{"id":17356,"date":"2026-01-22T02:56:36","date_gmt":"2026-01-22T02:56:36","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/gene\/?post_type=genetic-screening&#038;p=17356"},"modified":"2026-01-22T02:56:36","modified_gmt":"2026-01-22T02:56:36","slug":"kleefstra-syndrome-1-klefs1","status":"publish","type":"genetic-screening","link":"https:\/\/www.hiro-clinic.or.jp\/gene\/genetic-screening\/kleefstra-syndrome-1-klefs1\/","title":{"rendered":"Kleefstra syndrome 1 (KLEFS1)"},"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>\u30af\u30ea\u30fc\u30d5\u30b9\u30c8\u30e9\u75c7\u5019\u7fa4<\/strong><\/li>\n\n\n\n<li><strong>9q34.3\u5fae\u5c0f\u6b20\u5931\u75c7\u5019\u7fa4\uff089q34.3 microdeletion syndrome\uff09<\/strong><\/li>\n\n\n\n<li><strong>EHMT1\u95a2\u9023\u75be\u60a3\uff08EHMT1-related disorder\uff09<\/strong><\/li>\n\n\n\n<li><strong>9q-\u75c7\u5019\u7fa4<\/strong><\/li>\n<\/ul>\n\n\n\n<p>\u304b\u3064\u3066\u306f\u67d3\u8272\u4f53\u9818\u57df\u304b\u3089\u300c9q34.3\u5fae\u5c0f\u6b20\u5931\u75c7\u5019\u7fa4\u300d\u3068\u547c\u3070\u308c\u3066\u3044\u307e\u3057\u305f\u304c\u3001\u3053\u306e\u75be\u60a3\u306e\u81e8\u5e8a\u50cf\u3068\u539f\u56e0\u907a\u4f1d\u5b50\u3092\u7279\u5b9a\u3057\u305f\u30aa\u30e9\u30f3\u30c0\u306e\u907a\u4f1d\u5b66\u8005Tjitske Kleefstra\u535a\u58eb\u306e\u540d\u3092\u51a0\u3057\u3001\u73fe\u5728\u306f\u300c\u30af\u30ea\u30fc\u30d5\u30b9\u30c8\u30e9\u75c7\u5019\u7fa4\u300d\u3068\u547c\u79f0\u3055\u308c\u308b\u306e\u304c\u4e00\u822c\u7684\u3067\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>9\u756a\u67d3\u8272\u4f53 \u9577\u8155\uff08q\uff0934.3\u9818\u57df<\/strong><\/p>\n\n\n\n<p>KLEFS1\u306f\u30019\u756a\u67d3\u8272\u4f53\u306e\u9577\u8155\u306e\u672b\u7aef\u8fd1\u304f\uff08q34.3\uff09\u306b\u4f4d\u7f6e\u3059\u308b <strong>EHMT1\u907a\u4f1d\u5b50<\/strong> \u306e\u6a5f\u80fd\u4e0d\u5168\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>\u3010\u30b2\u30ce\u30e0\u4e0a\u306e\u8a73\u7d30\u3068EHMT1\u907a\u4f1d\u5b50\u306e\u5f79\u5272\u3011<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u8cac\u4efb\u907a\u4f1d\u5b50:<\/strong> <em>EHMT1<\/em> (Euchromatic Histone Methyltransferase 1)<\/li>\n\n\n\n<li><strong>\u5f79\u5272:<\/strong> <em>EHMT1<\/em>\u907a\u4f1d\u5b50\u306f\u3001\u30a8\u30d4\u30b8\u30a7\u30cd\u30c6\u30a3\u30af\u30b9\uff08\u907a\u4f1d\u5b50\u306e\u50cd\u304d\u3092\u8abf\u7bc0\u3059\u308b\u4ed5\u7d44\u307f\uff09\u306b\u304a\u3044\u3066\u6975\u3081\u3066\u91cd\u8981\u306a\u300c\u30d2\u30b9\u30c8\u30f3\u30e1\u30c1\u30eb\u57fa\u8ee2\u79fb\u9175\u7d20\u300d\u3068\u3044\u3046\u30bf\u30f3\u30d1\u30af\u8cea\u3092\u30b3\u30fc\u30c9\u3057\u3066\u3044\u307e\u3059\u3002\u3053\u306e\u9175\u7d20\u306f\u3001DNA\u304c\u5dfb\u304d\u4ed8\u3044\u3066\u3044\u308b\u300c\u30d2\u30b9\u30c8\u30f3\u300d\u3068\u3044\u3046\u30bf\u30f3\u30d1\u30af\u8cea\u306b\u30e1\u30c1\u30eb\u57fa\u3092\u4ed8\u52a0\u3059\u308b\u3053\u3068\u3067\u3001\u7279\u5b9a\u306e\u907a\u4f1d\u5b50\u306e\u30b9\u30a4\u30c3\u30c1\u3092\u300c\u30aa\u30d5\u300d\u306b\u3059\u308b\u5f79\u5272\u3092\u62c5\u3063\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u75c5\u614b\u30e1\u30ab\u30cb\u30ba\u30e0:<\/strong> \u8133\u306e\u767a\u9054\u904e\u7a0b\u3067\u306f\u3001\u9069\u5207\u306a\u30bf\u30a4\u30df\u30f3\u30b0\u3067\u7279\u5b9a\u306e\u907a\u4f1d\u5b50\u3092\u30aa\u30d5\u306b\u3059\u308b\u5fc5\u8981\u304c\u3042\u308a\u307e\u3059\u3002KLEFS1\u3067\u306f\u3001\u3053\u306e\u907a\u4f1d\u5b50\u306e\u7247\u65b9\u306b\u6b20\u5931\u3084\u5909\u7570\u304c\u751f\u3058\u3001\u9175\u7d20\u306e\u91cf\u304c\u534a\u5206\u306b\u6e1b\u3063\u3066\u3057\u307e\u3046\u300c\u30cf\u30d7\u30ed\u4e0d\u5168\u300d\u304c\u8d77\u3053\u308a\u307e\u3059\u3002\u305d\u306e\u7d50\u679c\u3001\u672c\u6765\u30aa\u30d5\u306b\u306a\u308b\u3079\u304d\u907a\u4f1d\u5b50\u304c\u50cd\u304d\u7d9a\u3051\u3066\u3057\u307e\u3044\u3001\u795e\u7d4c\u7d30\u80de\u306e\u30cd\u30c3\u30c8\u30ef\u30fc\u30af\u5f62\u6210\u3084\u30b7\u30ca\u30d7\u30b9\u306e\u6a5f\u80fd\u306b\u7570\u5e38\u304c\u751f\u3058\u3001\u77e5\u7684\u969c\u5bb3\u3084\u767a\u9054\u9045\u6ede\u304c\u5f15\u304d\u8d77\u3053\u3055\u308c\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u767a\u751f\u983b\u5ea6<\/strong><\/h2>\n\n\n\n<p><strong>\u6b63\u78ba\u306a\u983b\u5ea6\u306f\u4e0d\u660e\uff08\u5e0c\u5c11\u75be\u60a3\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u63a8\u5b9a\u983b\u5ea6:<\/strong> \u4ee5\u524d\u306f\u6975\u3081\u3066\u7a00\u3068\u8003\u3048\u3089\u308c\u3066\u304d\u307e\u3057\u305f\u304c\u3001\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u691c\u67fb\u3084\u6b21\u4e16\u4ee3\u30b7\u30fc\u30b1\u30f3\u30b5\u30fc\uff08NGS\uff09\u306e\u666e\u53ca\u306b\u3088\u308a\u3001\u8a3a\u65ad\u6570\u304c\u5897\u52a0\u3057\u3066\u3044\u307e\u3059\u3002\u4e00\u90e8\u306e\u7814\u7a76\u3067\u306f\u3001\u539f\u56e0\u4e0d\u660e\u306e\u77e5\u7684\u969c\u5bb3\u3092\u6301\u3064\u4eba\u3005\u306e\u7d040.1%\u301c0.5%\u304c\u672c\u75c7\u5019\u7fa4\u3067\u3042\u308b\u53ef\u80fd\u6027\u304c\u793a\u5506\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5206\u5e03:<\/strong> \u4eba\u7a2e\u3084\u5730\u57df\u3001\u6027\u5225\u306b\u3088\u308b\u767a\u751f\u983b\u5ea6\u306e\u5dee\u306f\u8a8d\u3081\u3089\u308c\u3066\u3044\u307e\u305b\u3093\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>KLEFS1\u306e\u75c7\u72b6\u306f\u3001\u8eab\u4f53\u7684\u306a\u7279\u5fb4\u304b\u3089\u7cbe\u795e\u30fb\u884c\u52d5\u9762\u307e\u3067\u591a\u5c90\u306b\u308f\u305f\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u7279\u5fb4\u7684\u306a\u9854\u8c8c\uff08Facial Dysmorphism\uff09<\/strong><\/p>\n\n\n\n<p>\u8a3a\u65ad\u306e\u91cd\u8981\u306a\u624b\u304c\u304b\u308a\u3068\u306a\u308b\u5171\u901a\u306e\u7279\u5fb4\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u982d\u90e8:<\/strong> \u77ed\u982d\uff08\u982d\u306e\u524d\u5f8c\u5f84\u304c\u77ed\u3044\uff09\u3001\u3042\u308b\u3044\u306f\u5c0f\u982d\u75c7\u3002<\/li>\n\n\n\n<li><strong>\u7709:<\/strong> \u7709\u6bdb\u304c\u6fc3\u304f\u3001\u5de6\u53f3\u304c\u3064\u306a\u304c\u3063\u3066\u3044\u308b\uff08\u9023\u7709\uff09\u50be\u5411\u3002<\/li>\n\n\n\n<li><strong>\u76ee:<\/strong> \u773c\u9593\u958b\u96e2\uff08\u76ee\u304c\u96e2\u308c\u3066\u3044\u308b\uff09\u3001\u3064\u308a\u4e0a\u304c\u3063\u305f\u76ee\uff08\u773c\u77bc\u88c2\u659c\u4e0a\uff09\u3002<\/li>\n\n\n\n<li><strong>\u4e2d\u9854\u9762:<\/strong> \u9854\u306e\u771f\u3093\u4e2d\u90e8\u5206\u304c\u5e73\u5766\u3002<\/li>\n\n\n\n<li><strong>\u9f3b:<\/strong> \u9f3b\u6839\u90e8\u304c\u4f4e\u304f\u3001\u9f3b\u5148\u304c\u4e0a\u3092\u5411\u3044\u3066\u3044\u308b\uff08\u7345\u5b50\u9f3b\u69d8\uff09\u3002<\/li>\n\n\n\n<li><strong>\u53e3:<\/strong> \u5f13\u72b6\u306e\u7709\u3001\u539a\u3044\u4e0b\u5507\u3001\u7a81\u304d\u51fa\u305f\u820c\u3002\u53e3\u89d2\u304c\u4e0b\u304c\u3063\u3066\u3044\u308b\u3053\u3068\u304c\u591a\u3044\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u795e\u7d4c\u767a\u9054\u3068\u77e5\u80fd<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u91cd\u5ea6\u306e\u77e5\u7684\u969c\u5bb3:<\/strong> \u307b\u3068\u3093\u3069\u306e\u75c7\u4f8b\u3067\u4e2d\u7b49\u5ea6\u304b\u3089\u91cd\u5ea6\u306e\u77e5\u7684\u969c\u5bb3\u304c\u898b\u3089\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u8457\u3057\u3044\u8a00\u8a9e\u767a\u9054\u306e\u9045\u6ede:<\/strong> \u591a\u304f\u306e\u60a3\u8005\u3067\u8a00\u8449\u306e\u767a\u9054\u304c\u975e\u5e38\u306b\u9045\u304f\u3001\u767a\u8a9e\u304c\u5168\u304f\u306a\u3044\u304b\u3001\u3042\u3063\u3066\u3082\u6570\u5358\u8a9e\u306b\u7559\u307e\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u4e00\u65b9\u3067\u3001\u8eab\u632f\u308a\u3084\u7d75\u30ab\u30fc\u30c9\u306a\u3069\u306e\u975e\u8a00\u8a9e\u7684\u306a\u7406\u89e3\u529b\u306f\u6bd4\u8f03\u7684\u4fdd\u305f\u308c\u308b\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u7b4b\u7dca\u5f35\u4f4e\u4e0b\uff08Hypotonia\uff09:<\/strong> \u4e73\u5150\u671f\u306b\u4f53\u304c\u975e\u5e38\u306b\u67d4\u3089\u304b\u304f\u3001\u9996\u3059\u308f\u308a\u3084\u304a\u5ea7\u308a\u3001\u6b69\u884c\u306a\u3069\u306e\u904b\u52d5\u767a\u9054\u304c\u5927\u5e45\u306b\u9045\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u884c\u52d5\u30fb\u7cbe\u795e\u7684\u7279\u5fb4<\/strong><\/p>\n\n\n\n<p>\u6210\u9577\u3068\u3068\u3082\u306b\u3001\u7279\u6709\u306e\u884c\u52d5\u30d1\u30bf\u30fc\u30f3\u304c\u76ee\u7acb\u3064\u3088\u3046\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u81ea\u9589\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u75c7\uff08ASD\uff09\u7684\u7279\u6027:<\/strong> \u5bfe\u4eba\u76f8\u4e92\u4ea4\u6e09\u306e\u56f0\u96e3\u3055\u3084\u3001\u5f37\u3044\u3053\u3060\u308f\u308a\u3001\u5e38\u540c\u884c\u52d5\u304c\u898b\u3089\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u7761\u7720\u969c\u5bb3:<\/strong> \u5bdd\u4ed8\u304d\u304c\u60aa\u3044\u3001\u591c\u4e2d\u306b\u4f55\u5ea6\u3082\u76ee\u304c\u899a\u3081\u308b\u306a\u3069\u3001\u7761\u7720\u30ea\u30ba\u30e0\u306e\u4e71\u308c\u304c\u591a\u304f\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u7cbe\u795e\u75c7\u72b6\uff08\u9752\u5e74\u671f\u4ee5\u964d\uff09:<\/strong> 10\u4ee3\u5f8c\u534a\u304b\u3089\u6210\u4eba\u671f\u306b\u304b\u3051\u3066\u3001\u6025\u6fc0\u306a\u610f\u6b32\u4f4e\u4e0b\u3001\u7121\u53cd\u5fdc\uff08\u7dca\u5f35\u75c5\uff0f\u30ab\u30bf\u30c8\u30cb\u30a2\u69d8\u75c7\u72b6\uff09\u3001\u3042\u308b\u3044\u306f\u7cbe\u795e\u75c5\u69d8\u75c7\u72b6\u3092\u5448\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u3001\u672c\u75c7\u5019\u7fa4\u306e\u7ba1\u7406\u306b\u304a\u3044\u3066\u91cd\u8981\u306a\u8ab2\u984c\u3068\u306a\u3063\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u75db\u307f\u306b\u5bfe\u3059\u308b\u53cd\u5fdc\u306e\u920d\u3055:<\/strong> \u75db\u307f\u3092\u611f\u3058\u306b\u304f\u3044\u3001\u3042\u308b\u3044\u306f\u53cd\u5fdc\u304c\u8584\u3044\u3053\u3068\u304c\u3042\u308a\u3001\u602a\u6211\u3084\u75c5\u6c17\u306e\u767a\u898b\u304c\u9045\u308c\u308b\u30ea\u30b9\u30af\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>4. \u305d\u306e\u4ed6\u306e\u8eab\u4f53\u7684\u5408\u4f75\u75c7<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5148\u5929\u6027\u5fc3\u75be\u60a3\uff08\u7d0425%\u301c30%\uff09:<\/strong> \u5fc3\u623f\u4e2d\u9694\u6b20\u640d\u75c7\u3001\u5fc3\u5ba4\u4e2d\u9694\u6b20\u640d\u75c7\u306a\u3069\u3002<\/li>\n\n\n\n<li><strong>\u6ccc\u5c3f\u751f\u6b96\u5668\u7570\u5e38:<\/strong> \u7537\u5150\u306b\u304a\u3051\u308b\u505c\u7559\u7cbe\u5de3\u3084\u5c3f\u9053\u4e0b\u88c2\u3001\u814e\u81d3\u306e\u5f62\u6210\u7570\u5e38\u3002<\/li>\n\n\n\n<li><strong>\u3066\u3093\u304b\u3093:<\/strong> \u5e7c\u5150\u671f\u304b\u3089\u5b66\u7ae5\u671f\u306b\u304b\u3051\u3066\u3051\u3044\u308c\u3093\u767a\u4f5c\u3092\u767a\u75c7\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u80a5\u6e80:<\/strong> \u98df\u3079\u904e\u304e\u3084\u4ee3\u8b1d\u306e\u5f71\u97ff\u306b\u3088\u308a\u3001\u5b66\u7ae5\u671f\u4ee5\u964d\u306b\u80a5\u6e80\u306b\u306a\u308a\u3084\u3059\u3044\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6613\u611f\u67d3\u6027:<\/strong> \u4e2d\u8033\u708e\u3084\u547c\u5438\u5668\u611f\u67d3\u75c7\u3092\u7e70\u308a\u8fd4\u3057\u3084\u3059\u3044\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u539f\u56e0<\/strong><\/h2>\n\n\n\n<p><strong>EHMT1\u907a\u4f1d\u5b50\u306e\u6b20\u5931\u307e\u305f\u306f\u5909\u7570\uff08\u5e38\u67d3\u8272\u4f53\u9855\u6027\u907a\u4f1d\u5f62\u5f0f\uff09<\/strong><\/p>\n\n\n\n<p>KLEFS1\u3092\u5f15\u304d\u8d77\u3053\u3059\u907a\u4f1d\u7684\u7570\u5e38\u306b\u306f\u5927\u304d\u304f\u5206\u3051\u30662\u3064\u306e\u30d1\u30bf\u30fc\u30f3\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ol class=\"wp-block-list\">\n<li>9q34.3\u5fae\u5c0f\u6b20\u5931\uff08\u7d0475%\uff09:<br>9\u756a\u67d3\u8272\u4f53\u672b\u7aef\u306eEHMT1\u907a\u4f1d\u5b50\u3092\u542b\u3080\u9818\u57df\u304c\u3054\u3063\u305d\u308a\u3068\u6b20\u3051\u3066\u3044\u308b\u72b6\u614b\u3067\u3059\u3002\u6b20\u5931\u7bc4\u56f2\u304c\u5e83\u3044\u5834\u5408\u3001\u5468\u8fba\u306e\u4ed6\u306e\u907a\u4f1d\u5b50\u3082\u5931\u308f\u308c\u308b\u305f\u3081\u3001\u75c7\u72b6\u304c\u3088\u308a\u91cd\u7be4\u306b\u306a\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>EHMT1\u907a\u4f1d\u5b50\u5185\u5909\u7570\uff08\u7d0425%\uff09:<br>\u67d3\u8272\u4f53\u306e\u69cb\u9020\u306b\u306f\u7570\u5e38\u3042\u308a\u307e\u305b\u3093\u304c\u3001EHMT1\u907a\u4f1d\u5b50\u306e\u914d\u5217\u306e\u4e2d\u306b\u5c0f\u3055\u306a\u66f8\u304d\u63db\u3048\uff08\u70b9\u5909\u7570\u306a\u3069\uff09\u304c\u3042\u308a\u3001\u907a\u4f1d\u5b50\u304c\u6b63\u3057\u304f\u6a5f\u80fd\u3057\u306a\u3044\u72b6\u614b\u3067\u3059\u3002<\/li>\n<\/ol>\n\n\n\n<p><strong>\u3010\u907a\u4f1d\u5f62\u5f0f\u3011<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5e38\u67d3\u8272\u4f53\u9855\u6027\uff08\u512a\u6027\uff09\u907a\u4f1d:<\/strong> \u907a\u4f1d\u5b50\u306e\u30da\u30a2\u306e\u3046\u3061\u7247\u65b9\u306b\u7570\u5e38\u304c\u3042\u308b\u3060\u3051\u3067\u767a\u75c7\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u65b0\u751f\u7a81\u7136\u5909\u7570:<\/strong> \u307b\u3068\u3093\u3069\u306e\u75c7\u4f8b\uff0895%\u4ee5\u4e0a\uff09\u306b\u304a\u3044\u3066\u3001\u4e21\u89aa\u306e\u67d3\u8272\u4f53\u3084\u907a\u4f1d\u5b50\u306f\u6b63\u5e38\u3067\u3042\u308a\u3001\u53d7\u7cbe\u306e\u904e\u7a0b\u3067\u5076\u7136\u306b\u751f\u3058\u305f\u3082\u306e\u3067\u3059\u3002\u3053\u306e\u5834\u5408\u3001\u6b21\u5b50\uff08\u304d\u3087\u3046\u3060\u3044\uff09\u3078\u306e\u518d\u767a\u30ea\u30b9\u30af\u306f\u6975\u3081\u3066\u4f4e\u3044\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u4f8b\u5916:<\/strong> \u7a00\u306b\u3001\u89aa\u304c\u75c7\u72b6\u306e\u51fa\u306b\u304f\u3044\u300c\u30e2\u30b6\u30a4\u30af\u300d\u72b6\u614b\u3067\u3042\u308b\u5834\u5408\u3084\u3001\u5747\u8861\u578b\u8ee2\u5ea7\u306e\u4fdd\u56e0\u8005\u3067\u3042\u308b\u5834\u5408\u306b\u306f\u3001\u518d\u767a\u30ea\u30b9\u30af\u3092\u8003\u616e\u3059\u308b\u5fc5\u8981\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\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\u304b\u3089\u672c\u75c7\u5019\u7fa4\u3092\u7591\u3044\u3001\u907a\u4f1d\u5b66\u7684\u691c\u67fb\u3067\u78ba\u5b9a\u8a3a\u65ad\u3092\u884c\u3044\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>9q34.3\u9818\u57df\u306e\u5fae\u5c0f\u306a\u6b20\u5931\u3092\u691c\u51fa\u3059\u308b\u305f\u3081\u306e\u7b2c\u4e00\u9078\u629e\u306e\u691c\u67fb\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u6b21\u4e16\u4ee3\u30b7\u30fc\u30b1\u30f3\u30b5\u30fc\uff08NGS\uff09\u306b\u3088\u308b\u5168\u30a8\u30af\u30bd\u30fc\u30e0\u89e3\u6790:<br>\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u3067\u6b20\u5931\u304c\u898b\u3064\u304b\u3089\u306a\u3044\u5834\u5408\u3001EHMT1\u907a\u4f1d\u5b50\u5185\u306e\u5fae\u5c0f\u306a\u5909\u7570\u3092\u63a2\u3059\u305f\u3081\u306b\u884c\u308f\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u81e8\u5e8a\u8a55\u4fa1:<br>\u7279\u5fb4\u7684\u306a\u9854\u8c8c\u3001\u7b4b\u7dca\u5f35\u4f4e\u4e0b\u3001\u8a00\u8a9e\u9045\u6ede\u306e\u4e09\u5fb4\u5019\u3092\u78ba\u8a8d\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u5408\u4f75\u75c7\u306e\u691c\u7d22:<br>\u5fc3\u30a8\u30b3\u30fc\u3001\u8179\u90e8\u30a8\u30b3\u30fc\u3001\u8074\u529b\u691c\u67fb\u3001\u8996\u529b\u691c\u67fb\u3092\u8a3a\u65ad\u78ba\u5b9a\u5f8c\u306b\u884c\u3044\u307e\u3059\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>\u73fe\u4ee3\u306e\u533b\u5b66\u306b\u304a\u3044\u3066\u3001<em>EHMT1<\/em>\u907a\u4f1d\u5b50\u306e\u6a5f\u80fd\u3092\u6b63\u5e38\u306b\u623b\u3059\u6839\u672c\u7684\u306a\u6cbb\u7642\u6cd5\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u6cbb\u7642\u306f\u3001\u5404\u75c7\u72b6\u306b\u5bfe\u3059\u308b**\u300c\u591a\u8077\u7a2e\u9023\u643a\u306b\u3088\u308b\u5305\u62ec\u7684\u306a\u30b5\u30dd\u30fc\u30c8\uff08\u5bfe\u75c7\u7642\u6cd5\uff09\u300d**\u304c\u4e2d\u5fc3\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u767a\u9054\u652f\u63f4\u30fb\u7642\u80b2\uff08\u65e9\u671f\u4ecb\u5165\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u8a00\u8a9e\u7642\u6cd5\uff08ST\uff09:<\/strong> \u767a\u8a71\u304c\u56f0\u96e3\u306a\u5834\u5408\u304c\u591a\u3044\u305f\u3081\u3001\u30b5\u30a4\u30f3\u8a00\u8a9e\u3001\u7d75\u30ab\u30fc\u30c9\uff08PECS\uff09\u3001\u97f3\u58f0\u51fa\u529b\u88c5\u7f6e\uff08AAC\uff09\u306a\u3069\u3092\u7528\u3044\u305f\u4ee3\u66ff\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u624b\u6bb5\u306e\u7372\u5f97\u3092\u76ee\u6307\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u7406\u5b66\u7642\u6cd5\uff08PT\uff09\u304a\u3088\u3073\u4f5c\u696d\u7642\u6cd5\uff08OT\uff09:<\/strong> \u7b4b\u7dca\u5f35\u4f4e\u4e0b\u306b\u5bfe\u3059\u308b\u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3\u3092\u884c\u3044\u3001\u904b\u52d5\u6a5f\u80fd\u3084\u65e5\u5e38\u751f\u6d3b\u52d5\u4f5c\u3092\u652f\u63f4\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u65e9\u671f\u6559\u80b2:<\/strong> \u500b\u5225\u306e\u6559\u80b2\u652f\u63f4\u8a08\u753b\u306b\u57fa\u3065\u304d\u3001\u5c0f\u96c6\u56e3\u3067\u306e\u793e\u4f1a\u6027\u8a13\u7df4\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u5185\u79d1\u30fb\u5916\u79d1\u7684\u6cbb\u7642<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5fc3\u75be\u60a3\u30fb\u6ccc\u5c3f\u5668\u75be\u60a3:<\/strong> \u5408\u4f75\u75c7\u306e\u7a0b\u5ea6\u306b\u5fdc\u3058\u3001\u5916\u79d1\u7684\u624b\u8853\u3084\u7d4c\u904e\u89b3\u5bdf\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u3066\u3093\u304b\u3093:<\/strong> \u6297\u3066\u3093\u304b\u3093\u85ac\u306b\u3088\u308b\u9069\u5207\u306a\u767a\u4f5c\u7ba1\u7406\u3002<\/li>\n\n\n\n<li><strong>\u611f\u67d3\u75c7\u7ba1\u7406:<\/strong> \u96e3\u8074\u306e\u539f\u56e0\u3068\u306a\u308b\u4e2d\u8033\u708e\u306e\u65e9\u671f\u6cbb\u7642\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u884c\u52d5\u30fb\u7cbe\u795e\u9762\u3078\u306e\u4ecb\u5165<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u884c\u52d5\u7642\u6cd5:<\/strong> ASD\u7684\u7279\u6027\u3084\u30d1\u30cb\u30c3\u30af\u306b\u5bfe\u3057\u3001\u5fdc\u7528\u884c\u52d5\u5206\u6790\uff08ABA\uff09\u306a\u3069\u3092\u7528\u3044\u305f\u74b0\u5883\u8abf\u6574\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u7cbe\u795e\u79d1\u7684\u30b1\u30a2:<\/strong> \u9752\u5e74\u671f\u4ee5\u964d\u306b\u898b\u3089\u308c\u308b\u7121\u53cd\u5fdc\uff08\u30ab\u30bf\u30c8\u30cb\u30a2\uff09\u3084\u60c5\u7dd2\u4e0d\u5b89\u5b9a\u306b\u5bfe\u3057\u3001\u9069\u5207\u306a\u85ac\u7269\u7642\u6cd5\uff08\u30d9\u30f3\u30be\u30b8\u30a2\u30bc\u30d4\u30f3\u7cfb\u3084\u975e\u5b9a\u578b\u6297\u7cbe\u795e\u75c5\u85ac\u306a\u3069\uff09\u3092\u5c02\u9580\u533b\u306e\u6307\u5c0e\u306e\u3082\u3068\u691c\u8a0e\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u7761\u7720\u7ba1\u7406:<\/strong> \u898f\u5247\u6b63\u3057\u3044\u751f\u6d3b\u7fd2\u6163\u306e\u78ba\u7acb\u306b\u52a0\u3048\u3001\u5fc5\u8981\u306b\u5fdc\u3058\u3066\u30e1\u30e9\u30c8\u30cb\u30f3\u53d7\u5bb9\u4f53\u4f5c\u52d5\u85ac\u306a\u3069\u306e\u51e6\u65b9\u3092\u691c\u8a0e\u3057\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>\u5bb6\u65cf\u306b\u5bfe\u3057\u3001\u75be\u60a3\u306e\u539f\u56e0\u3084\u6b21\u5b50\u306e\u518d\u767a\u30ea\u30b9\u30af\u3001\u5c06\u6765\u306e\u898b\u901a\u3057\u306b\u3064\u3044\u3066\u6b63\u78ba\u306a\u60c5\u5831\u63d0\u4f9b\u3068\u5fc3\u7406\u7684\u30b5\u30dd\u30fc\u30c8\u3092\u884c\u3044\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> \u91cd\u7be4\u306a\u5fc3\u75be\u60a3\u306a\u3069\u306e\u5408\u4f75\u75c7\u304c\u9069\u5207\u306b\u7ba1\u7406\u3055\u308c\u308c\u3070\u3001\u5bff\u547d\u305d\u306e\u3082\u306e\u306f\u4e00\u822c\u306e\u65b9\u3068\u5909\u308f\u3089\u306a\u3044\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u81ea\u7acb\u6027:<\/strong> \u307b\u3068\u3093\u3069\u306e\u60a3\u8005\u306b\u304a\u3044\u3066\u3001\u751f\u6daf\u3092\u901a\u3058\u3066\u65e5\u5e38\u751f\u6d3b\u5168\u822c\u306b\u308f\u305f\u308b\u4e00\u5b9a\u306e\u30b5\u30dd\u30fc\u30c8\uff08\u4ecb\u52a9\uff09\u304c\u5fc5\u8981\u3068\u306a\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u751f\u6d3b\u306e\u8cea\uff08QOL\uff09:<\/strong> \u8a00\u8a9e\u306b\u4ee3\u308f\u308b\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u624b\u6bb5\u3092\u7372\u5f97\u3059\u308b\u3053\u3068\u3001\u304a\u3088\u3073\u9752\u5e74\u671f\u4ee5\u964d\u306e\u7cbe\u795e\u7684\u5b89\u5b9a\u3092\u7dad\u6301\u3059\u308b\u3053\u3068\u304c\u3001\u672c\u4eba\u3068\u5bb6\u65cf\u306eQOL\u3092\u4fdd\u3064\u4e0a\u3067\u6975\u3081\u3066\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>Kleefstra syndrome 1 (KLEFS1) \u306f\u3001\u8133\u306e\u767a\u9054\u306e\u30b9\u30a4\u30c3\u30c1\u3092\u8abf\u7bc0\u3059\u308b\u300cEHMT1\u300d\u3068\u3044\u3046\u907a\u4f1d\u5b50\u304c\u3046\u307e\u304f\u50cd\u304b\u306a\u3044\u3053\u3068\u3067\u8d77\u3053\u308b\u3001\u751f\u307e\u308c\u3064\u304d\u306e\u4f53\u8cea\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u300c\u8a00\u8449\u304c\u306a\u304b\u306a\u304b\u51fa\u306a\u3044\u300d\u300c\u4f53\u304c\u67d4\u3089\u304b\u304f\u904b\u52d5\u304c\u3086\u3063\u304f\u308a\u300d\u300c\u72ec\u7279\u306e\u30c1\u30e3\u30fc\u30df\u30f3\u30b0\u306a\u9854\u7acb\u3061\u300d\u3068\u3044\u3063\u305f\u7279\u5fb4\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u3053\u308c\u3089\u306f\u3059\u3079\u3066EHMT1\u306e\u50cd\u304d\u304c\u534a\u5206\u306b\u306a\u3063\u3066\u3044\u308b\u3053\u3068\u306b\u7531\u6765\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u8a3a\u65ad\u3092\u53d7\u3051\u305f\u3054\u5bb6\u65cf\u306b\u3068\u3063\u3066\u3001\u5c06\u6765\u3078\u306e\u4e0d\u5b89\u306f\u8a08\u308a\u77e5\u308c\u306a\u3044\u3082\u306e\u304c\u3042\u308b\u304b\u3068\u601d\u3044\u307e\u3059\u3002\u3057\u304b\u3057\u3001KLEFS1\u306e\u304a\u5b50\u69d8\u305f\u3061\u306f\u3001\u8a00\u8449\u306f\u306a\u304f\u3066\u3082\u8c4a\u304b\u306a\u611f\u60c5\u3092\u6301\u3061\u3001\u5468\u56f2\u3068\u306e\u3064\u306a\u304c\u308a\u3092\u6c42\u3081\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u5927\u5207\u306a\u306e\u306f\u3001\u65e9\u671f\u304b\u3089\u8a00\u8a9e\u7642\u6cd5\u3084\u30ea\u30cf\u30d3\u30ea\u3092\u53d6\u308a\u5165\u308c\u3001\u304a\u5b50\u69d8\u304c\u300c\u4f1d\u3048\u305f\u3044\u300d\u3068\u3044\u3046\u6c17\u6301\u3061\u3092\u5b9f\u73fe\u3067\u304d\u308b\u30c4\u30fc\u30eb\u3092\u898b\u3064\u3051\u3066\u3042\u3052\u308b\u3053\u3068\u3067\u3059\u3002\u307e\u305f\u3001\u9752\u5e74\u671f\u306b\u898b\u3089\u308c\u308b\u7cbe\u795e\u7684\u306a\u5909\u5316\u306b\u3064\u3044\u3066\u3082\u3001\u3042\u3089\u304b\u3058\u3081\u77e5\u8b58\u3092\u6301\u3063\u3066\u5c02\u9580\u533b\u3068\u3064\u306a\u304c\u3063\u3066\u304a\u304f\u3053\u3068\u3067\u3001\u843d\u3061\u7740\u3044\u3066\u5bfe\u5fdc\u3067\u304d\u308b\u3088\u3046\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u540c\u3058\u75be\u60a3\u3092\u6301\u3064\u3054\u5bb6\u65cf\u306e\u30cd\u30c3\u30c8\u30ef\u30fc\u30af\u3082\u3001\u4e16\u754c\u7684\u306b\u5e83\u304c\u308a\u3064\u3064\u3042\u308a\u307e\u3059\u3002\u5c02\u9580\u533b\u30c1\u30fc\u30e0\u3068\u5171\u306b\u3001\u304a\u5b50\u69d8\u306e\u6b69\u5e45\u306b\u5408\u308f\u305b\u305f\u6210\u9577\u3092\u9577\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>Kleefstra, T., et al.<\/strong> (2006). <em>Disruption of the gene EHMT1, encoding a histone methyltransferase, causes autosomal dominant mental retardation with distinct dysmorphic features.<\/em> American Journal of Human Genetics.\n<ul class=\"wp-block-list\">\n<li>\uff08\u30af\u30ea\u30fc\u30d5\u30b9\u30c8\u30e9\u75c7\u5019\u7fa4\u306e\u5b9a\u7fa9\u3068EHMT1\u907a\u4f1d\u5b50\u306e\u7279\u5b9a\u306b\u95a2\u3059\u308b\u6700\u91cd\u8981\u8ad6\u6587\u3002\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Kleefstra, T., et al.<\/strong> (2009). <em>Further clinical and molecular delineation of the 9q subtelomeric deletion syndrome.<\/em>\n<ul class=\"wp-block-list\">\n<li>\uff089q34.3\u6b20\u5931\u306e\u7bc4\u56f2\u3068\u81e8\u5e8a\u75c7\u72b6\u306e\u76f8\u95a2\u306b\u95a2\u3059\u308b\u8a73\u7d30\u306a\u5831\u544a\u3002\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Vermeulen, C., et al.<\/strong> (2017). <em>Kleefstra syndrome.<\/em> GeneReviews\u00ae [Internet].\n<ul class=\"wp-block-list\">\n<li>\uff08\u8a3a\u65ad\u57fa\u6e96\u3001\u7ba1\u7406\u6307\u91dd\u3001\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u306b\u95a2\u3059\u308b\u6700\u65b0\u306e\u6a19\u6e96\u7684\u30c7\u30fc\u30bf\u30d9\u30fc\u30b9\u3002\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Willemsen, M. H., et al.<\/strong> (2012). <em>The 9q34.3 microdeletion syndrome: A recognizable phenotype.<\/em>\n<ul class=\"wp-block-list\">\n<li>\uff08\u9854\u8c8c\u7684\u7279\u5fb4\u3084\u767a\u9054\u6bb5\u968e\u306e\u8a55\u4fa1\u306b\u95a2\u3059\u308b\u5305\u62ec\u7684\u306a\u7814\u7a76\u3002\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Unique (The Rare Chromosome Disorder Support Group)<\/strong>: <em>Kleefstra Syndrome: A guide for parents and professionals<\/em>.\n<ul class=\"wp-block-list\">\n<li>\uff08\u5e0c\u5c11\u67d3\u8272\u4f53\u7570\u5e38\u306e\u652f\u63f4\u56e3\u4f53\u306b\u3088\u308b\u3001\u3054\u5bb6\u65cf\u5411\u3051\u306e\u5b9f\u8df5\u7684\u30ac\u30a4\u30c9\u3002\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Ieraci, A., et al.<\/strong> (2020). <em>Psychiatric symptoms and behavioral problems in Kleefstra syndrome.<\/em>\n<ul class=\"wp-block-list\">\n<li>\uff08\u9752\u5e74\u671f\u4ee5\u964d\u306e\u7cbe\u795e\u75c7\u72b6\u3068\u30ab\u30bf\u30c8\u30cb\u30a2\u306b\u95a2\u3059\u308b\u6700\u65b0\u306e\u7814\u7a76\u77e5\u898b\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-17356","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\/17356","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\/17356\/revisions"}],"predecessor-version":[{"id":17358,"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/17356\/revisions\/17358"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/media?parent=17356"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}