{"id":122799,"date":"2026-01-15T10:01:15","date_gmt":"2026-01-15T01:01:15","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?p=122799"},"modified":"2026-03-27T16:42:05","modified_gmt":"2026-03-27T07:42:05","slug":"cardiofaciocutaneous-syndrome-3-map2k1-genetics","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/cardiofaciocutaneous-syndrome-3-map2k1-genetics\/","title":{"rendered":"Cardiofaciocutaneous Syndrome 3"},"content":{"rendered":"\n<p>Cardiofaciocutaneous\uff08CFC\uff09\u75c7\u5019\u7fa4\u306f\u3001\u5fc3\u81d3\uff08Cardio\uff09\u3001\u7279\u7570\u7684\u306a\u9854\u8c8c\uff08Facio\uff09\u3001\u76ae\u819a\uff08Cutaneous\uff09\u306e\u7570\u5e38\u3092\u4e3b\u5fb4\u3068\u3059\u308b\u5148\u5929\u6027\u75be\u60a3\u7fa4\u3067\u3059\u3002\u305d\u306e\u4e2d\u3067\u3082\u300cCardiofaciocutaneous Syndrome 3\uff08CFC3\uff09\u300d\u306f\u3001MAP2K1\u907a\u4f1d\u5b50\u306e\u75c5\u7684\u5909\u7570\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u308b\u7279\u5b9a\u306e\u30b5\u30d6\u30bf\u30a4\u30d7\u3092\u6307\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u8fd1\u5e74\u3001\u30b2\u30ce\u30e0\u89e3\u6790\u6280\u8853\u306e\u9032\u6b69\u306b\u3088\u308a\u3001RAS\/MAPK\u30b7\u30b0\u30ca\u30eb\u4f1d\u9054\u7d4c\u8def\u306e\u7570\u5e38\u304c\u591a\u5c90\u306b\u308f\u305f\u308b\u8868\u73fe\u578b\u3092\u751f\u307f\u51fa\u3059\u3053\u3068\u304c\u660e\u3089\u304b\u306b\u306a\u3063\u3066\u304d\u307e\u3057\u305f\u3002CFC3\u306f\u975e\u5e38\u306b\u5e0c\u5c11\u306a\u75be\u60a3\u3067\u3042\u308a\u3001\u305d\u306e\u8a3a\u65ad\u3084\u9577\u671f\u7684\u306a\u7ba1\u7406\u306b\u306f\u3001\u907a\u4f1d\u5b66\u3001\u5faa\u74b0\u5668\u5b66\u3001\u76ae\u819a\u79d1\u5b66\u3001\u795e\u7d4c\u5c0f\u5150\u79d1\u5b66\u3068\u3044\u3063\u305f\u591a\u9818\u57df\u306b\u308f\u305f\u308b\u5c02\u9580\u77e5\u8b58\u306e\u7d71\u5408\u304c\u4e0d\u53ef\u6b20\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u672c\u8a18\u4e8b\u3067\u306f\u3001CFC3\u306e\u5206\u5b50\u907a\u4f1d\u5b66\u7684\u80cc\u666f\u304b\u3089\u3001\u81e8\u5e8a\u7684\u7279\u5fb4\u3001\u6700\u65b0\u306e\u8a3a\u65ad\u57fa\u6e96\u3001\u305d\u3057\u3066\u73fe\u5728\u9032\u884c\u4e2d\u306e\u6cbb\u7642\u7814\u7a76\u306b\u81f3\u308b\u307e\u3067\u3001\u5c02\u9580\u7684\u306a\u77e5\u898b\u306b\u57fa\u3065\u304d\u7db2\u7f85\u7684\u306b\u89e3\u8aac\u3057\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\n\n\n\n<div id=\"ez-toc-container\" class=\"ez-toc-v2_0_84 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\/cardiofaciocutaneous-syndrome-3-map2k1-genetics\/#1_CFC3%E3%81%AE%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%E9%81%BA%E4%BC%9D%E5%AD%90%E3%81%A8RAS%E3%83%91%E3%83%81%E3%83%BC\" >1. CFC3\u306e\u5206\u5b50\u907a\u4f1d\u5b66\u7684\u80cc\u666f\uff1aMAP2K1\u907a\u4f1d\u5b50\u3068RAS\u30d1\u30c1\u30fc<\/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-3-map2k1-genetics\/#MAP2K1%E9%81%BA%E4%BC%9D%E5%AD%90%E3%81%AE%E5%BD%B9%E5%89%B2\" >MAP2K1\u907a\u4f1d\u5b50\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-3-map2k1-genetics\/#RAS%E3%83%91%E3%83%81%E3%83%BC%EF%BC%88RASopathies%EF%BC%89%E3%81%A8%E3%81%97%E3%81%A6%E3%81%AE%E4%BD%8D%E7%BD%AE%E3%81%A5%E3%81%91\" >RAS\u30d1\u30c1\u30fc\uff08RASopathies\uff09\u3068\u3057\u3066\u306e\u4f4d\u7f6e\u3065\u3051<\/a><\/li><\/ul><\/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\/cardiofaciocutaneous-syndrome-3-map2k1-genetics\/#2_%E8%87%A8%E5%BA%8A%E7%9A%84%E7%89%B9%E5%BE%B4%EF%BC%9A%E5%BF%83%E8%87%93%E3%83%BB%E9%A1%94%E8%B2%8C%E3%83%BB%E7%9A%AE%E8%86%9A%E3%81%AB%E3%81%8A%E3%81%91%E3%82%8B%E5%A4%9A%E7%B3%BB%E7%B5%B1%E3%81%AE%E7%95%B0%E5%B8%B8\" >2. \u81e8\u5e8a\u7684\u7279\u5fb4\uff1a\u5fc3\u81d3\u30fb\u9854\u8c8c\u30fb\u76ae\u819a\u306b\u304a\u3051\u308b\u591a\u7cfb\u7d71\u306e\u7570\u5e38<\/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\/cardiofaciocutaneous-syndrome-3-map2k1-genetics\/#%E5%BF%83%E8%A1%80%E7%AE%A1%E7%B3%BB%E3%81%AE%E7%95%B0%E5%B8%B8%EF%BC%88Cardio%EF%BC%89\" >\u5fc3\u8840\u7ba1\u7cfb\u306e\u7570\u5e38\uff08Cardio\uff09<\/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\/cardiofaciocutaneous-syndrome-3-map2k1-genetics\/#%E7%89%B9%E5%BE%B4%E7%9A%84%E3%81%AA%E9%A1%94%E8%B2%8C%EF%BC%88Facio%EF%BC%89\" >\u7279\u5fb4\u7684\u306a\u9854\u8c8c\uff08Facio\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-3-map2k1-genetics\/#%E7%9A%AE%E8%86%9A%E3%81%8A%E3%82%88%E3%81%B3%E4%BB%98%E5%B1%9E%E5%99%A8%E3%81%AE%E7%95%B0%E5%B8%B8%EF%BC%88Cutaneous%EF%BC%89\" >\u76ae\u819a\u304a\u3088\u3073\u4ed8\u5c5e\u5668\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-8\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/cardiofaciocutaneous-syndrome-3-map2k1-genetics\/#%E7%A5%9E%E7%B5%8C%E7%99%BA%E9%81%94%E3%81%A8%E7%AD%8B%E9%AA%A8%E6%A0%BC%E7%B3%BB\" >\u795e\u7d4c\u767a\u9054\u3068\u7b4b\u9aa8\u683c\u7cfb<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-9\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/cardiofaciocutaneous-syndrome-3-map2k1-genetics\/#3_%E8%A8%BA%E6%96%AD%E3%83%97%E3%83%AD%E3%82%BB%E3%82%B9%E3%81%A8%E9%91%91%E5%88%A5%E8%A8%BA%E6%96%AD%EF%BC%9A%E7%B2%BE%E5%AF%86%E5%8C%BB%E7%99%82%E3%81%AE%E9%87%8D%E8%A6%81%E6%80%A7\" >3. \u8a3a\u65ad\u30d7\u30ed\u30bb\u30b9\u3068\u9451\u5225\u8a3a\u65ad\uff1a\u7cbe\u5bc6\u533b\u7642\u306e\u91cd\u8981\u6027<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-10\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/cardiofaciocutaneous-syndrome-3-map2k1-genetics\/#%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-11\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/cardiofaciocutaneous-syndrome-3-map2k1-genetics\/#%E9%81%BA%E4%BC%9D%E5%AD%90%E5%AD%A6%E7%9A%84%E6%A4%9C%E6%9F%BB\" >\u907a\u4f1d\u5b50\u5b66\u7684\u691c\u67fb<\/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-3-map2k1-genetics\/#%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-13\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/cardiofaciocutaneous-syndrome-3-map2k1-genetics\/#4_%E5%90%88%E4%BD%B5%E7%97%87%E7%AE%A1%E7%90%86%E3%81%A8%E6%B2%BB%E7%99%82%E3%81%B8%E3%81%AE%E3%82%A2%E3%83%97%E3%83%AD%E3%83%BC%E3%83%81%EF%BC%9A%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. \u5408\u4f75\u75c7\u7ba1\u7406\u3068\u6cbb\u7642\u3078\u306e\u30a2\u30d7\u30ed\u30fc\u30c1\uff1a\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-3-map2k1-genetics\/#%E5%BE%AA%E7%92%B0%E5%99%A8%E5%AD%A6%E7%9A%84%E7%AE%A1%E7%90%86\" >\u5faa\u74b0\u5668\u5b66\u7684\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-3-map2k1-genetics\/#%E7%9A%AE%E8%86%9A%E7%A7%91%E7%9A%84%E3%82%B1%E3%82%A2\" >\u76ae\u819a\u79d1\u7684\u30b1\u30a2<\/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-3-map2k1-genetics\/#%E7%99%BA%E9%81%94%E6%94%AF%E6%8F%B4%E3%81%A8%E3%83%AA%E3%83%8F%E3%83%93%E3%83%AA%E3%83%86%E3%83%BC%E3%82%B7%E3%83%A7%E3%83%B3\" >\u767a\u9054\u652f\u63f4\u3068\u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3<\/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-3-map2k1-genetics\/#5_%E6%9C%AA%E6%9D%A5%E3%81%AE%E5%B1%95%E6%9C%9B%EF%BC%9AMEK%E9%98%BB%E5%AE%B3%E8%96%AC%E3%81%A8%E7%B2%BE%E5%AF%86%E5%8C%BB%E7%99%82\" >5. \u672a\u6765\u306e\u5c55\u671b\uff1aMEK\u963b\u5bb3\u85ac\u3068\u7cbe\u5bc6\u533b\u7642<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-18\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/cardiofaciocutaneous-syndrome-3-map2k1-genetics\/#%E7%B5%90%E8%AB%96%EF%BC%9ACFC3%E3%81%A8%E5%85%B1%E3%81%AB%E6%AD%A9%E3%82%80%E3%81%9F%E3%82%81%E3%81%AB\" >\u7d50\u8ad6\uff1aCFC3\u3068\u5171\u306b\u6b69\u3080\u305f\u3081\u306b<\/a><\/li><\/ul><\/nav><\/div>\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"1_CFC3%E3%81%AE%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%E9%81%BA%E4%BC%9D%E5%AD%90%E3%81%A8RAS%E3%83%91%E3%83%81%E3%83%BC\"><\/span><strong>1. CFC3\u306e\u5206\u5b50\u907a\u4f1d\u5b66\u7684\u80cc\u666f\uff1aMAP2K1\u907a\u4f1d\u5b50\u3068RAS\u30d1\u30c1\u30fc<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>Cardiofaciocutaneous Syndrome 3\u3092\u7406\u89e3\u3059\u308b\u4e0a\u3067\u4e0d\u53ef\u6b20\u306a\u306e\u304c\u3001<strong>RAS\/MAPK\u30b7\u30b0\u30ca\u30eb\u4f1d\u9054\u7d4c\u8def<\/strong>\u306e\u77e5\u8b58\u3067\u3059\u3002\u3053\u306e\u7d4c\u8def\u306f\u3001\u7d30\u80de\u306e\u5897\u6b96\u3001\u5206\u5316\u3001\u751f\u5b58\u3092\u5236\u5fa1\u3059\u308b\u91cd\u8981\u306a\u5f79\u5272\u3092\u62c5\u3063\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"MAP2K1%E9%81%BA%E4%BC%9D%E5%AD%90%E3%81%AE%E5%BD%B9%E5%89%B2\"><\/span><strong>MAP2K1\u907a\u4f1d\u5b50\u306e\u5f79\u5272<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>CFC3\u306e\u539f\u56e0\u907a\u4f1d\u5b50\u3067\u3042\u308bMAP2K1\uff08Mitogen-Activated Protein Kinase Kinase 1\uff09\u306f\u3001MEK1\u30bf\u30f3\u30d1\u30af\u8cea\u3092\u30b3\u30fc\u30c9\u3057\u3066\u3044\u307e\u3059\u3002MEK1\u306f\u3001RAS\u304b\u3089\u59cb\u307e\u308aRAF\u3092\u7d4c\u3066ERK\u306b\u81f3\u308b\u30ab\u30b9\u30b1\u30fc\u30c9\u306e\u4e2d\u6838\u3092\u306a\u3059\u30ad\u30ca\u30fc\u30bc\u3067\u3059\u3002<\/p>\n\n\n\n<p>CFC3\u306b\u304a\u3051\u308b\u5909\u7570\u306e\u591a\u304f\u306f\u300c\u6a5f\u80fd\u7372\u5f97\u578b\uff08gain-of-function\uff09\u300d\u5909\u7570\u3067\u3059\u3002\u901a\u5e38\u3001\u3053\u306e\u30b7\u30b0\u30ca\u30eb\u7d4c\u8def\u306f\u5916\u90e8\u304b\u3089\u306e\u523a\u6fc0\uff08\u6210\u9577\u56e0\u5b50\u306a\u3069\uff09\u306b\u3088\u3063\u3066\u53b3\u5bc6\u306b\u5236\u5fa1\u3055\u308c\u3066\u3044\u307e\u3059\u304c\u3001MAP2K1\u306b\u75c5\u7684\u5909\u7570\u304c\u751f\u3058\u308b\u3068\u3001MEK1\u30bf\u30f3\u30d1\u30af\u8cea\u304c\u6052\u5e38\u7684\u306b\u6d3b\u6027\u5316\u3001\u3042\u308b\u3044\u306f\u523a\u6fc0\u306b\u5bfe\u3057\u3066\u904e\u5270\u306b\u53cd\u5fdc\u3059\u308b\u3088\u3046\u306b\u306a\u308a\u307e\u3059\u3002\u3053\u306e\u7d30\u80de\u30ec\u30d9\u30eb\u3067\u306e\u300c\u66b4\u8d70\u300d\u304c\u3001\u80da\u767a\u751f\u306e\u30d7\u30ed\u30bb\u30b9\u3092\u6b6a\u3081\u3001\u5168\u8eab\u6027\u306e\u8907\u96d1\u306a\u75c7\u72b6\u3092\u5f15\u304d\u8d77\u3053\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"RAS%E3%83%91%E3%83%81%E3%83%BC%EF%BC%88RASopathies%EF%BC%89%E3%81%A8%E3%81%97%E3%81%A6%E3%81%AE%E4%BD%8D%E7%BD%AE%E3%81%A5%E3%81%91\"><\/span><strong>RAS\u30d1\u30c1\u30fc\uff08RASopathies\uff09\u3068\u3057\u3066\u306e\u4f4d\u7f6e\u3065\u3051<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>CFC\u75c7\u5019\u7fa4\u306f\u3001\u30cc\u30fc\u30ca\u30f3\u75c7\u5019\u7fa4\u3084\u30b3\u30b9\u30c8\u30ed\u75c7\u5019\u7fa4\u3068\u3068\u3082\u306b\u300cRAS\u30d1\u30c1\u30fc\u300d\u3068\u3044\u3046\u75be\u60a3\u7fa4\u306b\u5206\u985e\u3055\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>CFC1:<\/strong> BRAF\u5909\u7570\uff08\u6700\u591a\u3001\u7d0475%\uff09<\/li>\n\n\n\n<li><strong>CFC2:<\/strong> MAP2K1\/MAP2K2\u5909\u7570\uff08\u4e00\u90e8\uff09<\/li>\n\n\n\n<li><strong>CFC3:<\/strong> MAP2K1\u5909\u7570\uff08\u7279\u5b9a\u306e\u8868\u73fe\u578b\u306b\u95a2\u9023\uff09<\/li>\n\n\n\n<li><strong>CFC4:<\/strong> MAP2K2\u5909\u7570<\/li>\n<\/ul>\n\n\n\n<p>CFC3\u306f\u3001\u4ed6\u306e\u30b5\u30d6\u30bf\u30a4\u30d7\u3068\u6bd4\u8f03\u3057\u3066\u7279\u5b9a\u306e\u81e8\u5e8a\u7684\u50be\u5411\u3092\u6301\u3064\u3053\u3068\u304c\u793a\u5506\u3055\u308c\u3066\u3044\u307e\u3059\u304c\u3001\u75c7\u4f8b\u6570\u304c\u9650\u3089\u308c\u3066\u3044\u308b\u305f\u3081\u3001\u500b\u5225\u306e\u30d0\u30ea\u30a2\u30f3\u30c8\u89e3\u6790\u304c\u91cd\u8981\u8996\u3055\u308c\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%BF%83%E8%87%93%E3%83%BB%E9%A1%94%E8%B2%8C%E3%83%BB%E7%9A%AE%E8%86%9A%E3%81%AB%E3%81%8A%E3%81%91%E3%82%8B%E5%A4%9A%E7%B3%BB%E7%B5%B1%E3%81%AE%E7%95%B0%E5%B8%B8\"><\/span><strong>2. \u81e8\u5e8a\u7684\u7279\u5fb4\uff1a\u5fc3\u81d3\u30fb\u9854\u8c8c\u30fb\u76ae\u819a\u306b\u304a\u3051\u308b\u591a\u7cfb\u7d71\u306e\u7570\u5e38<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>CFC3\u306e\u8868\u73fe\u578b\u306f\u6975\u3081\u3066\u591a\u69d8\u3067\u3059\u304c\u3001\u53e4\u5178\u7684\u306a\u4e09\u4e3b\u5fb4\uff08\u5fc3\u3001\u9854\u3001\u76ae\uff09\u306b\u52a0\u3048\u3066\u3001\u795e\u7d4c\u767a\u9054\u306e\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%88Cardio%EF%BC%89\"><\/span><strong>\u5fc3\u8840\u7ba1\u7cfb\u306e\u7570\u5e38\uff08Cardio\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u60a3\u8005\u306e\u7d0475\u301c80%\u306b\u5fc3\u81d3\u306e\u69cb\u9020\u7684\u30fb\u6a5f\u80fd\u7684\u7570\u5e38\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\u75c7\uff08PVS\uff09:<\/strong> \u6700\u3082\u983b\u5ea6\u306e\u9ad8\u3044\u5fc3\u5947\u5f62\u306e\u4e00\u3064\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u80a5\u5927\u578b\u5fc3\u7b4b\u75c7\uff08HCM\uff09:<\/strong> \u4e88\u5f8c\u3092\u5de6\u53f3\u3059\u308b\u91cd\u8981\u306a\u5408\u4f75\u75c7\u3067\u3042\u308a\u3001\u9032\u884c\u6027\u3092\u793a\u3059\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5fc3\u623f\u4e2d\u9694\u6b20\u640d\uff08ASD\uff09\u3084\u5fc3\u5ba4\u4e2d\u9694\u6b20\u640d\uff08VSD\uff09:<\/strong> \u4e2d\u9694\u6b20\u640d\u3082\u3057\u3070\u3057\u3070\u89b3\u5bdf\u3055\u308c\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%88Facio%EF%BC%89\"><\/span><strong>\u7279\u5fb4\u7684\u306a\u9854\u8c8c\uff08Facio\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u51fa\u751f\u6642\u3088\u308a\u8a8d\u3081\u3089\u308c\u308b\u7279\u7570\u7684\u306a\u9854\u8c8c\u306f\u3001\u8a3a\u65ad\u306e\u5927\u304d\u306a\u624b\u304c\u304b\u308a\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u9ad8\u304f\u3066\u5e83\u3044\u984d\u3001\u5074\u982d\u90e8\u306e\u72ed\u5c0f\u5316<\/li>\n\n\n\n<li>\u773c\u77bc\u4e0b\u5782\u3001\u773c\u7403\u7a81\u51fa\u3001\u5185\u7725\u8d05\u76ae<\/li>\n\n\n\n<li>\u4f4e\u3044\u9f3b\u6881\u3068\u4e0a\u5411\u304d\u306e\u9f3b\u5b54<\/li>\n\n\n\n<li>\u4f4e\u4f4d\u4ed8\u7740\u8033\u3068\u5f8c\u65b9\u56de\u65cb\u3057\u305f\u8033\u4ecb<\/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%81%8A%E3%82%88%E3%81%B3%E4%BB%98%E5%B1%9E%E5%99%A8%E3%81%AE%E7%95%B0%E5%B8%B8%EF%BC%88Cutaneous%EF%BC%89\"><\/span><strong>\u76ae\u819a\u304a\u3088\u3073\u4ed8\u5c5e\u5668\u306e\u7570\u5e38\uff08Cutaneous\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u300cCFC\u300d\u306e\u540d\u306e\u901a\u308a\u3001\u76ae\u819a\u75c7\u72b6\u306f\u975e\u5e38\u306b\u9855\u8457\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u9b5a\u9c57\u766c\u69d8\u5909\u5316:<\/strong> \u5168\u8eab\u306e\u76ae\u819a\u304c\u4e7e\u71e5\u3057\u3001\u89d2\u8cea\u304c\u539a\u304f\u306a\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u89d2\u5316\u6027\u4e18\u75b9:<\/strong> \u8155\u3084\u304f\u307c\u307f\u306b\u5c0f\u3055\u306a\u9686\u8d77\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u758e\u306a\u6bdb\u9aea:<\/strong> \u7709\u6bdb\u3084\u776b\u6bdb\u304c\u6b20\u640d\u3042\u308b\u3044\u306f\u975e\u5e38\u306b\u8584\u304f\u3001\u982d\u9aea\u3082\u7e2e\u308c\u6bdb\uff08curly hair\uff09\u3067\u8106\u3044\u306e\u304c\u7279\u5fb4\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u8840\u7ba1\u816b\u3084\u8272\u7d20\u6591:<\/strong> \u8907\u6570\u306e\u6bcd\u6591\u3084\u30ab\u30d5\u30a7\u30aa\u30ec\u6591\u3092\u4f34\u3046\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%E7%AD%8B%E9%AA%A8%E6%A0%BC%E7%B3%BB\"><\/span><strong>\u795e\u7d4c\u767a\u9054\u3068\u7b4b\u9aa8\u683c\u7cfb<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>CFC3\u306b\u304a\u3044\u3066\u907f\u3051\u3066\u901a\u308c\u306a\u3044\u306e\u304c\u3001\u4e2d\u7b49\u5ea6\u304b\u3089\u91cd\u5ea6\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u3068\u767a\u9054\u9045\u6ede\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u7b4b\u7dca\u5f35\u4f4e\u4e0b\uff08Hypotonia\uff09:<\/strong> \u4e73\u5150\u671f\u306b\u9855\u8457\u3067\u3001\u904b\u52d5\u767a\u9054\u306e\u9045\u308c\u306e\u539f\u56e0\u3068\u306a\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u3066\u3093\u304b\u3093:<\/strong> \u96e3\u6cbb\u6027\u306e\u3066\u3093\u304b\u3093\u3092\u5408\u4f75\u3059\u308b\u75c7\u4f8b\u304c\u5831\u544a\u3055\u308c\u3066\u304a\u308a\u3001\u8133\u6ce2\u30e2\u30cb\u30bf\u30ea\u30f3\u30b0\u304c\u5fc5\u8981\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6442\u98df\u969c\u5bb3:<\/strong> \u54fa\u4e73\u56f0\u96e3\u3084\u80c3\u98df\u9053\u9006\u6d41\u75c7\uff08GERD\uff09\u304c\u591a\u304f\u3001\u7d4c\u7ba1\u6804\u990a\u3092\u8981\u3059\u308b\u5834\u5408\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"640\" height=\"427\" src=\"\/nipt\/wp-content\/uploads\/2025\/11\/32627722_s.webp\" alt=\"\u533b\u8005\" class=\"wp-image-119511\"\/><\/figure><\/div>\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%83%97%E3%83%AD%E3%82%BB%E3%82%B9%E3%81%A8%E9%91%91%E5%88%A5%E8%A8%BA%E6%96%AD%EF%BC%9A%E7%B2%BE%E5%AF%86%E5%8C%BB%E7%99%82%E3%81%AE%E9%87%8D%E8%A6%81%E6%80%A7\"><\/span><strong>3. \u8a3a\u65ad\u30d7\u30ed\u30bb\u30b9\u3068\u9451\u5225\u8a3a\u65ad\uff1a\u7cbe\u5bc6\u533b\u7642\u306e\u91cd\u8981\u6027<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>CFC3\u306e\u8a3a\u65ad\u306f\u3001\u81e8\u5e8a\u6240\u898b\u306e\u8a55\u4fa1\u3068\u907a\u4f1d\u5b50\u5b66\u7684\u691c\u67fb\u306e\u4e8c\u6bb5\u69cb\u3048\u3067\u884c\u308f\u308c\u307e\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>\u4ee5\u524d\u306f\u81e8\u5e8a\u30b9\u30b3\u30a2\u30ea\u30f3\u30b0\u30b7\u30b9\u30c6\u30e0\u304c\u4e3b\u6d41\u3067\u3057\u305f\u304c\u3001\u73fe\u5728\u306fRAS\u30d1\u30c1\u30fc\u9593\u306e\u75c7\u72b6\u306e\u91cd\u8907\uff08\u30aa\u30fc\u30d0\u30fc\u30e9\u30c3\u30d7\uff09\u304c\u6fc0\u3057\u3044\u305f\u3081\u3001\u78ba\u5b9a\u8a3a\u65ad\u306b\u306f\u907a\u4f1d\u5b50\u691c\u67fb\u304c\u5fc5\u9808\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u7279\u306b\u30cc\u30fc\u30ca\u30f3\u75c7\u5019\u7fa4\u3084\u30b3\u30b9\u30c8\u30ed\u75c7\u5019\u7fa4\u3068\u306e\u5224\u5225\u306f\u3001\u5916\u898b\u3060\u3051\u3067\u306f\u56f0\u96e3\u306a\u5834\u5408\u304c\u3042\u308a\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%E5%AD%A6%E7%9A%84%E6%A4%9C%E6%9F%BB\"><\/span><strong>\u907a\u4f1d\u5b50\u5b66\u7684\u691c\u67fb<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u6b21\u4e16\u4ee3\u30b7\u30fc\u30b1\u30f3\u30b7\u30f3\u30b0\uff08NGS\uff09\u3092\u7528\u3044\u305f\u30bf\u30fc\u30b2\u30c3\u30c8\u30d1\u30cd\u30eb\u89e3\u6790\u3001\u3042\u308b\u3044\u306f\u5168\u30a8\u30af\u30bd\u30fc\u30e0\u89e3\u6790\uff08WES\uff09\u304c\u63a8\u5968\u3055\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>MAP2K1\u306e\u540c\u5b9a:<\/strong> \u907a\u4f1d\u5b50\u5909\u7570\u304c\u7279\u5b9a\u3055\u308c\u308b\u3053\u3068\u3067\u3001CFC3\u3068\u3057\u3066\u306e\u78ba\u5b9a\u8a3a\u65ad\u304c\u4e0b\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0:<\/strong> \u307b\u3068\u3093\u3069\u306e\u75c7\u4f8b\u306f\u5b64\u767a\u6027\uff08de novo\u5909\u7570\uff09\u3067\u3059\u304c\u3001\u6b21\u5b50\u3078\u306e\u518d\u767a\u30ea\u30b9\u30af\u3084\u5bb6\u65cf\u8a08\u753b\u306b\u304a\u3044\u3066\u3001\u5c02\u9580\u7684\u306a\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u304c\u4e0d\u53ef\u6b20\u3067\u3059\u3002<\/li>\n<\/ul>\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<figure class=\"wp-block-table\"><table class=\"has-fixed-layout\"><tbody><tr><td><strong>\u75be\u60a3\u540d<\/strong><\/td><td><strong>\u4e3b\u306a\u539f\u56e0\u907a\u4f1d\u5b50<\/strong><\/td><td><strong>CFC3\u3068\u306e\u4e3b\u306a\u76f8\u9055\u70b9<\/strong><\/td><\/tr><tr><td><strong>\u30cc\u30fc\u30ca\u30f3\u75c7\u5019\u7fa4<\/strong><\/td><td>PTPN11, SOS1\u7b49<\/td><td>\u76ae\u819a\u75c7\u72b6\u304c\u6bd4\u8f03\u7684\u8efd\u304f\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u3082\u8efd\u5ea6\u306a\u3053\u3068\u304c\u591a\u3044\u3002<\/td><\/tr><tr><td><strong>\u30b3\u30b9\u30c8\u30ed\u75c7\u5019\u7fa4<\/strong><\/td><td>HRAS<\/td><td>\u60aa\u6027\u816b\u760d\uff08\u6a2a\u7d0b\u7b4b\u8089\u816b\u7b49\uff09\u306e\u30ea\u30b9\u30af\u304c\u6975\u3081\u3066\u9ad8\u3044\u3002<\/td><\/tr><tr><td><strong>\u30cc\u30fc\u30ca\u30f3\u75c7\u5019\u7fa4\u69d8\u75c7\u5019\u7fa4<\/strong><\/td><td>SHOC2<\/td><td>\u629c\u3051\u6bdb\u3084\u76ae\u819a\u306e\u7279\u5fb4\u304c\u4f3c\u308b\u304c\u3001\u7279\u5b9a\u306e\u8131\u6bdb\u30d1\u30bf\u30fc\u30f3\u304c\u3042\u308b\u3002<\/td><\/tr><\/tbody><\/table><\/figure>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"4_%E5%90%88%E4%BD%B5%E7%97%87%E7%AE%A1%E7%90%86%E3%81%A8%E6%B2%BB%E7%99%82%E3%81%B8%E3%81%AE%E3%82%A2%E3%83%97%E3%83%AD%E3%83%BC%E3%83%81%EF%BC%9A%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. \u5408\u4f75\u75c7\u7ba1\u7406\u3068\u6cbb\u7642\u3078\u306e\u30a2\u30d7\u30ed\u30fc\u30c1\uff1a\u30c1\u30fc\u30e0\u533b\u7642\u306e\u5b9f\u8df5<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u73fe\u6642\u70b9\u306b\u304a\u3044\u3066\u3001CFC3\u3092\u6839\u672c\u7684\u306b\u6cbb\u7652\u3055\u305b\u308b\u300c\u539f\u56e0\u7642\u6cd5\u300d\u306f\u78ba\u7acb\u3055\u308c\u3066\u3044\u307e\u305b\u3093\u3002\u3057\u304b\u3057\u3001\u5bfe\u75c7\u7642\u6cd5\u3068\u65e9\u671f\u4ecb\u5165\u306b\u3088\u308a\u3001QOL\uff08\u751f\u6d3b\u306e\u8cea\uff09\u3092\u8457\u3057\u304f\u5411\u4e0a\u3055\u305b\u308b\u3053\u3068\u304c\u53ef\u80fd\u3067\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%E5%AD%A6%E7%9A%84%E7%AE%A1%E7%90%86\"><\/span><strong>\u5faa\u74b0\u5668\u5b66\u7684\u7ba1\u7406<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u5fc3\u7b4b\u75c7\u306e\u9032\u884c\u3084\u4e0d\u6574\u8108\u3092\u76e3\u8996\u3059\u308b\u305f\u3081\u3001\u5b9a\u671f\u7684\u306a\u5fc3\u30a8\u30b3\u30fc\u3068\u5fc3\u96fb\u56f3\u691c\u67fb\u304c\u5fc5\u8981\u3067\u3059\u3002\u91cd\u75c7\u306e\u5f01\u72ed\u7a84\u306b\u5bfe\u3057\u3066\u306f\u3001\u30ab\u30c6\u30fc\u30c6\u30eb\u6cbb\u7642\u3084\u5916\u79d1\u7684\u624b\u8853\u304c\u691c\u8a0e\u3055\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%E3%82%B1%E3%82%A2\"><\/span><strong>\u76ae\u819a\u79d1\u7684\u30b1\u30a2<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u76ae\u819a\u306e\u30d0\u30ea\u30a2\u6a5f\u80fd\u304c\u4f4e\u4e0b\u3057\u3066\u3044\u308b\u305f\u3081\u3001\u5f37\u529b\u306a\u4fdd\u6e7f\u5264\uff08\u30a8\u30e2\u30ea\u30a8\u30f3\u30c8\uff09\u306e\u4f7f\u7528\u3084\u3001\u89d2\u8cea\u6eb6\u89e3\u5264\u3092\u7528\u3044\u305f\u51e6\u7f6e\u304c\u65e5\u5e38\u7684\u306b\u884c\u308f\u308c\u307e\u3059\u3002\u4e8c\u6b21\u611f\u67d3\u3092\u9632\u3050\u305f\u3081\u306e\u6e05\u62ed\u3082\u91cd\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%99%BA%E9%81%94%E6%94%AF%E6%8F%B4%E3%81%A8%E3%83%AA%E3%83%8F%E3%83%93%E3%83%AA%E3%83%86%E3%83%BC%E3%82%B7%E3%83%A7%E3%83%B3\"><\/span><strong>\u767a\u9054\u652f\u63f4\u3068\u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u65e9\u671f\u4ecb\u5165:<\/strong> \u7406\u5b66\u7642\u6cd5\uff08PT\uff09\u3001\u4f5c\u696d\u7642\u6cd5\uff08OT\uff09\u3001\u8a00\u8a9e\u8074\u899a\u7642\u6cd5\uff08ST\uff09\u3092\u65e9\u671f\u304b\u3089\u958b\u59cb\u3057\u3001\u7c97\u5927\u904b\u52d5\u80fd\u529b\u3084\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u80fd\u529b\u306e\u5411\u4e0a\u3092\u76ee\u6307\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u7d4c\u7ba1\u6804\u990a\u306e\u691c\u8a0e:<\/strong> \u6210\u9577\u969c\u5bb3\u304c\u8457\u3057\u3044\u5834\u5408\u3001\u80c3\u763b\u9020\u8a2d\u306a\u3069\u306e\u6804\u990a\u7ba1\u7406\u304c\u6210\u9577\u66f2\u7dda\u306e\u7dad\u6301\u306b\u5bc4\u4e0e\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"5_%E6%9C%AA%E6%9D%A5%E3%81%AE%E5%B1%95%E6%9C%9B%EF%BC%9AMEK%E9%98%BB%E5%AE%B3%E8%96%AC%E3%81%A8%E7%B2%BE%E5%AF%86%E5%8C%BB%E7%99%82\"><\/span><strong>5. \u672a\u6765\u306e\u5c55\u671b\uff1aMEK\u963b\u5bb3\u85ac\u3068\u7cbe\u5bc6\u533b\u7642<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u7814\u7a76\u6bb5\u968e\u3067\u306f\u3042\u308a\u307e\u3059\u304c\u3001CFC3\u3092\u542b\u3080RAS\u30d1\u30c1\u30fc\u306b\u5bfe\u3059\u308b<strong>\u5206\u5b50\u6a19\u7684\u85ac<\/strong>\u306e\u5fdc\u7528\u304c\u671f\u5f85\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u7279\u306b\u3001MAP2K1\u5909\u7570\u306b\u3088\u3063\u3066\u904e\u5270\u6d3b\u6027\u5316\u3057\u3066\u3044\u308bMEK\u3092\u6291\u5236\u3059\u308b\u300cMEK\u963b\u5bb3\u85ac\uff08\u30c8\u30e9\u30e1\u30c1\u30cb\u30d6\u306a\u3069\uff09\u300d\u306f\u3001\u304c\u3093\u6cbb\u7642\u306e\u5206\u91ce\u3067\u3059\u3067\u306b\u627f\u8a8d\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u3053\u308c\u3092RAS\u30d1\u30c1\u30fc\u306e\u6cbb\u7642\u306b\u5fdc\u7528\u3059\u308b\u81e8\u5e8a\u8a66\u9a13\u304c\u4e16\u754c\u5404\u5730\u3067\u9032\u3081\u3089\u308c\u3066\u304a\u308a\u3001\u80a5\u5927\u578b\u5fc3\u7b4b\u75c7\u306e\u6539\u5584\u3084\u76ae\u819a\u75c7\u72b6\u306e\u7de9\u548c\u3001\u3055\u3089\u306b\u306f\u795e\u7d4c\u767a\u9054\u3078\u306e\u30dd\u30b8\u30c6\u30a3\u30d6\u306a\u5f71\u97ff\u304c\u5831\u544a\u3055\u308c\u59cb\u3081\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u305f\u3060\u3057\u3001\u6210\u9577\u671f\u306e\u5b50\u3069\u3082\u306b\u5bfe\u3059\u308b\u9577\u671f\u7684\u306a\u526f\u4f5c\u7528\uff08\u9aa8\u4ee3\u8b1d\u3084\u7db2\u819c\u3078\u306e\u5f71\u97ff\u306a\u3069\uff09\u306b\u3064\u3044\u3066\u306f\u614e\u91cd\u306a\u691c\u8a3c\u304c\u5fc5\u8981\u3067\u3042\u308a\u3001\u73fe\u6642\u70b9\u3067\u306f\u3042\u304f\u307e\u3067\u9069\u5fdc\u5916\u4f7f\u7528\u3084\u81e8\u5e8a\u7814\u7a76\u306e\u67a0\u7d44\u307f\u306b\u7559\u307e\u3063\u3066\u3044\u307e\u3059\u3002<\/p>\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%9ACFC3%E3%81%A8%E5%85%B1%E3%81%AB%E6%AD%A9%E3%82%80%E3%81%9F%E3%82%81%E3%81%AB\"><\/span><strong>\u7d50\u8ad6\uff1aCFC3\u3068\u5171\u306b\u6b69\u3080\u305f\u3081\u306b<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>Cardiofaciocutaneous Syndrome 3\u306f\u3001MAP2K1\u907a\u4f1d\u5b50\u306e\u5909\u7570\u3068\u3044\u3046\u30df\u30af\u30ed\u306a\u539f\u56e0\u304b\u3089\u3001\u5168\u8eab\u306b\u308f\u305f\u308b\u30de\u30af\u30ed\u306a\u75c7\u72b6\u3092\u5f15\u304d\u8d77\u3053\u3059\u8907\u96d1\u306a\u75be\u60a3\u3067\u3059\u3002\u3057\u304b\u3057\u3001\u305d\u306e\u75c5\u614b\u89e3\u660e\u306f\u6025\u901f\u306b\u9032\u3093\u3067\u304a\u308a\u3001\u304b\u3064\u3066\u306f\u300c\u539f\u56e0\u4e0d\u660e\u306e\u75c7\u5019\u7fa4\u300d\u3067\u3042\u3063\u305f\u3082\u306e\u304c\u3001\u4eca\u3084\u300c\u6a19\u7684\u3092\u5b9a\u3081\u305f\u6cbb\u7642\u300d\u306e\u5bfe\u8c61\u3078\u3068\u5909\u5316\u3057\u3064\u3064\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u6b63\u78ba\u306a\u8a3a\u65ad\u3001\u5404\u79d1\u5c02\u9580\u533b\u306e\u9023\u643a\u3001\u305d\u3057\u3066\u6700\u65b0\u306e\u7814\u7a76\u6210\u679c\u3092\u3044\u3061\u65e9\u304f\u81e8\u5e8a\u306b\u9084\u5143\u3059\u308b\u4f53\u5236\u304c\u3001CFC3\u306e\u60a3\u8005\u3055\u3093\u3068\u305d\u306e\u3054\u5bb6\u65cf\u306e\u672a\u6765\u3092\u660e\u308b\u304f\u7167\u3089\u3059\u9375\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n<!--nipt_mono-->\r\n<div 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href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/cardiofaciocutaneous-syndrome-3-map2k1-genetics\/\">\u7d9a\u304d\u3092\u8aad\u3080<\/a>","protected":false},"author":122,"featured_media":116332,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[1392],"tags":[],"class_list":["post-122799","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-1392"],"acf":[],"_links":{"self":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/122799","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/users\/122"}],"replies":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/comments?post=122799"}],"version-history":[{"count":2,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/122799\/revisions"}],"predecessor-version":[{"id":126212,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/122799\/revisions\/126212"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media\/116332"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=122799"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/categories?post=122799"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/tags?post=122799"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}