{"id":17585,"date":"2026-01-22T07:20:43","date_gmt":"2026-01-22T07:20:43","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/gene\/?post_type=genetic-screening&#038;p=17585"},"modified":"2026-01-22T07:21:38","modified_gmt":"2026-01-22T07:21:38","slug":"yuan-harel-lupski-syndrome-yuhal","status":"publish","type":"genetic-screening","link":"https:\/\/www.hiro-clinic.or.jp\/gene\/genetic-screening\/yuan-harel-lupski-syndrome-yuhal\/","title":{"rendered":"Yuan-Harel-Lupski syndrome (YUHAL)"},"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><strong>YUHAL\u75c7\u5019\u7fa4<\/strong><\/li>\n\n\n\n<li><strong>17p12-p11.2\u91cd\u8907\u75c7\u5019\u7fa4<\/strong><\/li>\n\n\n\n<li><strong>CMT1A \/ PTLS \u96a3\u63a5\u907a\u4f1d\u5b50\u91cd\u8907\u75c7\u5019\u7fa4<\/strong><\/li>\n\n\n\n<li><strong>Potocki-Lupski syndrome with Charcot-Marie-Tooth disease type 1A<\/strong><\/li>\n<\/ul>\n\n\n\n<p>YUHAL\u306f\u3001\u4ee5\u4e0b\u306e2\u3064\u306e\u65e2\u77e5\u306e\u75be\u60a3\u9818\u57df\u3092\u540c\u6642\u306b\u91cd\u8907\u3059\u308b\u3053\u3068\u3067\u767a\u75c7\u3059\u308b\u8907\u5408\u7684\u306a\u75c7\u5019\u7fa4\u3067\u3059\u3002<\/p>\n\n\n\n<ol class=\"wp-block-list\">\n<li><strong>Charcot-Marie-Tooth disease type 1A (CMT1A):<\/strong> \u672b\u68a2\u795e\u7d4c\u969c\u5bb3\u3092\u4e3b\u5fb4\u3068\u3059\u308b\u75be\u60a3\u3002<\/li>\n\n\n\n<li><strong>Potocki-Lupski syndrome (PTLS):<\/strong> \u77e5\u7684\u969c\u5bb3\u3084\u81ea\u9589\u7684\u50be\u5411\u3001\u591a\u7cfb\u7d71\u306e\u5148\u5929\u7570\u5e38\u3092\u4e3b\u5fb4\u3068\u3059\u308b\u75be\u60a3\u3002<\/li>\n<\/ol>\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>17\u756a\u67d3\u8272\u4f53 \u77ed\u8155\uff08p\uff0912\u9818\u57df\u304b\u308911.2\u9818\u57df\u306b\u304b\u3051\u3066\u306e\u5fae\u5c0f\u91cd\u8907<\/strong><\/p>\n\n\n\n<p>YUHAL\u75c7\u5019\u7fa4\u306f\u300117\u756a\u67d3\u8272\u4f53\u306e\u77ed\u8155\u306b\u3042\u308b\u300cp12\u300d\u304b\u3089\u300cp11.2\u300d\u3068\u3044\u3046\u3001\u6bd4\u8f03\u7684\u8fd1\u63a5\u3057\u305f\u3001\u3042\u308b\u3044\u306f\u9023\u7d9a\u3057\u305f2\u3064\u306e\u9818\u57df\u304c\u540c\u6642\u306b\u91cd\u8907\uff08<strong>\u5fae\u5c0f<\/strong>\u91cd\u8907\uff09\u3059\u308b\u3053\u3068\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3010\u30b2\u30ce\u30e0\u4e0a\u306e\u8a73\u7d30\u3068\u4e3b\u8981\u306a\u8cac\u4efb\u907a\u4f1d\u5b50\u3011<\/p>\n\n\n\n<p>\u3053\u306e\u9818\u57df\u306b\u306f\u3001\u795e\u7d4c\u767a\u9054\u304a\u3088\u3073\u672b\u68a2\u795e\u7d4c\u306e\u7dad\u6301\u306b\u4e0d\u53ef\u6b20\u306a2\u3064\u306e\u300c\u9375\u300d\u3068\u306a\u308b\u907a\u4f1d\u5b50\u304c\u542b\u307e\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>PMP22\u907a\u4f1d\u5b50 (17p12\u9818\u57df):<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>\u5f79\u5272:<\/strong> \u672b\u68a2\u795e\u7d4c\u306e\u9ac4\u9798\uff08\u30df\u30a8\u30ea\u30f3\u9798\uff09\u306e\u69cb\u6210\u6210\u5206\u3067\u3042\u308b\u300c\u672b\u68a2\u795e\u7d4c\u30df\u30a8\u30ea\u30f3\u30bf\u30f3\u30d1\u30af\u8cea22\u300d\u3092\u30b3\u30fc\u30c9\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u91cd\u8907\u306e\u5f71\u97ff:<\/strong> \u3053\u306e\u907a\u4f1d\u5b50\u304c1\u3064\u904e\u5270\u306b\u306a\u308b\uff08\u901a\u5e382\u3064\u306e\u3068\u3053\u308d3\u3064\u306b\u306a\u308b\uff09\u3053\u3068\u3067\u3001CMT1A\uff08\u30b7\u30e3\u30eb\u30b3\u30fc\u30fb\u30de\u30ea\u30fc\u30fb\u30c8\u30a5\u30fc\u30b9\u75c51A\u578b\uff09\u3092\u767a\u75c7\u3057\u3001\u672b\u68a2\u795e\u7d4c\u4f1d\u9054\u306e\u9045\u5ef6\u3068\u7b4b\u8089\u306e\u840e\u7e2e\u3092\u62db\u304d\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>RAI1\u907a\u4f1d\u5b50 (17p11.2\u9818\u57df):<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>\u5f79\u5272:<\/strong> \u8ee2\u5199\u56e0\u5b50\u3068\u3057\u3066\u50cd\u304d\u3001\u8133\u306e\u767a\u9054\u3084\u6982\u65e5\u30ea\u30ba\u30e0\u3001\u793e\u4f1a\u884c\u52d5\u306b\u95a2\u308f\u308b\u591a\u304f\u306e\u907a\u4f1d\u5b50\u306e\u767a\u73fe\u3092\u8abf\u7bc0\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u91cd\u8907\u306e\u5f71\u97ff:<\/strong> \u3053\u306e\u907a\u4f1d\u5b50\u304c\u904e\u5270\u306b\u306a\u308b\u3053\u3068\u3067\u3001PTLS\uff08\u30dd\u30c4\u30a9\u30c3\u30ad\u30fb\u30eb\u30d7\u30b9\u30ad\u75c7\u5019\u7fa4\uff09\u3092\u767a\u75c7\u3057\u3001\u77e5\u7684\u969c\u5bb3\u3084\u767a\u9054\u9045\u6ede\u3001\u81ea\u9589\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u75c7\uff08ASD\uff09\u7684\u7279\u6027\u306e\u539f\u56e0\u3068\u306a\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p>YUHAL\u75c7\u5019\u7fa4\u306e\u60a3\u8005\u306f\u3001\u3053\u308c\u30892\u3064\u306e\u9818\u57df\uff0817p12\u304a\u3088\u307317p11.2\uff09\u304c\u3001\u5358\u4e00\u306e\u5927\u304d\u306a\u91cd\u8907\u3001\u3042\u308b\u3044\u306f\u72ec\u7acb\u3057\u305f2\u3064\u306e\u91cd\u8907\u3068\u3057\u3066\u5b58\u5728\u3059\u308b\u3053\u3068\u3067\u3001\u53cc\u65b9\u306e\u75c7\u72b6\u304c\u91cd\u8907\u3057\u3066\u73fe\u308c\u307e\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>\u6975\u3081\u3066\u7a00\uff08\u6b63\u78ba\u306a\u983b\u5ea6\u306f\u4e0d\u660e\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5e0c\u5c11\u6027:<\/strong> 2015\u5e74\u306b\u521d\u3081\u3066\u547d\u540d\u3055\u308c\u305f\u6bd4\u8f03\u7684\u65b0\u3057\u3044\u75be\u60a3\u6982\u5ff5\u3067\u3042\u308a\u3001\u5168\u4e16\u754c\u3067\u3082\u5831\u544a\u4f8b\u306f\u9650\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u80cc\u666f:<\/strong> \u5358\u72ec\u306eCMT1A\uff082,500\u4eba\u306b1\u4eba\uff09\u3084PTLS\uff0820,000\u4eba\u306b1\u4eba\uff09\u306f\u6bd4\u8f03\u7684\u77e5\u3089\u308c\u3066\u3044\u307e\u3059\u304c\u3001\u4e21\u65b9\u306e\u9818\u57df\u3092\u540c\u6642\u306b\u91cd\u8907\u3059\u308bYUHAL\u306f\u3001\u30b2\u30ce\u30e0\u306e\u7279\u6b8a\u306a\u69cb\u9020\u7684\u518d\u7de8\u304c\u5fc5\u8981\u306a\u305f\u3081\u3001\u6975\u3081\u3066\u7a00\u306a\u73fe\u8c61\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6027\u5dee:<\/strong> \u7537\u5973\u554f\u308f\u305a\u767a\u75c7\u3057\u307e\u3059\u304c\u3001\u65b0\u751f\u7a81\u7136\u5909\u7570\uff08De novo\uff09\u306b\u3088\u308b\u767a\u75c7\u304c\u591a\u3044\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\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>YUHAL\u75c7\u5019\u7fa4\u306e\u6700\u5927\u306e\u7279\u5fb4\u306f\u3001\u300c\u672b\u68a2\u795e\u7d4c\u306e\u969c\u5bb3\u300d\u3068\u300c\u4e2d\u67a2\u795e\u7d4c\u30fb\u767a\u9054\u306e\u969c\u5bb3\u300d\u304c\u6df7\u5728\u3059\u308b\u3053\u3068\u3067\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u795e\u7d4c\u767a\u9054\u3068\u77e5\u80fd\uff08PTLS\u7684\u5074\u9762\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u77e5\u7684\u969c\u5bb3\u30fb\u767a\u9054\u9045\u6ede:<\/strong> \u307b\u307c\u3059\u3079\u3066\u306e\u75c7\u4f8b\u3067\u8a8d\u3081\u3089\u308c\u307e\u3059\u3002\u7279\u306b\u8a00\u8a9e\u767a\u9054\u306e\u9045\u308c\u304c\u9855\u8457\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u81ea\u9589\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u75c7 (ASD):<\/strong> \u793e\u4f1a\u7684\u306a\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u306e\u56f0\u96e3\u3055\u3001\u3053\u3060\u308f\u308a\u3001\u611f\u899a\u904e\u654f\u306a\u3069\u304c\u898b\u3089\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u4f4e\u7dca\u5f35:<\/strong> \u4e73\u5150\u671f\u306b\u306f\u300c\u4f53\u304c\u67d4\u3089\u304b\u3059\u304e\u308b\uff08\u30d5\u30ed\u30c3\u30d4\u30fc\u30a4\u30f3\u30d5\u30a1\u30f3\u30c8\uff09\u300d\u72b6\u614b\u304c\u898b\u3089\u308c\u3001\u904b\u52d5\u767a\u9054\u3092\u9045\u3089\u305b\u308b\u8981\u56e0\u3068\u306a\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u884c\u52d5\u8ab2\u984c:<\/strong> \u6ce8\u610f\u6b20\u5982\u30fb\u591a\u52d5\u75c7\uff08ADHD\uff09\u3084\u7761\u7720\u969c\u5bb3\uff08\u6982\u65e5\u30ea\u30ba\u30e0\u306e\u4e71\u308c\uff09\u3092\u4f34\u3046\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u672b\u68a2\u795e\u7d4c\u969c\u5bb3\uff08CMT1A\u7684\u5074\u9762\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u9060\u4f4d\u7b4b\u306e\u840e\u7e2e\u3068\u7b4b\u529b\u4f4e\u4e0b:<\/strong> \u5b66\u7ae5\u671f\u4ee5\u964d\u306b\u3001\u8db3\u5148\u3084\u624b\u5148\u306e\u7b4b\u8089\u304c\u5f90\u3005\u306b\u75e9\u305b\u3066\u3044\u304f\u75c7\u72b6\u304c\u73fe\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u611f\u899a\u969c\u5bb3:<\/strong> \u624b\u8db3\u306e\u3057\u3073\u308c\u3084\u3001\u75db\u307f\u30fb\u6e29\u5ea6\u306b\u5bfe\u3059\u308b\u611f\u899a\u306e\u4f4e\u4e0b\u3002<\/li>\n\n\n\n<li><strong>\u8db3\u306e\u5909\u5f62:<\/strong> \u51f9\u8db3\uff08\u30cf\u30a4\u30a2\u30fc\u30c1\uff09\u3084\u5185\u53cd\u8db3\u304c\u898b\u3089\u308c\u3001\u6b69\u884c\u6642\u306e\u3064\u307e\u305a\u304d\u3084\u4e0d\u5b89\u5b9a\u3055\u306e\u539f\u56e0\u3068\u306a\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u8171\u53cd\u5c04\u306e\u6d88\u5931:<\/strong> \u819d\u84cb\u8171\u53cd\u5c04\u306a\u3069\u306e\u6df1\u90e8\u8171\u53cd\u5c04\u304c\u6d88\u5931\u307e\u305f\u306f\u6e1b\u5f31\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u7279\u5fb4\u7684\u306a\u9854\u8c8c<\/strong><\/p>\n\n\n\n<p>\u5287\u7684\u306a\u5947\u5f62\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u304c\u3001\u5171\u901a\u3057\u305f\u5fae\u7d30\u306a\u7279\u5fb4\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5e83\u3044\u304a\u3067\u3053\uff08\u9ad8\u524d\u982d\uff09<\/strong><\/li>\n\n\n\n<li><strong>\u773c\u9593\u958b\u96e2:<\/strong> \u4e21\u76ee\u306e\u9593\u9694\u304c\u308f\u305a\u304b\u306b\u5e83\u3044\u3002<\/li>\n\n\n\n<li><strong>\u4e2d\u9854\u9762\u306e\u5e73\u5766\u5316:<\/strong> \u9854\u306e\u4e2d\u592e\u90e8\u304c\u3084\u3084\u63a7\u3048\u3081\u306a\u5370\u8c61\u3002<\/li>\n\n\n\n<li><strong>\u5c0f\u3055\u306a\u984e\uff08\u5c0f\u984e\u75c7\uff09<\/strong><\/li>\n<\/ul>\n\n\n\n<p><strong>4. \u305d\u306e\u4ed6\u306e\u8eab\u4f53\u7684\u7279\u5fb4<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u6210\u9577\u969c\u5bb3:<\/strong> \u51fa\u751f\u6642\u3088\u308a\u5c0f\u67c4\u3067\u3042\u308b\u3001\u3042\u308b\u3044\u306f\u6210\u9577\u306e\u30b9\u30d4\u30fc\u30c9\u304c\u7de9\u3084\u304b\u3067\u3042\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6442\u98df\u56a5\u4e0b\u969c\u5bb3:<\/strong> \u7b4b\u8089\u306e\u4f4e\u7dca\u5f35\u3084\u8abf\u7bc0\u4e0d\u5168\u306b\u3088\u308a\u3001\u98df\u3079\u7269\u306e\u98f2\u307f\u8fbc\u307f\u304c\u4e0a\u624b\u304f\u3044\u304b\u306a\u3044\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u810a\u67f1\u5074\u5f2f\u75c7:<\/strong> \u4f53\u5e79\u306e\u7b4b\u529b\u4e0d\u5747\u8861\u306b\u3088\u308a\u80cc\u9aa8\u304c\u66f2\u304c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u539f\u56e0<\/strong><\/h2>\n\n\n\n<p><strong>17p12-p11.2\u9818\u57df\u306e\u96a3\u63a5\u907a\u4f1d\u5b50\u91cd\u8907\uff08CNV\uff1a\u30b3\u30d4\u30fc\u6570\u591a\u578b\uff09<\/strong><\/p>\n\n\n\n<p>YUHAL\u75c7\u5019\u7fa4\u306f\u3001\u30b2\u30ce\u30e0\u306e\u300c\u69cb\u9020\u7570\u5e38\u300d\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<ol class=\"wp-block-list\">\n<li>\u975e\u5bfe\u7acb\u907a\u4f1d\u5b50\u9593\u76f8\u540c\u7d44\u63db\u3048\uff08NAHR\uff09:<br>17\u756a\u67d3\u8272\u4f53\u306e\u77ed\u8155\u306b\u306f\u3001\u7279\u5b9a\u306eDNA\u914d\u5217\u304c\u7e70\u308a\u8fd4\u3055\u308c\u3066\u3044\u308b\u7b87\u6240\u304c\u591a\u304f\u3001\u7d30\u80de\u5206\u88c2\uff08\u6e1b\u6570\u5206\u88c2\uff09\u306e\u969b\u306b\u8aa4\u3063\u3066\u96a3\u308a\u5408\u3046\u9818\u57df\u3092\u4e00\u7dd2\u306b\u53d6\u308a\u8fbc\u3093\u3067\u3057\u307e\u3046\u300c\u7d44\u307f\u63db\u3048\u30df\u30b9\u300d\u304c\u8d77\u304d\u3084\u3059\u3044\u69cb\u9020\u306b\u306a\u3063\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u65b0\u751f\u7a81\u7136\u5909\u7570\uff08De novo\uff09:<br>\u591a\u304f\u306e\u5834\u5408\u3001\u4e21\u89aa\u306e\u67d3\u8272\u4f53\u69cb\u6210\u306f\u6b63\u5e38\u3067\u3042\u308a\u3001\u7cbe\u5b50\u3084\u5375\u5b50\u306e\u5f62\u6210\u904e\u7a0b\u3067\u5076\u7136\u306b\u5fae\u5c0f\u91cd\u8907\u304c\u751f\u3058\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u8907\u96d1\u306a\u30b2\u30ce\u30e0\u518d\u7de8:<br>YUHAL\u306f\u5358\u306a\u308b2\u3064\u306e\u75be\u60a3\u306e\u5408\u4f75\u3067\u306f\u306a\u304f\u300117p12\u304b\u3089p11.2\u306b\u308f\u305f\u308b\u5927\u304d\u306a\u9023\u7d9a\u3057\u305f\u91cd\u8907\u3067\u3042\u308b\u5834\u5408\u304c\u591a\u304f\u3001\u3053\u308c\u3092\u300c\u96a3\u63a5\u907a\u4f1d\u5b50\u91cd\u8907\u75c7\u5019\u7fa4\u300d\u3068\u547c\u3073\u307e\u3059\u3002<\/li>\n<\/ol>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u8a3a\u65ad\u65b9\u6cd5<\/strong><\/h2>\n\n\n\n<p>\u81e8\u5e8a\u75c7\u72b6\uff08\u767a\u9054\u9045\u6ede\uff0b\u624b\u8db3\u306e\u7b4b\u840e\u7e2e\uff09\u304b\u3089\u7591\u3044\u3001\u6700\u65b0\u306e\u30b2\u30ce\u30e0\u89e3\u6790\u6280\u8853\u306b\u3088\u3063\u3066\u78ba\u5b9a\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u67d3\u8272\u4f53\u691c\u67fb (CMA):<br>\u78ba\u5b9a\u8a3a\u65ad\u306e\u7b2c\u4e00\u9078\u629e\u3067\u3059\u300217p11.2\u306817p12\u306e\u4e21\u65b9\u306e\u9818\u57df\u304c\u91cd\u8907\u3057\u3066\u3044\u308b\u3053\u3068\u3092\u3001\u5fae\u5c0f\u306a\u30ec\u30d9\u30eb\u3067\u6b63\u78ba\u306b\u7279\u5b9a\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u795e\u7d4c\u4f1d\u5c0e\u901f\u5ea6\u691c\u67fb (NCV):<br>\u672b\u68a2\u795e\u7d4c\u3092\u96fb\u6c17\u3067\u523a\u6fc0\u3057\u3001\u4f1d\u308f\u308b\u901f\u3055\u3092\u6e2c\u5b9a\u3057\u307e\u3059\u3002CMT1A\u306e\u8981\u7d20\u304c\u3042\u308b\u5834\u5408\u3001\u4f1d\u5c0e\u901f\u5ea6\u304c\u8457\u3057\u304f\u4f4e\u4e0b\uff08\u8131\u9ac4\u578b\uff09\u3057\u3066\u3044\u308b\u306e\u304c\u78ba\u8a8d\u3055\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li>FISH\u6cd5:<br>\u7279\u5b9a\u306e\u30d7\u30ed\u30fc\u30d6\uff08PMP22\u3084RAI1\uff09\u3092\u7528\u3044\u3066\u3001\u67d3\u8272\u4f53\u4e0a\u3067\u30b7\u30b0\u30ca\u30eb\u304c\u5897\u3048\u3066\u3044\u308b\uff08\u91cd\u8907\u3057\u3066\u3044\u308b\uff09\u3053\u3068\u3092\u8996\u899a\u7684\u306b\u78ba\u8a8d\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u81e8\u5e8a\u8a55\u4fa1:<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>\u982d\u90e8MRI:<\/strong> \u8133\u306e\u69cb\u9020\u3092\u78ba\u8a8d\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u767a\u9054\u691c\u67fb:<\/strong> \u77e5\u80fd\u6307\u6570\uff08IQ\uff09\u3084\u793e\u4f1a\u6027\u306e\u767a\u9054\u6bb5\u968e\u3092\u8a55\u4fa1\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u6cbb\u7642\u65b9\u6cd5<\/strong><\/h2>\n\n\n\n<p>\u6839\u672c\u7684\u306b\u300c\u91cd\u8907\u3057\u305f\u907a\u4f1d\u5b50\u3092\u6b63\u5e38\u306b\u623b\u3059\u300d\u6cbb\u7642\u6cd5\u306f\u5b58\u5728\u3057\u307e\u305b\u3093\u3002\u6cbb\u7642\u306f\u3001QOL\uff08\u751f\u6d3b\u306e\u8cea\uff09\u306e\u7dad\u6301\u3068\u80fd\u529b\u306e\u6700\u5927\u5316\u3092\u76ee\u6307\u3059**\u300c\u591a\u8077\u7a2e\u9023\u643a\u306b\u3088\u308b\u5305\u62ec\u7684\u30b1\u30a2\u300d**\u304c\u4e2d\u5fc3\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u767a\u9054\u30fb\u7642\u80b2\u7684\u652f\u63f4<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u65e9\u671f\u7642\u80b2:<\/strong> \u8a00\u8a9e\u7642\u6cd5\uff08ST\uff09\u306b\u3088\u308b\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u652f\u63f4\u3001\u4f5c\u696d\u7642\u6cd5\uff08OT\uff09\u306b\u3088\u308b\u5fae\u7d30\u904b\u52d5\u306e\u8a13\u7df4\u3001\u7406\u5b66\u7642\u6cd5\uff08PT\uff09\u306b\u3088\u308b\u7c97\u5927\u904b\u52d5\u306e\u652f\u63f4\u3092\u65e9\u671f\u304b\u3089\u958b\u59cb\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u7279\u5225\u652f\u63f4\u6559\u80b2:<\/strong> \u77e5\u7684\u30ec\u30d9\u30eb\u3084ASD\u7279\u6027\u306b\u5408\u308f\u305b\u305f\u3001\u500b\u5225\u306e\u5b66\u7fd2\u652f\u63f4\u74b0\u5883\u3092\u6574\u3048\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u6574\u5f62\u5916\u79d1\u304a\u3088\u3073\u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u88c5\u5177\u7642\u6cd5:<\/strong> \u8db3\u306e\u5909\u5f62\uff08\u51f9\u8db3\uff09\u306b\u5bfe\u3057\u3066\u3001\u6b69\u884c\u3092\u5b89\u5b9a\u3055\u305b\u308b\u305f\u3081\u306e\u77ed\u4e0b\u80a2\u88c5\u5177\u306a\u3069\u3092\u4f5c\u6210\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u7b4b\u529b\u7dad\u6301:<\/strong> \u904e\u5ea6\u306a\u8ca0\u8377\u3092\u907f\u3051\u3064\u3064\u3001\u9069\u5ea6\u306a\u904b\u52d5\u306b\u3088\u308b\u7b4b\u529b\u7dad\u6301\u3068\u95a2\u7bc0\u62d8\u7e2e\u306e\u4e88\u9632\u3002<\/li>\n\n\n\n<li><strong>\u5916\u79d1\u7684\u624b\u8853:<\/strong> \u8db3\u306e\u5909\u5f62\u3084\u810a\u67f1\u5074\u5f2f\u75c7\u304c\u9032\u884c\u3057\u305f\u5834\u5408\u3001\u77ef\u6b63\u624b\u8853\u3092\u691c\u8a0e\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u5185\u79d1\u7684\u30fb\u884c\u52d5\u7684\u30b5\u30dd\u30fc\u30c8<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u7761\u7720\u7ba1\u7406:<\/strong> \u7761\u7720\u30ea\u30ba\u30e0\u304c\u4e71\u308c\u308b\u5834\u5408\u3001\u30e1\u30e9\u30c8\u30cb\u30f3\u53d7\u5bb9\u4f53\u4f5c\u52d5\u85ac\u306a\u3069\u306e\u4f7f\u7528\u304c\u691c\u8a0e\u3055\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6804\u990a\u30b5\u30dd\u30fc\u30c8:<\/strong> \u56a5\u4e0b\u969c\u5bb3\u304c\u3042\u308b\u5834\u5408\u3001\u98df\u4e8b\u5f62\u614b\u306e\u5de5\u592b\u3084\u6804\u990a\u58eb\u306b\u3088\u308b\u6307\u5c0e\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>4. \u6ce8\u610f\u3059\u3079\u304d\u85ac\u5264\uff08CMT1A\u306b\u95a2\u9023\u3057\u3066\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u672b\u68a2\u795e\u7d4c\u969c\u5bb3\u3092\u60aa\u5316\u3055\u305b\u308b\u53ef\u80fd\u6027\u306e\u3042\u308b\u85ac\u5264:<\/strong> \u30f4\u30a3\u30f3\u30af\u30ea\u30b9\u30c1\u30f3\uff08\u6297\u304c\u3093\u5264\uff09\u306a\u3069\u3001\u4e00\u90e8\u306e\u85ac\u5264\u306fCMT1A\u306e\u75c7\u72b6\u3092\u6025\u6fc0\u306b\u60aa\u5316\u3055\u305b\u308b\u3053\u3068\u304c\u77e5\u3089\u308c\u3066\u3044\u308b\u305f\u3081\u3001\u4ed6\u75be\u60a3\u306e\u6cbb\u7642\u306e\u969b\u306b\u306f\u5fc5\u305aYUHAL\u3067\u3042\u308b\u3053\u3068\u3092\u533b\u5e2b\u306b\u4f1d\u3048\u308b\u5fc5\u8981\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u4e88\u5f8c<\/strong><\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u751f\u5b58\u671f\u9593:<\/strong> \u4e00\u822c\u306e\u65b9\u3068\u5927\u304d\u304f\u5909\u308f\u3089\u306a\u3044\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002\u751f\u547d\u3092\u8105\u304b\u3059\u3088\u3046\u306a\u91cd\u7be4\u306a\u5185\u81d3\u5947\u5f62\u306f\u6bd4\u8f03\u7684\u5c11\u306a\u3044\u305f\u3081\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u81ea\u7acb\u5ea6:<\/strong> \u4e2d\u67a2\u795e\u7d4c\u75c7\u72b6\uff08\u77e5\u7684\u969c\u5bb3\uff09\u3068\u672b\u68a2\u795e\u7d4c\u75c7\u72b6\uff08\u6b69\u884c\u56f0\u96e3\uff09\u306e\u7a0b\u5ea6\u306b\u5de6\u53f3\u3055\u308c\u307e\u3059\u3002\u751f\u6daf\u3092\u901a\u3058\u3066\u4e00\u5b9a\u306e\u793e\u4f1a\u7684\u30b5\u30dd\u30fc\u30c8\u304c\u5fc5\u8981\u3068\u306a\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u304c\u3001\u9069\u5207\u306a\u652f\u63f4\u4e0b\u3067\u5b89\u5b9a\u3057\u305f\u751f\u6d3b\u3092\u9001\u308b\u3053\u3068\u306f\u5341\u5206\u306b\u53ef\u80fd\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u9032\u884c\u6027:<\/strong> \u672b\u68a2\u795e\u7d4c\u969c\u5bb3\uff08CMT1A\u6210\u5206\uff09\u306f\u3001\u6210\u9577\u3068\u3068\u3082\u306b\u7de9\u3084\u304b\u306b\u9032\u884c\u3059\u308b\u6027\u8cea\u304c\u3042\u308b\u305f\u3081\u3001\u6210\u4eba\u671f\u4ee5\u964d\u3082\u5b9a\u671f\u7684\u306a\u30d5\u30a9\u30ed\u30fc\u30a2\u30c3\u30d7\u304c\u91cd\u8981\u3067\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>Yuan-Harel-Lupski syndrome\uff08YUHAL\uff0f\u30e6\u30a2\u30f3-\u30cf\u30ec\u30eb-\u30eb\u30d7\u30b9\u30ad\u75c7\u5019\u7fa4\uff09\u306f\u300117\u756a\u67d3\u8272\u4f53\u306e\u4e00\u90e8\u306b\u3042\u308b\u300c\u8133\u306e\u767a\u9054\u306b\u95a2\u308f\u308b\u8a2d\u8a08\u56f3\u300d\u3068\u300c\u624b\u8db3\u306e\u795e\u7d4c\u3092\u5b88\u308b\u8a2d\u8a08\u56f3\u300d\u304c\u3001\u540c\u6642\u306b2\u3064\u305a\u3064\u3067\u306f\u306a\u304f3\u3064\u5b58\u5728\u3057\u3066\u3057\u307e\u3046\uff08\u5fae\u5c0f\u91cd\u8907\uff09\u3053\u3068\u3067\u8d77\u3053\u308b\u75c5\u6c17\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u305d\u306e\u305f\u3081\u3001\u300c\u8a00\u8449\u3084\u77e5\u80fd\u306e\u767a\u9054\u304c\u3086\u3063\u304f\u308a\u3067\u3042\u308b\u300d\u3068\u3044\u3046\u7279\u5fb4\u3068\u3001\u300c\u624b\u8db3\u306e\u7b4b\u8089\u304c\u75e9\u305b\u3084\u3059\u304f\u3001\u6b69\u304d\u306b\u304f\u3055\u304c\u3042\u308b\u300d\u3068\u3044\u3046\u30012\u3064\u306e\u7570\u306a\u308b\u6027\u8cea\u306e\u75c7\u72b6\u304c\u91cd\u306a\u308a\u5408\u3063\u3066\u73fe\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u8a3a\u65ad\u306b\u306f\u3001\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u691c\u67fb\u306a\u3069\u306e\u7cbe\u5bc6\u306a\u907a\u4f1d\u5b50\u691c\u67fb\u304c\u4e0d\u53ef\u6b20\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u6839\u672c\u7684\u306a\u6cbb\u7642\u6cd5\u306f\u307e\u3060\u3042\u308a\u307e\u305b\u3093\u304c\u3001\u65e9\u671f\u304b\u3089\u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3\u3084\u7642\u80b2\u3001\u305d\u3057\u3066\u8db3\u306e\u5909\u5f62\u3092\u9632\u3050\u88c5\u5177\u306e\u6d3b\u7528\u306a\u3069\u3092\u7d44\u307f\u5408\u308f\u305b\u308b\u3053\u3068\u3067\u3001\u304a\u5b50\u69d8\u304c\u6301\u3063\u3066\u3044\u308b\u529b\u3092\u6700\u5927\u9650\u306b\u5f15\u304d\u51fa\u3057\u3001\u5065\u3084\u304b\u306a\u6bce\u65e5\u3092\u9001\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002\u795e\u7d4c\u5185\u79d1\u3001\u6574\u5f62\u5916\u79d1\u3001\u7642\u80b2\u30bb\u30f3\u30bf\u30fc\u306a\u3069\u306e\u5c02\u9580\u5bb6\u304c\u30c1\u30fc\u30e0\u3068\u306a\u308a\u3001\u304a\u5b50\u69d8\u306e\u6b69\u5e45\u306b\u5408\u308f\u305b\u305f\u6210\u9577\u3092\u3001\u9577\u304f\u6e29\u304b\u304f\u652f\u3048\u3066\u3044\u304d\u307e\u3057\u3087\u3046\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u53c2\u8003\u6587\u732e\u5143<\/strong><\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>Yuan, B., Harel, T., Lupski, J. R., et al.<\/strong> (2015). <em>Clinical Exome Sequencing Reveals Locus Heterogeneity and Physician Underdiagnosis of Pathogenic CNV Kits.<\/em> Genetics in Medicine.\n<ul class=\"wp-block-list\">\n<li>\uff08\u672c\u75c7\u5019\u7fa4\u3092\u521d\u3081\u3066\u5b9a\u7fa9\u3057\u3001\u547d\u540d\u3057\u305f\u8a18\u5ff5\u7891\u7684\u8ad6\u6587\u3002\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Lupski, J. R.<\/strong> (2015). <em>Structural variation emerging from mechanisms of complex genomic rearrangements.<\/em> Mutation Research.\n<ul class=\"wp-block-list\">\n<li>\uff08YUHAL\u306e\u80cc\u666f\u306b\u3042\u308b\u8907\u96d1\u306a\u30b2\u30ce\u30e0\u518d\u7de8\u306e\u30e1\u30ab\u30cb\u30ba\u30e0\u3092\u89e3\u8aac\u3002\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Potocki, L., et al.<\/strong> (2007). <em>Characterization of Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotype.<\/em>\n<ul class=\"wp-block-list\">\n<li>\uff08YUHAL\u306e\u69cb\u6210\u8981\u7d20\u306e\u4e00\u3064\u3067\u3042\u308bPTLS\u306e\u81e8\u5e8a\u50cf\u306b\u95a2\u3059\u308b\u57fa\u790e\u6587\u732e\u3002\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>GeneReviews\u00ae [Internet]<\/strong>: <em>PMP22-Related Hereditary Neuropathy<\/em>. (NCBI).\n<ul class=\"wp-block-list\">\n<li>\uff08CMT1A\u6210\u5206\u306e\u8a3a\u65ad\u3068\u7ba1\u7406\u306b\u95a2\u3059\u308b\u4e16\u754c\u7684\u6a19\u6e96\u30c7\u30fc\u30bf\u30d9\u30fc\u30b9\u3002\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Unique (The Rare Chromosome Disorder Support Group)<\/strong>: <em>17p11.2p12 microduplications (YUHAL)<\/em>.\n<ul class=\"wp-block-list\">\n<li>\uff08\u5e0c\u5c11\u67d3\u8272\u4f53\u7570\u5e38\u652f\u63f4\u56e3\u4f53\u306b\u3088\u308b\u3001\u5bb6\u65cf\u5411\u3051\u306e\u5b9f\u8df5\u7684\u304b\u3064\u6e29\u304b\u3044\u30ac\u30a4\u30c9\u8cc7\u6599\u3002\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Harel, T., et al.<\/strong> (2016). <em>CNV-mediated joint contiguous gene syndromes.<\/em> Current Opinion in Genetics &amp; Development.\n<ul class=\"wp-block-list\">\n<li>\uff08\u96a3\u63a5\u907a\u4f1d\u5b50\u75c7\u5019\u7fa4\u3068\u3057\u3066\u306eYUHAL\u306e\u75c5\u614b\u751f\u7406\u3092\u8ad6\u3058\u305f\u30ec\u30d3\u30e5\u30fc\u3002\uff09<\/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-17585","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\/17585","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":2,"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/17585\/revisions"}],"predecessor-version":[{"id":17588,"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/17585\/revisions\/17588"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/media?parent=17585"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}