{"id":16715,"date":"2026-01-20T00:42:04","date_gmt":"2026-01-20T00:42:04","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/gene\/?post_type=genetic-screening&#038;p=16715"},"modified":"2026-01-20T05:53:22","modified_gmt":"2026-01-20T05:53:22","slug":"16q24-1-microdeletion-syndrome","status":"publish","type":"genetic-screening","link":"https:\/\/www.hiro-clinic.or.jp\/gene\/genetic-screening\/16q24-1-microdeletion-syndrome\/","title":{"rendered":"16q24.1 microdeletion syndrome"},"content":{"rendered":"\n<h2 class=\"wp-block-heading\"><strong>\u5225\u540d\u30fb\u95a2\u9023\u75be\u60a3\u540d<\/strong><\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li>16q24.1\u5fae\u7d30\u6b20\u5931\u75c7\u5019\u7fa4<\/li>\n\n\n\n<li>\u80ba\u9759\u8108\u306e\u8d70\u884c\u7570\u5e38\u3092\u4f34\u3046\u80ba\u80de\u6bdb\u7d30\u8840\u7ba1\u5f62\u6210\u4e0d\u5168\u75c7\uff08Alveolar capillary dysplasia with misalignment of pulmonary veins; ACD\/MPV\uff09\u203b1<\/li>\n\n\n\n<li>FOXF1\u95a2\u9023\u969c\u5bb3\uff08FOXF1-related disorder\uff09<\/li>\n\n\n\n<li>16q24.1\u6b20\u5931\uff08Deletion 16q24.1\uff09<\/li>\n\n\n\n<li>\u95a2\u9023\uff1aACD\/MPV\u75c7\u5019\u7fa4\uff08ACD\/MPV syndrome\uff09<\/li>\n<\/ul>\n\n\n\n<p>\u203b\u91cd\u8981\u306a\u6ce8\u91c8\uff1a<\/p>\n\n\n\n<p>16q24.1\u5fae\u7d30\u6b20\u5931\u75c7\u5019\u7fa4\u306e\u6700\u3082\u4e2d\u6838\u7684\u304b\u3064\u751f\u547d\u4e88\u5f8c\u306b\u95a2\u308f\u308b\u75c7\u72b6\u306f\u300cACD\/MPV\uff08\u80ba\u80de\u6bdb\u7d30\u8840\u7ba1\u5f62\u6210\u4e0d\u5168\u75c7\uff09\u300d\u3067\u3059\u3002\u305d\u306e\u305f\u3081\u3001\u81e8\u5e8a\u73fe\u5834\u3084\u533b\u5b66\u6587\u732e\u3067\u306f\u3001\u67d3\u8272\u4f53\u6b20\u5931\u305d\u306e\u3082\u306e\u306e\u540d\u524d\u3088\u308a\u3082\u3001\u8868\u73fe\u578b\u3067\u3042\u308b\u300cACD\/MPV\u300d\u3068\u3044\u3046\u75c5\u540d\u3067\u547c\u3070\u308c\u308b\u3053\u3068\u304c\u4e00\u822c\u7684\u3067\u3059\u3002\u672c\u8a18\u4e8b\u3067\u306f\u3001\u67d3\u8272\u4f53\u7570\u5e38\u3068\u3057\u3066\u306e\u5074\u9762\u306b\u52a0\u3048\u3001ACD\/MPV\u306e\u75c5\u614b\u306b\u3064\u3044\u3066\u3082\u8a73\u3057\u304f\u89e3\u8aac\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u5bfe\u8c61\u67d3\u8272\u4f53\u9818\u57df<\/strong><\/h2>\n\n\n\n<p><strong>16\u756a\u67d3\u8272\u4f53 \u9577\u8155\uff08q\uff0924.1\u9818\u57df<\/strong><\/p>\n\n\n\n<p>\u672c\u75be\u60a3\u306f\u3001\u30d2\u30c8\u306e16\u756a\u67d3\u8272\u4f53\u306e\u9577\u8155\uff08q\u30a2\u30fc\u30e0\uff09\u306e\u672b\u7aef\u306b\u8fd1\u3044\u300c24.1\u300d\u3068\u547c\u3070\u308c\u308b\u30d0\u30f3\u30c9\u9818\u57df\u306b\u304a\u3044\u3066\u3001DNA\u914d\u5217\u306e\u4e00\u90e8\u304c\u6b20\u5931\u3059\u308b\u3053\u3068\uff08\u30b3\u30d4\u30fc\u6570\u304c1\u3064\u306b\u306a\u308b\uff1a\u30cf\u30d7\u30ed\u4e0d\u5168\uff09\u306b\u3088\u3063\u3066\u751f\u3058\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3010\u30b2\u30ce\u30e0\u4e0a\u306e\u8a73\u7d30\u3068\u8cac\u4efb\u907a\u4f1d\u5b50\u3011<\/p>\n\n\n\n<p>\u3053\u306e\u9818\u57df\u306b\u306f\u3001\u81d3\u5668\u306e\u767a\u751f\u3084\u8840\u7ba1\u306e\u5f62\u6210\u306b\u4e0d\u53ef\u6b20\u306a\u907a\u4f1d\u5b50\u304c\u542b\u307e\u308c\u3066\u3044\u307e\u3059\u3002\u4e2d\u3067\u3082\u672c\u75c7\u5019\u7fa4\u306e\u75c7\u72b6\u5f62\u6210\u306b\u304a\u3044\u3066\u6c7a\u5b9a\u7684\u306a\u5f79\u5272\u3092\u679c\u305f\u3059\u306e\u304cFOXF1\u907a\u4f1d\u5b50\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>FOXF1 (Forkhead Box F1):<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u3053\u306e\u907a\u4f1d\u5b50\u306f\u3001\u80ce\u5150\u671f\u306b\u304a\u3051\u308b\u80ba\u3001\u6d88\u5316\u7ba1\u3001\u5fc3\u81d3\u8840\u7ba1\u7cfb\u306e\u5f62\u6210\u3092\u5236\u5fa1\u3059\u308b\u300c\u8ee2\u5199\u56e0\u5b50\uff08\u53f8\u4ee4\u5854\u3068\u306a\u308b\u30bf\u30f3\u30d1\u30af\u8cea\uff09\u300d\u3092\u4f5c\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u7279\u306b\u3001\u80ba\u306e\u4e2d\u3067\u9178\u7d20\u4ea4\u63db\u3092\u884c\u3046\u305f\u3081\u306e\u300c\u6bdb\u7d30\u8840\u7ba1\u300d\u306e\u30cd\u30c3\u30c8\u30ef\u30fc\u30af\u4f5c\u308a\u3084\u3001\u80ba\u9759\u8108\u306e\u6b63\u3057\u3044\u30eb\u30fc\u30c8\u5f62\u6210\u306b\u4e0d\u53ef\u6b20\u3067\u3059\u3002<\/li>\n\n\n\n<li>16q24.1\u6b20\u5931\u306b\u3088\u308a<em>FOXF1<\/em>\u907a\u4f1d\u5b50\u304c\u7247\u65b9\u5931\u308f\u308c\u308b\uff08\u30cf\u30d7\u30ed\u4e0d\u5168\uff09\u3068\u3001\u80ba\u306e\u8840\u7ba1\u304c\u6b63\u3057\u304f\u4f5c\u3089\u308c\u305a\u3001\u81f4\u6b7b\u7684\u306a\u547c\u5438\u4e0d\u5168\u3092\u5f15\u304d\u8d77\u3053\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>FOX gene cluster:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u3053\u306e\u9818\u57df\u306b\u306f<em>FOXF1<\/em>\u306e\u4ed6\u306b\u3001<em>MMP21<\/em>\u3001<em>FOXC2<\/em>\u3001<em>FOXL1<\/em>\u306a\u3069\u306e\u907a\u4f1d\u5b50\u3082\u8fd1\u63a5\u3057\u3066\u5b58\u5728\u3057\u3066\u304a\u308a\u3001\u6b20\u5931\u306e\u7bc4\u56f2\u306b\u3088\u3063\u3066\u306f\u3053\u308c\u3089\u306e\u907a\u4f1d\u5b50\u3082\u4e00\u7dd2\u306b\u5931\u308f\u308c\u3001\u8907\u5408\u7684\u306a\u75c7\u72b6\uff08\u96a3\u63a5\u907a\u4f1d\u5b50\u75c7\u5019\u7fa4\uff09\u3092\u5448\u3059\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u30a8\u30f3\u30cf\u30f3\u30b5\u30fc\u9818\u57df\u306e\u6b20\u5931:<\/strong><\/li>\n<\/ul>\n\n\n\n<p><em>FOXF1<\/em>\u907a\u4f1d\u5b50\u305d\u306e\u3082\u306e\u306f\u6b8b\u3063\u3066\u3044\u3066\u3082\u3001\u305d\u306e\u5c11\u3057\u96e2\u308c\u305f\u5834\u6240\u306b\u3042\u308b\u300c\u8abf\u7bc0\u9818\u57df\uff08\u30a8\u30f3\u30cf\u30f3\u30b5\u30fc\uff09\u300d\u3060\u3051\u304c\u6b20\u5931\u3057\u305f\u5834\u5408\u3067\u3082\u3001<em>FOXF1<\/em>\u304c\u6b63\u3057\u304f\u50cd\u304b\u305a\u3001\u540c\u69d8\u306e\u75c7\u72b6\uff08ACD\/MPV\uff09\u3092\u767a\u75c7\u3059\u308b\u3053\u3068\u304c\u77e5\u3089\u308c\u3066\u3044\u307e\u3059\u3002\u3053\u308c\u308216q24.1\u5fae\u7d30\u6b20\u5931\u75c7\u5019\u7fa4\u306e\u30d0\u30ea\u30a8\u30fc\u30b7\u30e7\u30f3\u306e\u4e00\u3064\u3068\u3057\u3066\u91cd\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u767a\u751f\u983b\u5ea6<\/strong><\/h2>\n\n\n\n<p><strong>\u975e\u5e38\u306b\u7a00\uff08Rare\uff09<\/strong><\/p>\n\n\n\n<p>\u6b63\u78ba\u306a\u767a\u751f\u983b\u5ea6\u306f\u78ba\u7acb\u3055\u308c\u3066\u3044\u307e\u305b\u3093\u304c\u3001\u5e0c\u5c11\u75be\u60a3\u306e\u4e2d\u3067\u3082\u7a00\u306a\u90e8\u985e\u306b\u5165\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u4e3b\u8981\u306a\u8868\u73fe\u578b\u3067\u3042\u308bACD\/MPV\u306e\u983b\u5ea6\u304b\u3089\u63a8\u6e2c\u3059\u308b\u3068\u3001\u51fa\u751f10\u4e07\u4eba\u306b1\u4eba\u672a\u6e80\u3068\u8003\u3048\u3089\u308c\u307e\u3059\u304c\u3001\u8a3a\u65ad\u306b\u81f3\u3089\u305a\u306b\u4ea1\u304f\u306a\u308b\uff08\u539f\u56e0\u4e0d\u660e\u306e\u65b0\u751f\u5150\u6b7b\u4ea1\u3084\u3001\u7279\u767a\u6027\u65b0\u751f\u5150\u9077\u5ef6\u6027\u80ba\u9ad8\u8840\u5727\u75c7\u3068\u8a3a\u65ad\u3055\u308c\u3066\u3044\u308b\uff09\u30b1\u30fc\u30b9\u3082\u6f5c\u5728\u7684\u306b\u5b58\u5728\u3059\u308b\u3068\u8003\u3048\u3089\u308c\u308b\u305f\u3081\u3001\u5b9f\u969b\u306b\u306f\u3082\u3046\u5c11\u3057\u591a\u3044\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u81e8\u5e8a\u7684\u7279\u5fb4\uff08\u75c7\u72b6\uff09<\/strong><\/h2>\n\n\n\n<p>16q24.1\u5fae\u7d30\u6b20\u5931\u75c7\u5019\u7fa4\u306e\u75c7\u72b6\u306f\u3001\u591a\u81d3\u5668\u306b\u308f\u305f\u308b\u5f62\u6210\u7570\u5e38\u304c\u7279\u5fb4\u3067\u3059\u304c\u3001\u4e2d\u3067\u3082\u300c\u547c\u5438\u5668\u300d\u300c\u6d88\u5316\u5668\u300d\u300c\u5faa\u74b0\u5668\u300d\u306e3\u3064\u306e\u30b7\u30b9\u30c6\u30e0\u306b\u91cd\u5927\u306a\u5f71\u97ff\u304c\u51fa\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u547c\u5438\u5668\u75c7\u72b6\uff08\u6700\u91cd\u75c7\u30fb\u4e2d\u6838\u75c7\u72b6\uff09<\/strong><\/p>\n\n\n\n<p>\u307b\u307c\u5168\u4f8b\u3067\u898b\u3089\u308c\u308b\u3001\u672c\u75c7\u5019\u7fa4\u306e\u6700\u5927\u306e\u7279\u5fb4\u3067\u3042\u308a\u3001\u751f\u547d\u4e88\u5f8c\u3092\u5de6\u53f3\u3059\u308b\u75c7\u72b6\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>ACD\/MPV\uff08\u80ba\u80de\u6bdb\u7d30\u8840\u7ba1\u5f62\u6210\u4e0d\u5168\u75c7\u30fb\u80ba\u9759\u8108\u8d70\u884c\u7570\u5e38\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>\u75c5\u614b:<\/strong> \u80ba\u306e\u4e2d\u3067\u3001\u7a7a\u6c17\uff08\u9178\u7d20\uff09\u3092\u53d6\u308a\u8fbc\u3080\u300c\u80ba\u80de\u300d\u3068\u3001\u8840\u6db2\u4e2d\u306e\u30ac\u30b9\u4ea4\u63db\u3092\u884c\u3046\u300c\u6bdb\u7d30\u8840\u7ba1\u300d\u306e\u63a5\u89e6\u9762\u7a4d\u304c\u6975\u7aef\u306b\u5c11\u306a\u3044\u3001\u3042\u308b\u3044\u306f\u6bdb\u7d30\u8840\u7ba1\u81ea\u4f53\u304c\u5f62\u6210\u4e0d\u5168\u3092\u8d77\u3053\u3057\u3066\u3044\u307e\u3059\u3002\u3055\u3089\u306b\u3001\u901a\u5e38\u3067\u3042\u308c\u3070\u52d5\u8108\u3068\u306f\u96e2\u308c\u3066\u8d70\u884c\u3059\u308b\u306f\u305a\u306e\u300c\u80ba\u9759\u8108\u300d\u304c\u3001\u80ba\u52d5\u8108\u306b\u5bc4\u308a\u6dfb\u3063\u3066\u8d70\u884c\u3059\u308b\uff08Misalignment\uff09\u3068\u3044\u3046\u7570\u5e38\u304c\u898b\u3089\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u81e8\u5e8a\u7d4c\u904e:<\/strong> \u51fa\u751f\u76f4\u5f8c\u306f\u7523\u58f0\u3092\u4e0a\u3052\u3001\u30a2\u30d7\u30ac\u30fc\u30b9\u30b3\u30a2\uff08\u65b0\u751f\u5150\u306e\u5143\u6c17\u3055\u306e\u6307\u6a19\uff09\u3082\u826f\u597d\u306a\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u304c\u3001\u751f\u5f8c\u6570\u6642\u9593\u304b\u3089\u6570\u65e5\u4ee5\u5185\u306b\u6025\u6fc0\u306b\u30c1\u30a2\u30ce\u30fc\u30bc\uff08\u9854\u8272\u304c\u60aa\u3044\uff09\u3001\u591a\u547c\u5438\u3001\u547c\u5438\u56f0\u96e3\u304c\u51fa\u73fe\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u96e3\u6cbb\u6027\u80ba\u9ad8\u8840\u5727\u75c7\uff08PPHN\uff09:<\/strong> \u80ba\u306e\u8840\u7ba1\u62b5\u6297\u304c\u4e0b\u304c\u3089\u305a\u3001\u8840\u6db2\u304c\u80ba\u306b\u3046\u307e\u304f\u6d41\u308c\u306a\u3044\u72b6\u614b\u306b\u306a\u308a\u307e\u3059\u3002\u901a\u5e38\u306ePPHN\u3067\u3042\u308c\u3070\u4e00\u9178\u5316\u7a92\u7d20\uff08iNO\uff09\u5438\u5165\u7642\u6cd5\u306a\u3069\u304c\u52b9\u304d\u307e\u3059\u304c\u3001\u672c\u75be\u60a3\u306e\u5834\u5408\u306f<strong>\u6cbb\u7642\u53cd\u5fdc\u6027\u304c\u4e4f\u3057\u3044<\/strong>\u3053\u3068\u304c\u7279\u5fb4\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u6d88\u5316\u5668\u75c7\u72b6<\/strong><\/p>\n\n\n\n<p>\u7d0450\u301c80%\u306e\u60a3\u8005\u3055\u3093\u306b\u6d88\u5316\u7ba1\u306e\u7570\u5e38\uff08GIT anomalies\uff09\u304c\u5408\u4f75\u3057\u307e\u3059\u3002\u547c\u5438\u5668\u75c7\u72b6\u306b\u6b21\u3044\u3067\u91cd\u8981\u306a\u7279\u5fb4\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u8178\u56de\u8ee2\u7570\u5e38\u75c7:<\/strong> \u8178\u306e\u914d\u7f6e\u304c\u751f\u307e\u308c\u3064\u304d\u7570\u5e38\u306a\u72b6\u614b\u3067\u3001\u8178\u637b\u8ee2\uff08\u8178\u304c\u306d\u3058\u308c\u3066\u58ca\u6b7b\u3059\u308b\uff09\u306e\u30ea\u30b9\u30af\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5341\u4e8c\u6307\u8178\u9589\u9396\u30fb\u72ed\u7a84:<\/strong> \u80c3\u306e\u51fa\u53e3\u304c\u8a70\u307e\u3063\u3066\u3044\u308b\u72b6\u614b\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u305d\u306e\u4ed6\u306e\u7570\u5e38:<\/strong> \u76f4\u8178\u809b\u9580\u5947\u5f62\uff08\u9396\u809b\uff09\u3001\u30d2\u30eb\u30b7\u30e5\u30b9\u30d7\u30eb\u30f3\u30b0\u75c5\u3001\u80c6\u9053\u9589\u9396\u75c7\u3001\u77ed\u8178\u75c7\u5019\u7fa4\u306a\u3069\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u3053\u308c\u3089\u306f<em>FOXF1<\/em>\u907a\u4f1d\u5b50\u304c\u6d88\u5316\u7ba1\u306e\u767a\u751f\u306b\u3082\u95a2\u4e0e\u3057\u3066\u3044\u308b\u305f\u3081\u3067\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u5faa\u74b0\u5668\uff08\u5fc3\u81d3\uff09\u75c7\u72b6<\/strong><\/p>\n\n\n\n<p>\u7d0440\u301c50%\u306b\u5148\u5929\u6027\u5fc3\u75be\u60a3\u304c\u5408\u4f75\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u69cb\u9020\u7570\u5e38:<\/strong> \u5de6\u5fc3\u4f4e\u5f62\u6210\u75c7\u5019\u7fa4\uff08HLHS\uff09\u3001\u5927\u52d5\u8108\u7e2e\u7a84\u75c7\u3001\u5fc3\u5ba4\u4e2d\u9694\u6b20\u640d\u75c7\uff08VSD\uff09\u3001\u5fc3\u623f\u4e2d\u9694\u6b20\u640d\u75c7\uff08ASD\uff09\u3001\u30d5\u30a1\u30ed\u30fc\u56db\u5fb4\u75c7\u306a\u3069\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li>16q24.1\u9818\u57df\u306e\u6b20\u5931\u306f\u3001\u5fc3\u81d3\u306e\u6d41\u51fa\u8def\u5f62\u6210\u306b\u95a2\u308f\u308b\u7d30\u80de\u306e\u79fb\u52d5\u306b\u5f71\u97ff\u3092\u4e0e\u3048\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>4. \u6ccc\u5c3f\u5668\u30fb\u305d\u306e\u4ed6\u306e\u75c7\u72b6<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u6ccc\u5c3f\u5668:<\/strong> \u6c34\u814e\u75c7\u3001\u5c3f\u7ba1\u306e\u7570\u5e38\u306a\u3069\u304c\u7d0420%\u7a0b\u5ea6\u306b\u898b\u3089\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u9854\u8c8c:<\/strong> \u7279\u7570\u7684\u306a\u9854\u8c8c\uff08Dysmorphism\uff09\u306f\u76ee\u7acb\u305f\u306a\u3044\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u304c\u3001\u773c\u9593\u958b\u96e2\u3001\u8033\u306e\u5f62\u306e\u7570\u5e38\u3001\u5e73\u5766\u306a\u9f3b\u6881\u306a\u3069\u304c\u5831\u544a\u3055\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>\u6210\u9577:<\/strong> \u80ce\u5185\u767a\u80b2\u4e0d\u5168\uff08\u5c0f\u3055\u304f\u751f\u307e\u308c\u308b\uff09\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u539f\u56e0<\/strong><\/h2>\n\n\n\n<p>16\u756a\u67d3\u8272\u4f53\u9577\u8155\uff0816q24.1\uff09\u306e\u5fae\u7d30\u6b20\u5931\u306b\u3088\u308b\u3001FOXF1\u907a\u4f1d\u5b50\u306e\u6a5f\u80fd\u4e0d\u5168\uff08\u30cf\u30d7\u30ed\u4e0d\u5168\uff09\u304c\u539f\u56e0\u3067\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u767a\u751f\u30e1\u30ab\u30cb\u30ba\u30e0\u306e\u8a73\u7d30<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u8840\u7ba1\u65b0\u751f\u306e\u5931\u6557:<br>\u901a\u5e38\u3001\u80ce\u5150\u306e\u80ba\u304c\u4f5c\u3089\u308c\u308b\u904e\u7a0b\u3067\u306f\u3001FOXF1\u30bf\u30f3\u30d1\u30af\u8cea\u304c\u6307\u4ee4\u3092\u51fa\u3057\u3001\u80ba\u80de\u306e\u5468\u308a\u306b\u6bdb\u7d30\u8840\u7ba1\u306e\u7db2\u76ee\u3092\u4f5c\u308a\u307e\u3059\u3002\u3057\u304b\u3057\u3001\u907a\u4f1d\u5b50\u306e\u6b20\u5931\u306b\u3088\u308a\u3053\u306e\u30bf\u30f3\u30d1\u30af\u8cea\u304c\u4e0d\u8db3\u3059\u308b\u3068\u3001\u8840\u7ba1\u7db2\u304c\u5341\u5206\u306b\u4f5c\u3089\u308c\u307e\u305b\u3093\u3002<\/li>\n\n\n\n<li>\u30ac\u30b9\u4ea4\u63db\u306e\u4e0d\u80fd:<br>\u8840\u7ba1\u304c\u306a\u3044\u305f\u3081\u3001\u3044\u304f\u3089\u80ba\u306b\u7a7a\u6c17\u3092\u9001\u308a\u8fbc\u3093\u3067\u3082\u3001\u8840\u6db2\u306b\u9178\u7d20\u3092\u53d6\u308a\u8fbc\u3080\u3053\u3068\u304c\u3067\u304d\u307e\u305b\u3093\uff08\u30ac\u30b9\u4ea4\u63db\u969c\u5bb3\uff09\u3002\u3053\u308c\u304c\u3001\u4eba\u5de5\u547c\u5438\u5668\u3084\u9178\u7d20\u6295\u4e0e\u3092\u884c\u3063\u3066\u3082\u30c1\u30a2\u30ce\u30fc\u30bc\u304c\u6539\u5584\u3057\u306a\u3044\u6839\u672c\u7684\u306a\u7406\u7531\u3067\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u907a\u4f1d\u5f62\u5f0f<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>De novo\uff08\u65b0\u751f\u7a81\u7136\u5909\u7570\uff09:<br>\u591a\u304f\u306e\u75c7\u4f8b\u306f\u3001\u4e21\u89aa\u304b\u3089\u306e\u907a\u4f1d\u3067\u306f\u306a\u304f\u3001\u60a3\u8005\u3055\u3093\u672c\u4eba\u3067\u521d\u3081\u3066\u767a\u751f\u3057\u305f\u7a81\u7136\u5909\u7570\u3067\u3059\u3002\u3053\u306e\u5834\u5408\u3001\u4e21\u89aa\u306e\u67d3\u8272\u4f53\u306f\u6b63\u5e38\u3067\u3042\u308a\u3001\u6b21\u5b50\u3078\u306e\u518d\u767a\u30ea\u30b9\u30af\u306f\u4f4e\u3044\u3067\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p>\u5bb6\u65cf\u6027\uff08\u6bcd\u89aa\u306e\u4f53\u7d30\u80de\u30e2\u30b6\u30a4\u30af\uff09:<br>\u3053\u3053\u304c\u975e\u5e38\u306b\u91cd\u8981\u306a\u30dd\u30a4\u30f3\u30c8\u3067\u3059\u3002<br>\u4e00\u90e8\u306e\u75c7\u4f8b\u3067\u306f\u3001\u6bcd\u89aa\u304c\u300c\u4f53\u7d30\u80de\u30e2\u30b6\u30a4\u30af\uff08\u4f53\u306e\u4e00\u90e8\u306e\u7d30\u80de\u3060\u3051\u304c\u6b20\u5931\u3092\u6301\u3063\u3066\u3044\u308b\uff09\u300d\u306e\u72b6\u614b\u3067\u3042\u308b\u3053\u3068\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u6bcd\u89aa\u81ea\u8eab\u306f\u5065\u5eb7\u3001\u3042\u308b\u3044\u306f\u8efd\u5fae\u306a\u75c7\u72b6\u3057\u304b\u306a\u3044\u305f\u3081\u6c17\u3065\u304b\u308c\u307e\u305b\u3093\u304c\u3001\u5375\u5b50\u306b\u306f\u6b20\u5931\u304c\u53d7\u3051\u7d99\u304c\u308c\u3066\u3044\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002<br>FOXF1\u907a\u4f1d\u5b50\u5468\u8fba\u306b\u306f\u3001\u300c\u30b2\u30ce\u30e0\u5237\u308a\u8fbc\u307f\uff08\u30a4\u30f3\u30d7\u30ea\u30f3\u30c6\u30a3\u30f3\u30b0\uff09\u300d\u306e\u3088\u3046\u306a\u8907\u96d1\u306a\u5236\u5fa1\u6a5f\u69cb\uff08\u7279\u306b\u6bcd\u6027\u7531\u6765\u306e\u67d3\u8272\u4f53\u4e0a\u306e\u6b20\u5931\u304c\u91cd\u7be4\u5316\u3057\u3084\u3059\u3044\u3068\u3044\u3046\u5831\u544a\u3084\u3001\u4e0a\u6d41\u306e\u8abf\u7bc0\u9818\u57df\u306e\u89aa\u7531\u6765\u7279\u7570\u7684\u306a\u5f71\u97ff\u306a\u3069\uff09\u304c\u95a2\u4e0e\u3057\u3066\u3044\u308b\u53ef\u80fd\u6027\u304c\u793a\u5506\u3055\u308c\u3066\u304a\u308a\u3001\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3067\u306f\u8a73\u7d30\u306a\u89e3\u6790\uff08\u89aa\u306e\u691c\u67fb\uff09\u304c\u63a8\u5968\u3055\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u8a3a\u65ad\u65b9\u6cd5<\/strong><\/h2>\n\n\n\n<p>\u4e00\u822c\u7684\u306a\u67d3\u8272\u4f53\u691c\u67fb\uff08G\u30d0\u30f3\u30c9\u6cd5\uff09\u3067\u306f\u6b20\u5931\u304c\u5c0f\u3055\u3059\u304e\u3066\u691c\u51fa\u3067\u304d\u306a\u3044\u3053\u3068\u304c\u591a\u3044\u305f\u3081\u3001\u4ee5\u4e0b\u306e\u691c\u67fb\u304c\u884c\u308f\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<ol class=\"wp-block-list\">\n<li>\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u67d3\u8272\u4f53\u691c\u67fb\uff08CMA\uff09:<br>16q24.1\u9818\u57df\u306e\u5fae\u7d30\u306a\u6b20\u5931\uff08\u30b3\u30d4\u30fc\u6570\u5909\u5316\uff09\u3092\u691c\u51fa\u3059\u308b\u306e\u306b\u6700\u3082\u6709\u52b9\u306a\u65b9\u6cd5\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u907a\u4f1d\u5b50\u30d1\u30cd\u30eb\u691c\u67fb \/ \u5168\u30a8\u30af\u30bd\u30fc\u30e0\u89e3\u6790:<br>FOXF1\u907a\u4f1d\u5b50\u305d\u306e\u3082\u306e\u306e\u70b9\u5909\u7570\u306a\u3069\u3082\u542b\u3081\u3066\u7db2\u7f85\u7684\u306b\u8abf\u3079\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u80ba\u751f\u691c\u30fb\u75c5\u7406\u7d44\u7e54\u691c\u67fb\uff08\u78ba\u5b9a\u8a3a\u65ad\uff09:<br>\u751f\u524d\u8a3a\u65ad\u306f\u96e3\u3057\u3044\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u304c\u3001\u80ba\u306e\u7d44\u7e54\u3092\u9855\u5fae\u93e1\u3067\u8abf\u3079\u308b\u3053\u3068\u3067\u3001\u7279\u5fb4\u7684\u306a\u300c\u80ba\u9759\u8108\u306e\u8d70\u884c\u7570\u5e38\uff08MPV\uff09\u300d\u3084\u300c\u6bdb\u7d30\u8840\u7ba1\u306e\u6b20\u5982\u300d\u3092\u78ba\u8a8d\u3057\u3001\u78ba\u5b9a\u8a3a\u65ad\u3068\u3057\u307e\u3059\uff08\u73fe\u5728\u306f\u907a\u4f1d\u5b66\u7684\u691c\u67fb\u304c\u512a\u5148\u3055\u308c\u308b\u50be\u5411\u306b\u3042\u308a\u307e\u3059\uff09\u3002<\/li>\n<\/ol>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u6cbb\u7642\u65b9\u6cd5<\/strong><\/h2>\n\n\n\n<p>16q24.1\u5fae\u7d30\u6b20\u5931\u75c7\u5019\u7fa4\uff08\u7279\u306bACD\/MPV\u3092\u767a\u75c7\u3057\u3066\u3044\u308b\u5834\u5408\uff09\u306b\u5bfe\u3059\u308b\u3001\u6839\u672c\u7684\u306a\u907a\u4f1d\u5b50\u6cbb\u7642\u6cd5\u306f\u73fe\u6642\u70b9\u3067\u306f\u78ba\u7acb\u3055\u308c\u3066\u3044\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u75c5\u614b\u304c\u6975\u3081\u3066\u91cd\u7be4\u3067\u3042\u308b\u305f\u3081\u3001\u6cbb\u7642\u306e\u4e3b\u4f53\u306f\u751f\u547d\u7dad\u6301\u306e\u305f\u3081\u306e\u96c6\u4e2d\u6cbb\u7642\u3068\u3001\u3054\u5bb6\u65cf\u3078\u306e\u30b1\u30a2\uff08\u7de9\u548c\u30b1\u30a2\u30fb\u610f\u601d\u6c7a\u5b9a\u652f\u63f4\uff09\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u6025\u6027\u671f\u306e\u547c\u5438\u5faa\u74b0\u7ba1\u7406<\/strong><\/p>\n\n\n\n<p>\u51fa\u751f\u76f4\u5f8c\u306e\u91cd\u7be4\u306a\u547c\u5438\u4e0d\u5168\u306b\u5bfe\u3057\u3066\u3001\u65b0\u751f\u5150\u96c6\u4e2d\u6cbb\u7642\u5ba4\uff08NICU\uff09\u3067\u6700\u9ad8\u30ec\u30d9\u30eb\u306e\u6cbb\u7642\u304c\u884c\u308f\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u4eba\u5de5\u547c\u5438\u7ba1\u7406:<\/strong> \u9ad8\u983b\u5ea6\u632f\u52d5\u63db\u6c17\uff08HFO\uff09\u306a\u3069\u3092\u7528\u3044\u307e\u3059\u304c\u3001\u6539\u5584\u306f\u9650\u5b9a\u7684\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u4e00\u9178\u5316\u7a92\u7d20\uff08iNO\uff09\u5438\u5165\u7642\u6cd5:<\/strong> \u80ba\u8840\u7ba1\u3092\u5e83\u3052\u308b\u6cbb\u7642\u3067\u3059\u304c\u3001\u672c\u75be\u60a3\u3067\u306f\u8840\u7ba1\u81ea\u4f53\u304c\u5f62\u6210\u3055\u308c\u3066\u3044\u306a\u3044\u305f\u3081\u3001\u52b9\u679c\u306f\u4e00\u6642\u7684\u307e\u305f\u306f\u7121\u52b9\u306a\u3053\u3068\u304c\u591a\u3044\u3067\u3059\uff08\u300ciNO\u4e0d\u5fdc\u6027\u306e\u80ba\u9ad8\u8840\u5727\u300d\u304c\u8a3a\u65ad\u306e\u304d\u3063\u304b\u3051\u306b\u306a\u308a\u307e\u3059\uff09\u3002<\/li>\n\n\n\n<li><strong>\u4f53\u5916\u5f0f\u819c\u578b\u4eba\u5de5\u80ba\uff08ECMO\uff09:<\/strong> \u5fc3\u80ba\u6a5f\u80fd\u3092\u4ee3\u884c\u3059\u308b\u88c5\u7f6e\u3067\u3059\u3002\u4e00\u6642\u7684\u306b\u751f\u547d\u3092\u7dad\u6301\u3057\u3001\u8a3a\u65ad\u3092\u3064\u3051\u308b\u305f\u3081\u306e\u6642\u9593\u7a3c\u304e\u3084\u3001\u80ba\u79fb\u690d\u3078\u306e\u30d6\u30ea\u30c3\u30b8\u3068\u3057\u3066\u4f7f\u7528\u3055\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u5916\u79d1\u7684\u6cbb\u7642<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u80ba\u79fb\u690d:<br>ACD\/MPV\u306b\u5bfe\u3059\u308b\u552f\u4e00\u306e\u6839\u6cbb\u7684\u306a\u6cbb\u7642\u6cd5\u306f\u300c\u80ba\u79fb\u690d\u300d\u3067\u3059\u3002\u3057\u304b\u3057\u3001\u30c9\u30ca\u30fc\u4e0d\u8db3\u3084\u3001\u65b0\u751f\u5150\u30fb\u4e73\u5150\u306b\u5bfe\u3059\u308b\u80ba\u79fb\u690d\u306e\u6280\u8853\u7684\u306a\u96e3\u6613\u5ea6\u3001\u304a\u3088\u3073\u4ed6\u306e\u81d3\u5668\u5408\u4f75\u75c7\uff08\u8178\u3084\u5fc3\u81d3\u306a\u3069\uff09\u306e\u554f\u984c\u304c\u3042\u308b\u305f\u3081\u3001\u5b9f\u65bd\u3067\u304d\u308b\u30b1\u30fc\u30b9\u306f\u4e16\u754c\u7684\u306b\u898b\u3066\u3082\u6975\u3081\u3066\u9650\u5b9a\u7684\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u6d88\u5316\u7ba1\u624b\u8853:<br>\u8178\u56de\u8ee2\u7570\u5e38\u75c7\u3084\u6d88\u5316\u7ba1\u9589\u9396\u304c\u3042\u308b\u5834\u5408\u3001\u624b\u8853\u304c\u884c\u308f\u308c\u307e\u3059\u304c\u3001\u547c\u5438\u72b6\u614b\u304c\u5b89\u5b9a\u3057\u3066\u3044\u308b\u3053\u3068\u304c\u524d\u63d0\u3068\u306a\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u652f\u6301\u7642\u6cd5\u3068\u7de9\u548c\u30b1\u30a2<\/strong><\/p>\n\n\n\n<p>\u591a\u304f\u306e\u75c7\u4f8b\u306b\u304a\u3044\u3066\u3001\u75c5\u72b6\u306f\u9032\u884c\u6027\u304b\u3064\u81f4\u6b7b\u7684\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5305\u62ec\u7684\u306a\u30b1\u30a2:<\/strong> \u7a4d\u6975\u7684\u306a\u6cbb\u7642\u306e\u9650\u754c\u304c\u898b\u3048\u305f\u5834\u5408\u3001\u82e6\u75db\u3092\u53d6\u308a\u9664\u304f\u305f\u3081\u306e\u7de9\u548c\u30b1\u30a2\u3078\u79fb\u884c\u3059\u308b\u9078\u629e\u80a2\u306b\u3064\u3044\u3066\u3082\u3001\u533b\u7642\u30c1\u30fc\u30e0\u3068\u3054\u5bb6\u65cf\u3067\u8a71\u3057\u5408\u308f\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u591a\u8077\u7a2e\u9023\u643a:<\/strong> \u533b\u5e2b\u3001\u770b\u8b77\u5e2b\u3001\u81e8\u5e8a\u5fc3\u7406\u58eb\u3001\u30bd\u30fc\u30b7\u30e3\u30eb\u30ef\u30fc\u30ab\u30fc\u3001\u8a8d\u5b9a\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30e9\u30fc\u306a\u3069\u304c\u30c1\u30fc\u30e0\u3068\u306a\u308a\u3001\u77ed\u3044\u6642\u9593\u3067\u3042\u3063\u3066\u3082\u3054\u5bb6\u65cf\u304c\u304a\u5b50\u3055\u3093\u3068\u904e\u3054\u305b\u308b\u6642\u9593\u3092\u5927\u5207\u306b\u3057\u3001\u5fc3\u7406\u7684\u306a\u30b5\u30dd\u30fc\u30c8\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>4. \u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u6b21\u5b50\u306e\u598a\u5a20\u3092\u8003\u3048\u3066\u3044\u308b\u3054\u5bb6\u65cf\u306b\u3068\u3063\u3066\u3001\u907a\u4f1d\u60c5\u5831\u306e\u63d0\u4f9b\u306f\u975e\u5e38\u306b\u91cd\u8981\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u89aa\u306e\u691c\u67fb\uff08\u7279\u306b\u6bcd\u89aa\u306e\u30e2\u30b6\u30a4\u30af\u306e\u6709\u7121\uff09\u3092\u884c\u3044\u3001\u6b63\u78ba\u306a\u518d\u767a\u30ea\u30b9\u30af\u8a55\u4fa1\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u307e\u3068\u3081<\/strong><\/h2>\n\n\n\n<p>16q24.1 microdeletion syndrome\u306f\u300116\u756a\u67d3\u8272\u4f53\u306e\u4e00\u90e8\uff08FOXF1\u907a\u4f1d\u5b50\u306a\u3069\uff09\u304c\u6b20\u5931\u3059\u308b\u3053\u3068\u3067\u3001\u80ba\u306e\u8840\u7ba1\u304c\u6b63\u3057\u304f\u4f5c\u3089\u308c\u306a\u3044\u300cACD\/MPV\u300d\u3068\u3044\u3046\u75c5\u614b\u3092\u5f15\u304d\u8d77\u3053\u3059\u91cd\u7be4\u306a\u75be\u60a3\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u300c\u5143\u6c17\u3067\u751f\u307e\u308c\u305f\u306f\u305a\u306e\u8d64\u3061\u3083\u3093\u304c\u3001\u6025\u306b\u547c\u5438\u304c\u3067\u304d\u306a\u304f\u306a\u308b\u300d\u3068\u3044\u3046\u7d4c\u904e\u306f\u3001\u3054\u5bb6\u65cf\u306b\u3068\u3063\u3066\u3042\u307e\u308a\u306b\u7a81\u7136\u3067\u3001\u53d7\u3051\u5165\u308c\u304c\u305f\u3044\u5927\u304d\u306a\u885d\u6483\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u73fe\u5728\u3001\u533b\u5b66\u7684\u306a\u5b8c\u6cbb\u306f\u96e3\u3057\u3044\u72b6\u6cc1\u3067\u3059\u304c\u3001\u8a3a\u65ad\u6280\u8853\u306e\u9032\u6b69\u306b\u3088\u308a\u3001\u65e9\u671f\u306b\u539f\u56e0\u3092\u7279\u5b9a\u3067\u304d\u308b\u3088\u3046\u306b\u306a\u3063\u3066\u304d\u3066\u3044\u307e\u3059\u3002\u3053\u308c\u306b\u3088\u308a\u3001\u4e0d\u5fc5\u8981\u306a\u4fb5\u8972\u7684\u6cbb\u7642\u3092\u907f\u3051\u305f\u308a\u3001\u3054\u5bb6\u65cf\u304c\u7d0d\u5f97\u3067\u304d\u308b\u5f62\u3067\u306e\u30b1\u30a2\u3092\u9078\u629e\u3057\u305f\u308a\u3059\u308b\u3053\u3068\u304c\u53ef\u80fd\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u5e0c\u5c11\u306a\u75be\u60a3\u3067\u3059\u304c\u3001\u4e16\u754c\u4e2d\u3067\u7814\u7a76\u304c\u9032\u3081\u3089\u308c\u3066\u304a\u308a\u3001\u75c5\u614b\u306e\u89e3\u660e\u3084\u79fb\u690d\u533b\u7642\u306e\u9032\u6b69\u306b\u671f\u5f85\u304c\u5bc4\u305b\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u53c2\u8003\u6587\u732e<\/strong><\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>Dharmadhikari AV, et al.<\/strong> (2014). Genomic analysis of genomic rearrangements and coding variants in <em>FOXF1<\/em> in alveolar capillary dysplasia with misalignment of pulmonary veins. <em>Journal of Medical Genetics<\/em>, 51(12), 715-724.\n<ul class=\"wp-block-list\">\n<li>(\u203b16q24.1\u9818\u57df\u306e\u6b20\u5931\u3001FOXF1\u5909\u7570\u3001\u304a\u3088\u3073\u30a8\u30f3\u30cf\u30f3\u30b5\u30fc\u6b20\u5931\u304cACD\/MPV\u3092\u5f15\u304d\u8d77\u3053\u3059\u3053\u3068\u3092\u5305\u62ec\u7684\u306b\u89e3\u6790\u3057\u305f\u91cd\u8981\u8ad6\u6587\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Stankiewicz P, et al.<\/strong> (2009). Genomic and genic deletions of the <em>FOX<\/em> gene cluster on 16q24.1 and inactivating mutations of <em>FOXF1<\/em> cause alveolar capillary dysplasia and other malformations. <em>American Journal of Human Genetics<\/em>, 84(6), 780-791.\n<ul class=\"wp-block-list\">\n<li>(\u203bFOXF1\u304cACD\/MPV\u306e\u539f\u56e0\u907a\u4f1d\u5b50\u3067\u3042\u308b\u3053\u3068\u3092\u7279\u5b9a\u3057\u305f\u8a18\u5ff5\u7891\u7684\u306a\u8ad6\u6587\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Sen P, et al.<\/strong> (2013). <em>FOXF1<\/em> transcription factor: a molecular gatekeeper of pulmonary morphogenesis.\n<ul class=\"wp-block-list\">\n<li>(\u203bFOXF1\u304c\u80ba\u306e\u767a\u751f\u306b\u3069\u306e\u3088\u3046\u306b\u95a2\u308f\u308b\u304b\u3092\u89e3\u8aac\u3057\u305f\u30ec\u30d3\u30e5\u30fc\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>GeneReviews\u00ae [Internet]<\/strong>: Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins. Initial Posting: February 13, 2014; Last Update: March 11, 2021. <em>Authors: Bishop NB, Stankiewicz P, Steinhorn RH.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203bACD\/MPV\uff0816q24.1\u6b20\u5931\u3092\u542b\u3080\uff09\u306e\u81e8\u5e8a\u30de\u30cd\u30b8\u30e1\u30f3\u30c8\u3001\u907a\u4f1d\u5b66\u3001\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u306b\u95a2\u3059\u308b\u6700\u3082\u4fe1\u983c\u3067\u304d\u308b\u5305\u62ec\u7684\u30ac\u30a4\u30c9\u30e9\u30a4\u30f3\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Szafranski P, et al.<\/strong> (2013). High-resolution mapping of the 16q24.1 <em>FOXF1<\/em> enhancer and characterization of the clinical phenotype in patients with 16q24.1 microdeletions.\n<ul class=\"wp-block-list\">\n<li>(\u203b\u30a8\u30f3\u30cf\u30f3\u30b5\u30fc\u9818\u57df\u306e\u6b20\u5931\u3068\u81e8\u5e8a\u50cf\u306e\u95a2\u9023\u306b\u3064\u3044\u3066\u306e\u8a73\u7d30\u306a\u7814\u7a76\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>ClinGen Dosage Sensitivity Curation<\/strong>: <em>FOXF1<\/em> (Haploinsufficiency score: 3 &#8211; Sufficient evidence).\n<ul class=\"wp-block-list\">\n<li>(FOXF1\u907a\u4f1d\u5b50\u306e\u30cf\u30d7\u30ed\u4e0d\u5168\u304c\u75be\u60a3\u3092\u5f15\u304d\u8d77\u3053\u3059\u3053\u3068\u306e\u79d1\u5b66\u7684\u6839\u62e0\u3092\u8a55\u4fa1\u3057\u305f\u30c7\u30fc\u30bf\u30d9\u30fc\u30b9\u3002)<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<style>\n.entry-content li {\n  text-indent: -1rem !important;\n}\n<\/style>\n<p>\u8a73\u3057\u304f\u306f <a href=\"https:\/\/www.hiro-clinic.or.jp\/gene\/clinic\/\">\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af\u5168\u56fd\u306e\u30af\u30ea\u30cb\u30c3\u30af\u4e00\u89a7<\/a> \u3092\u3054\u89a7\u304f\u3060\u3055\u3044\u3002<\/p>","protected":false},"featured_media":0,"template":"","class_list":["post-16715","genetic-screening","type-genetic-screening","status-publish","hentry"],"acf":[],"_links":{"self":[{"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/16715","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening"}],"about":[{"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/types\/genetic-screening"}],"version-history":[{"count":4,"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/16715\/revisions"}],"predecessor-version":[{"id":16835,"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/16715\/revisions\/16835"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/media?parent=16715"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}