E5%B8%B8%EF%BC%88Cardiac%EF%BC%89\"><\/span><strong>\u5fc3\u8840\u7ba1\u7cfb\u306e\u7570\u5e38\uff08Cardiac\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u7d0475%\u4ee5\u4e0a\u306e\u75c7\u4f8b\u3067\u5148\u5929\u7684\u306a\u5fc3\u75be\u60a3\u304c\u8a8d\u3081\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u80ba\u52d5\u8108\u5f01\u72ed\u7a84\uff08PS\uff09\uff1a<\/strong> \u6700\u3082\u983b\u5ea6\u304c\u9ad8\u3044\u5408\u4f75\u75c7\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u80a5\u5927\u578b\u5fc3\u7b4b\u75c7\uff08HCM\uff09\uff1a<\/strong> \u4e73\u5150\u671f\u304b\u3089\u9032\u884c\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u3001\u5fc3\u4e0d\u5168\u3084\u4e0d\u6574\u8108\u306e\u30ea\u30b9\u30af\u3092\u4f34\u3046\u305f\u3081\u3001\u6700\u3082\u53b3\u91cd\u306a\u8b66\u6212\u3092\u8981\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u4e2d\u9694\u6b20\u640d\uff1a<\/strong> \u5fc3\u623f\u4e2d\u9694\u6b20\u640d\uff08ASD\uff09\u3084\u5fc3\u5ba4\u4e2d\u9694\u6b20\u640d\uff08VSD\uff09\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%89%B9%E5%BE%B4%E7%9A%84%E3%81%AA%E9%A1%94%E8%B2%8C%EF%BC%88Facial%EF%BC%89\"><\/span><strong>\u7279\u5fb4\u7684\u306a\u9854\u8c8c\uff08Facial\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>RAS\u30d1\u30b7\u30fc\u7279\u6709\u306e\u9854\u7acb\u3061\u3092\u5448\u3057\u307e\u3059\u304c\u3001CFC\u75c7\u5019\u7fa4\u3067\u306f\u7279\u306b\u300c\u7c97\uff08Coarse\uff09\u300d\u3068\u8868\u73fe\u3055\u308c\u308b\u5f37\u3044\u7279\u5fb4\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u9ad8\u304f\u3066\u5e83\u3044\u984d\uff1a<\/strong> \u524d\u982d\u90e8\u306e\u7a81\u51fa\u304c\u76ee\u7acb\u3061\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u773c\u77bc\u88c2\u659c\u4e0b\u3068\u773c\u77bc\u4e0b\u5782\uff1a<\/strong> \u76ee\u5c3b\u304c\u4e0b\u304c\u308a\u3001\u307e\u3076\u305f\u304c\u91cd\u3044\u5370\u8c61\u3092\u4e0e\u3048\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u4f4e\u3044\u9f3b\u6881\uff1a<\/strong> \u9f3b\u306e\u4ed8\u3051\u6839\u304c\u5e73\u5766\u3067\u3001\u9f3b\u5b54\u304c\u524d\u3092\u5411\u3044\u3066\u3044\u308b\u3002<\/li>\n\n\n\n<li><strong>\u8033\u306e\u4f4e\u4f4d\u4ed8\u7740\u3068\u5f8c\u65b9\u56de\u65cb\uff1a<\/strong> \u8033\u304c\u901a\u5e38\u3088\u308a\u4f4e\u3044\u4f4d\u7f6e\u306b\u3042\u308a\u3001\u5f8c\u308d\u5074\u306b\u50be\u3044\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%9A%AE%E8%86%9A%E3%83%BB%E8%A2%AB%E6%AF%9B%E3%81%AE%E7%95%B0%E5%B8%B8%EF%BC%88Cutaneous%EF%BC%89\"><\/span><strong>\u76ae\u819a\u30fb\u88ab\u6bdb\u306e\u7570\u5e38\uff08Cutaneous\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>CFC2\u3092\u4ed6\u306e\u985e\u4f3c\u75be\u60a3\uff08\u30cc\u30fc\u30ca\u30f3\u75c7\u5019\u7fa4\u306a\u3069\uff09\u304b\u3089\u533a\u5225\u3059\u308b\u6700\u5927\u306e\u81e8\u5e8a\u7684\u6307\u6a19\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u89d2\u5316\u7570\u5e38\u75c7\uff1a<\/strong> \u9b5a\u9c57\u766c\u69d8\u306e\u76ae\u819a\u306e\u4e7e\u71e5\u3001\u6bdb\u5b54\u6027\u89d2\u5316\u75c7\uff08\u76ae\u819a\u306e\u30d6\u30c4\u30d6\u30c4\uff09\u304c\u5168\u8eab\u306b\u898b\u3089\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5e0c\u8584\u3067\u7e2e\u308c\u305f\u6bdb\u9aea\uff1a<\/strong> \u9aea\u306e\u6bdb\u304c\u975e\u5e38\u306b\u7d30\u304f\u3001\u7e2e\u308c\u3066\u304a\u308a\u3001\u6210\u9577\u304c\u9045\u3044\u306e\u304c\u7279\u5fb4\u3067\u3059\u3002\u7709\u6bdb\u3084\u307e\u3064\u6bdb\u304c\u8584\u3044\u3001\u3042\u308b\u3044\u306f\u6d88\u5931\u3057\u3066\u3044\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6e7f\u75b9\u30fb\u8840\u7ba1\u816b\uff1a<\/strong> \u9811\u56fa\u306a\u6e7f\u75b9\u3084\u3001\u5c0f\u3055\u306a\u8d64\u3044\u8840\u7ba1\u816b\u304c\u591a\u767a\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%A5%9E%E7%B5%8C%E7%99%BA%E9%81%94%E3%81%A8%E9%9A%8F%E4%BC%B4%E7%97%87%E7%8A%B6\"><\/span><strong>\u795e\u7d4c\u767a\u9054\u3068\u968f\u4f34\u75c7\u72b6<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5168\u822c\u7684\u306a\u767a\u9054\u9045\u6ede\uff1a<\/strong> <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u306f\u4e2d\u7b49\u5ea6\u304b\u3089\u91cd\u5ea6\u3067\u3042\u308b\u3053\u3068\u304c\u591a\u304f\u3001\u8a00\u8a9e\u7372\u5f97\u3084\u904b\u52d5\u767a\u9054\u306b\u8457\u3057\u3044\u9045\u308c\u304c\u751f\u3058\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u7b4b\u7dca\u5f35\u4f4e\u4e0b\uff08\u4f4e\u7dca\u5f35\uff09\uff1a<\/strong> \u4f53\u5e79\u304c\u67d4\u3089\u304b\u304f\u3001\u904b\u52d5\u767a\u9054\u306e\u6307\u6a19\uff08\u9996\u5ea7\u308a\u3001\u6b69\u884c\u306a\u3069\uff09\u306e\u9054\u6210\u304c\u9045\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u3066\u3093\u304b\u3093\uff1a<\/strong> \u96e3\u6cbb\u6027\u306e\u3066\u3093\u304b\u3093\u3092\u4f34\u3046\u30b1\u30fc\u30b9\u304c\u3042\u308a\u3001\u5b9a\u671f\u7684\u306a\u8133\u6ce2\u30e2\u30cb\u30bf\u30ea\u30f3\u30b0\u304c\u5fc5\u8981\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u91cd\u5ea6\u306e\u6442\u98df\u969c\u5bb3\uff1a<\/strong> \u4e73\u5150\u671f\u306e\u5438\u555c\u4e0d\u5168\u3001\u6fc0\u3057\u3044\u5614\u5410\u3001\u80c3\u98df\u9053\u9006\u6d41\u75c7\uff08GERD\uff09\u304c\u898b\u3089\u308c\u3001\u591a\u304f\u306e\u5834\u5408\u3001\u7d4c\u7ba1\u6804\u990a\u3084\u80c3\u763b\u306e\u691c\u8a0e\u304c\u5fc5\u8981\u306b\u306a\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\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\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"3_%E8%A8%BA%E6%96%AD%E3%81%A8%E9%91%91%E5%88%A5%EF%BC%9A%E8%87%A8%E5%BA%8A%E7%9A%84%E7%96%91%E3%81%84%E3%81%8B%E3%82%89%E5%88%86%E5%AD%90%E8%A8%BA%E6%96%AD%E3%81%B8\"><\/span><strong>3. \u8a3a\u65ad\u3068\u9451\u5225\uff1a\u81e8\u5e8a\u7684\u7591\u3044\u304b\u3089\u5206\u5b50\u8a3a\u65ad\u3078<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>CFC2\u306f\u3001\u30b3\u30b9\u30c8\u30ed\u75c7\u5019\u7fa4\u3084\u30cc\u30fc\u30ca\u30f3\u75c7\u5019\u7fa4\u3068\u8868\u73fe\u578b\u304c\u91cd\u306a\u308b\u305f\u3081\u3001\u5916\u898b\u306e\u307f\u3067\u306e\u78ba\u5b9a\u8a3a\u65ad\u306f\u4e0d\u53ef\u80fd\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E8%87%A8%E5%BA%8A%E8%A8%BA%E6%96%AD%E5%9F%BA%E6%BA%96\"><\/span><strong>\u81e8\u5e8a\u8a3a\u65ad\u57fa\u6e96<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u76ae\u819a\u75c7\u72b6\uff08\u7e2e\u6bdb\u3001\u89d2\u5316\u7570\u5e38\uff09\u306e\u5b58\u5728\u3068\u3001\u91cd\u5ea6\u306e\u767a\u9054\u9045\u6ede\u3001\u305d\u3057\u3066\u80a5\u5927\u578b\u5fc3\u7b4b\u75c7\u306e\u7d44\u307f\u5408\u308f\u305b\u304c\u3001CFC\u75c7\u5019\u7fa4\u3092\u5f37\u304f\u793a\u5506\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%E3%83%91%E3%83%8D%E3%83%AB%E6%A4%9C%E6%9F%BB\"><\/span><strong>\u907a\u4f1d\u5b50\u30d1\u30cd\u30eb\u691c\u67fb<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u73fe\u5728\u3001\u78ba\u5b9a\u8a3a\u65ad\u306b\u306f<strong>\u6b21\u4e16\u4ee3\u30b7\u30fc\u30b1\u30f3\u30b7\u30f3\u30b0\uff08NGS\uff09\u306b\u3088\u308b\u907a\u4f1d\u5b50\u691c\u67fb<\/strong>\u304c\u4e0d\u53ef\u6b20\u3067\u3059\u3002<\/p>\n\n\n\n<ol class=\"wp-block-list\">\n<li><strong>RAS\u30d1\u30b7\u30fc\u95a2\u9023\u30d1\u30cd\u30eb\uff1a<\/strong> BRAF, MAP2K1, MAP2K2, KRAS\u306a\u3069\u306e\u4e3b\u8981\u539f\u56e0\u907a\u4f1d\u5b50\u3092\u4e00\u5ea6\u306b\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>MAP2K1\u5909\u7570\u306e\u7279\u5b9a\uff1a<\/strong> \u907a\u4f1d\u5b50\u691c\u67fb\u3067MAP2K1\u306b\u6709\u610f\u306a\u5909\u7570\u304c\u898b\u3064\u304b\u3063\u305f\u5834\u5408\u3001CFC2\u3068\u78ba\u5b9a\u3055\u308c\u307e\u3059\u3002<\/li>\n<\/ol>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"640\" height=\"426\" src=\"\/nipt\/wp-content\/uploads\/2026\/01\/33515978_s-1.webp\" alt=\"\u533b\u8005\" class=\"wp-image-121626\"\/><\/figure><\/div>\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"4_%E7%AE%A1%E7%90%86%E3%81%A8%E6%B2%BB%E7%99%82%E6%88%A6%E7%95%A5%EF%BC%9A%E5%8C%85%E6%8B%AC%E7%9A%84%E3%81%AA%E3%83%81%E3%83%BC%E3%83%A0%E5%8C%BB%E7%99%82%E3%81%AE%E5%AE%9F%E8%B7%B5\"><\/span><strong>4. \u7ba1\u7406\u3068\u6cbb\u7642\u6226\u7565\uff1a\u5305\u62ec\u7684\u306a\u30c1\u30fc\u30e0\u533b\u7642\u306e\u5b9f\u8df5<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u73fe\u5728\u3001MAP2K1\u5909\u7570\u305d\u306e\u3082\u306e\u3092\u4fee\u6b63\u3059\u308b\u6839\u672c\u7684\u306a\u6cbb\u7642\u6cd5\u306f\u78ba\u7acb\u3055\u308c\u3066\u3044\u307e\u305b\u3093\u3002\u3057\u304b\u3057\u3001\u591a\u8077\u7a2e\u9023\u643a\u306b\u3088\u308b\u7a4d\u6975\u7684\u306a\u4ecb\u5165\u304c\u4e88\u5f8c\u3092\u5de6\u53f3\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%BE%AA%E7%92%B0%E5%99%A8%E7%AE%A1%E7%90%86\"><\/span><strong>\u5faa\u74b0\u5668\u7ba1\u7406<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u5b9a\u671f\u7684\u306a\u5fc3\u30a8\u30b3\u30fc\u691c\u67fb\u306f\u5fc5\u9808\u3067\u3059\u3002\u7279\u306b\u80a5\u5927\u578b\u5fc3\u7b4b\u75c7\uff08HCM\uff09\u304c\u8a8d\u3081\u3089\u308c\u308b\u5834\u5408\u3001\u03b2\u906e\u65ad\u85ac\u306a\u3069\u306b\u3088\u308b\u7ba1\u7406\u3084\u3001\u7a81\u7136\u6b7b\u3092\u9632\u3050\u305f\u3081\u306e\u53b3\u91cd\u306a\u30e2\u30cb\u30bf\u30ea\u30f3\u30b0\u304c\u884c\u308f\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%9A%AE%E8%86%9A%E7%A7%91%E7%9A%84%E7%AE%A1%E7%90%86\"><\/span><strong>\u76ae\u819a\u79d1\u7684\u7ba1\u7406<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u89d2\u5316\u7570\u5e38\u306b\u5bfe\u3059\u308b\u4fdd\u6e7f\u5264\uff08\u30d8\u30d1\u30ea\u30f3\u985e\u4f3c\u7269\u8cea\u3084\u5c3f\u7d20\u8edf\u818f\uff09\u306e\u5857\u5e03\u3001\u6bdb\u5b54\u6027\u89d2\u5316\u75c7\u306b\u5bfe\u3059\u308b\u89d2\u8cea\u6eb6\u89e3\u5264\u306e\u4f7f\u7528\u304c\u5fc5\u8981\u3067\u3059\u3002\u307e\u305f\u3001\u76ae\u819a\u306e\u30d0\u30ea\u30a2\u6a5f\u80fd\u304c\u4f4e\u3044\u305f\u3081\u3001\u4e8c\u6b21\u611f\u67d3\u306b\u5bfe\u3059\u308b\u8b66\u6212\u3082\u91cd\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%A5%9E%E7%B5%8C%E7%99%BA%E9%81%94%E3%83%BB%E7%99%82%E8%82%B2%E6%94%AF%E6%8F%B4\"><\/span><strong>\u795e\u7d4c\u767a\u9054\u30fb\u7642\u80b2\u652f\u63f4<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u65e9\u671f\u304b\u3089\u306e\u7406\u5b66\u7642\u6cd5\uff08PT\uff09\u3001\u4f5c\u696d\u7642\u6cd5\uff08OT\uff09\u3001\u8a00\u8a9e\u8074\u899a\u7642\u6cd5\uff08ST\uff09\u306e\u4ecb\u5165\u304c\u63a8\u5968\u3055\u308c\u307e\u3059\u3002\u7279\u306b\u6442\u98df\u969c\u5bb3\u306b\u5bfe\u3057\u3066\u306f\u3001ST\u306b\u3088\u308b\u56a5\u4e0b\u6307\u5c0e\u3084\u6804\u990a\u58eb\u306b\u3088\u308b\u30ab\u30ed\u30ea\u30fc\u7ba1\u7406\u304c\u6210\u9577\u3092\u652f\u3048\u308b\u67f1\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"5_%E6%9C%80%E6%96%B0%E3%81%AE%E7%A0%94%E7%A9%B6%E5%8B%95%E5%90%91%EF%BC%9AMEK%E9%98%BB%E5%AE%B3%E8%96%AC%E3%81%AE%E5%8F%AF%E8%83%BD%E6%80%A7\"><\/span><strong>5. \u6700\u65b0\u306e\u7814\u7a76\u52d5\u5411\uff1aMEK\u963b\u5bb3\u85ac\u306e\u53ef\u80fd\u6027<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u8fd1\u5e74\u3001CFC2\u3092\u542b\u3080RAS\u30d1\u30b7\u30fc\u306b\u5bfe\u3059\u308b\u9769\u65b0\u7684\u306a\u6cbb\u7642\u30a2\u30d7\u30ed\u30fc\u30c1\u3068\u3057\u3066\u3001<strong>MEK\u963b\u5bb3\u85ac<\/strong>\u306e\u7814\u7a76\u304c\u9032\u3093\u3067\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%88%86%E5%AD%90%E6%A8%99%E7%9A%84%E7%99%82%E6%B3%95%E3%81%AE%E5%B1%95%E6%9C%9B\"><\/span><strong>\u5206\u5b50\u6a19\u7684\u7642\u6cd5\u306e\u5c55\u671b<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>MAP2K1\uff08MEK1\uff09\u306f\u305d\u308c\u81ea\u4f53\u304c\u9175\u7d20\u3067\u3042\u308b\u305f\u3081\u3001\u305d\u306e\u6d3b\u6027\u3092\u6291\u5236\u3059\u308b\u85ac\u5264\uff08MEK\u963b\u5bb3\u85ac\uff09\u304c\u65e2\u306b\u764c\u6cbb\u7642\u306a\u3069\u306e\u5206\u91ce\u3067\u5b9f\u7528\u5316\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u81e8\u5e8a\u8a66\u9a13\u306e\u52d5\u5411\uff1a<\/strong> \u6d77\u5916\u3067\u306f\u3001\u91cd\u5ea6\u306e\u80a5\u5927\u578b\u5fc3\u7b4b\u75c7\u3092\u4f34\u3046RAS\u30d1\u30b7\u30fc\u60a3\u8005\u306b\u5bfe\u3057\u3001MEK\u963b\u5bb3\u85ac\uff08\u30c8\u30e9\u30e1\u30c1\u30cb\u30d6\u306a\u3069\uff09\u3092\u6295\u4e0e\u3057\u3001\u5fc3\u7b4b\u306e\u539a\u307f\u304c\u6539\u5584\u3057\u305f\u3068\u3044\u3046\u75c7\u4f8b\u5831\u544a\u304c\u76f8\u6b21\u3044\u3067\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u8ab2\u984c\uff1a<\/strong> \u767a\u80b2\u671f\u306e\u5b50\u4f9b\u306b\u5bfe\u3059\u308b\u9577\u671f\u6295\u4e0e\u306e\u5b89\u5168\u6027\u3084\u3001\u8133\u306e\u767a\u9054\u3078\u306e\u5f71\u97ff\u306a\u3069\u3001\u514b\u670d\u3059\u3079\u304d\u8ab2\u984c\u306f\u591a\u3044\u3082\u306e\u306e\u3001\u6839\u672c\u6cbb\u7642\u306b\u5411\u3051\u305f\u5927\u304d\u306a\u5e0c\u671b\u3068\u306a\u3063\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%B5%90%E8%AB%96%EF%BC%9A%E7%90%86%E8%A7%A3%E3%81%AE%E6%B7%B1%E5%8C%96%E3%81%8C%E6%82%A3%E8%80%85%E3%81%AE%E6%9C%AA%E6%9D%A5%E3%82%92%E6%94%AF%E3%81%88%E3%82%8B\"><\/span><strong>\u7d50\u8ad6\uff1a\u7406\u89e3\u306e\u6df1\u5316\u304c\u60a3\u8005\u306e\u672a\u6765\u3092\u652f\u3048\u308b<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>Cardiofaciocutaneous Syndrome 2\uff08CFC2\uff09\u306f\u3001\u5358\u306a\u308b\u5f62\u614b\u7570\u5e38\u306e\u96c6\u307e\u308a\u3067\u306f\u306a\u304f\u3001MAP2K1\u3068\u3044\u3046\u7d30\u80de\u306e\u6307\u4ee4\u5854\u306e\u8aa4\u4f5c\u52d5\u304c\u751f\u307f\u51fa\u3059\u8907\u96d1\u306a\u591a\u7cfb\u7d71\u75be\u60a3\u3067\u3059\u3002\u3057\u304b\u3057\u3001\u907a\u4f1d\u5b50\u8a3a\u65ad\u306b\u3088\u3063\u3066\u305d\u306e\u300c\u8aa4\u4f5c\u52d5\u306e\u5834\u6240\u300d\u304c\u7279\u5b9a\u3055\u308c\u305f\u3053\u3068\u3067\u3001\u79c1\u305f\u3061\u306f\u4e88\u898b\u7684\u306a\u533b\u7642\u3092\u63d0\u4f9b\u3059\u308b\u3053\u3068\u304c\u53ef\u80fd\u306b\u306a\u308a\u307e\u3057\u305f\u3002<\/p>\n\n\n\n<p>\u65e9\u671f\u306e\u5fc3\u81d3\u30b1\u30a2\u3001\u9069\u5207\u306a\u30b9\u30ad\u30f3\u30b1\u30a2\u3001\u305d\u3057\u3066\u6839\u6c17\u5f37\u3044\u7642\u80b2\u3002\u3053\u308c\u3089\u3092\u7d44\u307f\u5408\u308f\u305b\u308b\u3053\u3068\u3067\u3001CFC2\u3068\u5171\u306b\u751f\u304d\u308b\u5b50\u4f9b\u305f\u3061\u306e\u6301\u3064\u53ef\u80fd\u6027\u3092\u6700\u5927\u9650\u306b\u5f15\u304d\u51fa\u3059\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002\u5e0c\u5c11\u75be\u60a3\u3067\u3042\u308b\u304b\u3089\u3053\u305d\u3001\u6b63\u3057\u3044\u77e5\u8b58\u306e\u5171\u6709\u3068\u533b\u7642\u30cd\u30c3\u30c8\u30ef\u30fc\u30af\u306e\u6d3b\u7528\u304c\u3001\u3054\u5bb6\u65cf\u306e\u652f\u3048\u3068\u306a\u308a\u3001\u5b50\u4f9b\u305f\u3061\u306e\u672a\u6765\u3092\u62d3\u304f\u9375\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n<!--nipt_mono-->\r\n<div 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