{"id":17394,"date":"2026-01-22T03:34:09","date_gmt":"2026-01-22T03:34:09","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/gene\/?post_type=genetic-screening&#038;p=17394"},"modified":"2026-01-22T03:34:09","modified_gmt":"2026-01-22T03:34:09","slug":"mowat-wilson-syndrome-mows","status":"publish","type":"genetic-screening","link":"https:\/\/www.hiro-clinic.or.jp\/gene\/genetic-screening\/mowat-wilson-syndrome-mows\/","title":{"rendered":"Mowat-Wilson syndrome (MOWS)"},"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>\u30e2\u30ef\u30c3\u30c8\u30fb\u30a6\u30a3\u30eb\u30bd\u30f3\u75c7\u5019\u7fa4<\/strong><\/li>\n\n\n\n<li><strong>ZEB2\u95a2\u9023\u75be\u60a3\uff08ZEB2-associated disorder\uff09<\/strong><\/li>\n\n\n\n<li><strong>2q22.3\u5fae\u5c0f\u6b20\u5931\u75c7\u5019\u7fa4\uff082q22.3 microdeletion syndrome\uff09<\/strong><\/li>\n\n\n\n<li><strong>\u30d2\u30eb\u30b7\u30e5\u30b9\u30d7\u30eb\u30f3\u30b0\u75c5\u30fb\u7cbe\u795e\u9045\u6ede\u30fb\u9854\u8c8c\u7570\u5e38\u75c7\u5019\u7fa4<\/strong><\/li>\n<\/ul>\n\n\n\n<ol class=\"wp-block-list\">\n<li><strong>\u6b74\u53f2\u7684\u80cc\u666f:<\/strong> 1998\u5e74\u306b\u30aa\u30fc\u30b9\u30c8\u30e9\u30ea\u30a2\u306e\u533b\u5e2bMowat\u3068Wilson\u3089\u306b\u3088\u3063\u3066\u5831\u544a\u3055\u308c\u305f\u6bd4\u8f03\u7684\u65b0\u3057\u3044\u75be\u60a3\u6982\u5ff5\u3067\u3059\u3002\u304b\u3064\u3066\u306f\u539f\u56e0\u4e0d\u660e\u306e\u77e5\u7684\u969c\u5bb3\u3068\u3057\u3066\u6271\u308f\u308c\u3066\u3044\u307e\u3057\u305f\u304c\u3001\u73fe\u5728\u306f\u539f\u56e0\u907a\u4f1d\u5b50\u304c\u7279\u5b9a\u3055\u308c\u3001\u72ec\u7acb\u3057\u305f\u75be\u60a3\u3068\u3057\u3066\u78ba\u7acb\u3055\u308c\u3066\u3044\u307e\u3059\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>2\u756a\u67d3\u8272\u4f53 \u9577\u8155\uff08q\uff0922.3\u9818\u57df<\/strong><\/p>\n\n\n\n<p>\u672c\u75c7\u5019\u7fa4\u306f\u30012\u756a\u67d3\u8272\u4f53\u9577\u8155\u306e\u300cq22.3\u300d\u3068\u3044\u3046\u4f4d\u7f6e\u306b\u3042\u308b <strong>ZEB2\u907a\u4f1d\u5b50<\/strong> \u306e\u6a5f\u80fd\u4e0d\u5168\uff08<strong>\u5fae\u5c0f\u6b20\u5931<\/strong>\u307e\u305f\u306f\u5909\u7570\uff09\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\u3068ZEB2\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>ZEB2<\/em> (Zinc Finger E-Box Binding Homeobox 2)<\/li>\n\n\n\n<li><strong>\u5225\u540d:<\/strong> <em>ZFHX1B<\/em>, <em>SIP1<\/em><\/li>\n\n\n\n<li><strong>\u5f79\u5272:<\/strong> <em>ZEB2<\/em>\u907a\u4f1d\u5b50\u306f\u3001\u80da\u767a\u751f\uff08\u8d64\u3061\u3083\u3093\u304c\u304a\u8179\u306e\u4e2d\u3067\u5f62\u4f5c\u3089\u308c\u308b\u6642\u671f\uff09\u306b\u304a\u3044\u3066\u6975\u3081\u3066\u91cd\u8981\u306a\u300c\u8ee2\u5199\u56e0\u5b50\u300d\u3068\u3044\u3046\u30bf\u30f3\u30d1\u30af\u8cea\u3092\u4f5c\u308a\u307e\u3059\u3002\u3053\u306e\u30bf\u30f3\u30d1\u30af\u8cea\u306f\u3001\u7279\u306b\u300c\u795e\u7d4c\u5824\u7d30\u80de\uff08\u3057\u3093\u3051\u3044\u3066\u3044\u3055\u3044\u307c\u3046\uff09\u300d\u3068\u3044\u3046\u3001\u5c06\u6765\u306e\u8133\u3001\u672b\u68a2\u795e\u7d4c\u3001\u5fc3\u81d3\u306e\u4e00\u90e8\u3001\u9854\u306e\u9aa8\u683c\u306a\u3069\u306b\u306a\u308b\u7d30\u80de\u306e\u79fb\u52d5\u3084\u5206\u5316\u3092\u30b3\u30f3\u30c8\u30ed\u30fc\u30eb\u3059\u308b\u53f8\u4ee4\u5854\u306e\u5f79\u5272\u3092\u679c\u305f\u3057\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u75c5\u614b\u30e1\u30ab\u30cb\u30ba\u30e0:<\/strong> <em>ZEB2<\/em>\u907a\u4f1d\u5b50\u304c<strong>\u5fae\u5c0f\u6b20\u5931<\/strong>\u3084\u5909\u7570\u306b\u3088\u3063\u30661\u3064\u5206\u5931\u308f\u308c\u308b\uff08\u30cf\u30d7\u30ed\u4e0d\u5168\uff09\u3068\u3001\u795e\u7d4c\u5824\u7d30\u80de\u304c\u6b63\u3057\u3044\u5834\u6240\u3078\u79fb\u52d5\u3067\u304d\u306a\u304f\u306a\u308a\u307e\u3059\u3002\u4f8b\u3048\u3070\u3001\u8178\u306e\u795e\u7d4c\u304c\u672b\u7aef\u307e\u3067\u5c4a\u304b\u306a\u3044\u3068\u300c\u30d2\u30eb\u30b7\u30e5\u30b9\u30d7\u30eb\u30f3\u30b0\u75c5\u300d\u306b\u306a\u308a\u3001\u8133\u306e\u5f62\u6210\u304c\u4e0d\u5341\u5206\u3060\u3068\u300c\u77e5\u7684\u969c\u5bb3\u3084\u8133\u6881\u6b20\u640d\u300d\u304c\u751f\u3058\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>\u7d0450,000\u4eba \u301c 70,000\u4eba\u306b1\u4eba<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5e0c\u5c11\u75be\u60a3:<\/strong> \u4e16\u754c\u5168\u4f53\u3067\u306e\u6b63\u78ba\u306a\u51fa\u751f\u983b\u5ea6\u306f\u672a\u78ba\u5b9a\u3067\u3059\u304c\u3001\u63a8\u5b9a\u3067\u306f\u4e0a\u8a18\u306e\u3088\u3046\u306a\u983b\u5ea6\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u73fe\u5728\u307e\u3067\u306b\u6570\u767e\u4f8b\u4ee5\u4e0a\u306e\u5831\u544a\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u8a3a\u65ad\u306e\u73fe\u72b6:<\/strong> \u4ee5\u524d\u306f\u8a3a\u65ad\u304c\u96e3\u3057\u304b\u3063\u305f\u306e\u3067\u3059\u304c\u3001\u7279\u5fb4\u7684\u306a\u9854\u8c8c\uff08\u30cf\u30c3\u30d4\u30fc\u306a\u8868\u60c5\u3001\u8033\u4ecb\u306e\u5909\u5f62\u306a\u3069\uff09\u306e\u8a8d\u77e5\u5ea6\u304c\u4e0a\u304c\u308a\u3001\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u691c\u67fb\u3084\u6b21\u4e16\u4ee3\u30b7\u30fc\u30b1\u30f3\u30b5\u30fc\u306e\u666e\u53ca\u306b\u3088\u308a\u3001\u8a3a\u65ad\u3055\u308c\u308b\u75c7\u4f8b\u304c\u6025\u901f\u306b\u5897\u3048\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6027\u5dee:<\/strong> \u7537\u5973\u5dee\u306f\u306a\u304f\u3001\u3069\u3061\u3089\u306e\u6027\u5225\u3067\u3082\u540c\u7b49\u306b\u767a\u75c7\u3057\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>Mowat-Wilson\u75c7\u5019\u7fa4\u306f\u3001\u8eab\u4f53\u7684\u7279\u5fb4\u3001\u5185\u90e8\u5947\u5f62\u3001\u795e\u7d4c\u767a\u9054\u306e3\u3064\u306e\u5074\u9762\u306b\u304a\u3044\u3066\u9855\u8457\u306a\u7279\u5fb4\u3092\u793a\u3057\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\u6700\u5927\u306e\u6c7a\u3081\u624b\u3068\u306a\u308b\u6240\u898b\u3067\u3059\u3002\u5e74\u9f62\u3068\u3068\u3082\u306b\u7279\u5fb4\u304c\u3088\u308a\u660e\u78ba\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u7709:<\/strong> \u7709\u306e\u5185\u5074\u304c\u592a\u304f\u3001\u5916\u5074\u304c\u7d30\u3044\u3001\u3042\u308b\u3044\u306f\u5de6\u53f3\u304c\u3064\u306a\u304c\u3063\u3066\u3044\u308b\uff08\u9023\u7709\uff09\u3002<\/li>\n\n\n\n<li><strong>\u76ee:<\/strong> \u773c\u9593\u958b\u96e2\uff08\u76ee\u304c\u96e2\u308c\u3066\u3044\u308b\uff09\u3001\u5927\u304d\u306a\u76ee\u304c\u7279\u5fb4\u7684\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u9f3b:<\/strong> \u9f3b\u6839\u90e8\u304c\u5e83\u304f\u3001\u9f3b\u5148\u304c\u4e38\u3044\u3002<\/li>\n\n\n\n<li><strong>\u8033:<\/strong> <strong>\u8033\u5782\uff08\u8033\u305f\u3076\uff09\u304c\u540a\u308a\u4e0a\u304c\u3063\u3066\u3001\u4e2d\u592e\u304c\u304f\u307c\u3093\u3067\u3044\u308b\uff08\u6319\u4e0a\u3057\u305f\u8033\u305f\u3076\uff09<\/strong>\u3002\u3053\u308c\u306f\u672c\u75c7\u5019\u7fa4\u306b\u975e\u5e38\u306b\u7279\u7570\u7684\u306a\u6240\u898b\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u53e3:<\/strong> \u5e38\u306b\u53e3\u3092\u958b\u3051\u3066\u3044\u308b\u3053\u3068\u304c\u591a\u304f\u3001\u4e0b\u5507\u304c\u539a\u304f\u3001\u7a81\u304d\u51fa\u3057\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u3042\u3054:<\/strong> \u3068\u304c\u3063\u305f\u984e\uff08\u5c16\u3063\u305f\u30aa\u30c8\u30ac\u30a4\uff09\u304c\u7279\u5fb4\u7684\u3067\u3059\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\u3092\u4f34\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u8a00\u8a9e\u767a\u9054\u306e\u8457\u3057\u3044\u9045\u308c:<\/strong> \u8a00\u8449\u306b\u3088\u308b\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u306f\u975e\u5e38\u306b\u56f0\u96e3\u306a\u5834\u5408\u304c\u591a\u3044\u3067\u3059\u304c\u3001\u7406\u89e3\u529b\u306f\u767a\u8a71\u80fd\u529b\u3092\u4e0a\u56de\u308b\u3053\u3068\u304c\u3042\u308a\u3001\u8eab\u632f\u308a\u3084\u30b5\u30a4\u30f3\u3067\u306e\u4ea4\u6d41\u304c\u53ef\u80fd\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u30cf\u30c3\u30d4\u30fc\u306a\u6c17\u8cea:<\/strong> \u983b\u7e41\u306b\u7b11\u9854\u3092\u898b\u305b\u3001\u975e\u5e38\u306b\u793e\u4ea4\u7684\u3067\u660e\u308b\u3044\u6027\u683c\uff08Happy demeanor\uff09\u3092\u6301\u3064\u3053\u3068\u304c\u591a\u3044\u3068\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u7b4b\u7dca\u5f35\u4f4e\u4e0b:<\/strong> \u4e73\u5150\u671f\u306b\u4f53\u304c\u67d4\u3089\u304b\u304f\u3001\u904b\u52d5\u767a\u9054\uff08\u6b69\u884c\u306a\u3069\uff09\u304c\u9045\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u5148\u5929\u6027\u5947\u5f62\uff08\u5185\u90e8\u5408\u4f75\u75c7\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u30d2\u30eb\u30b7\u30e5\u30b9\u30d7\u30eb\u30f3\u30b0\u75c5\uff08\u7d0440%\u301c60%\uff09:<\/strong> \u8178\u306e\u795e\u7d4c\u304c\u6b20\u640d\u3057\u3066\u3044\u308b\u305f\u3081\u3001\u9811\u56fa\u306a\u4fbf\u79d8\u3084\u8178\u9589\u585e\u3092\u5f15\u304d\u8d77\u3053\u3057\u307e\u3059\u3002\u51fa\u751f\u76f4\u5f8c\u306b\u5224\u660e\u3059\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5148\u5929\u6027\u5fc3\u75be\u60a3\uff08\u7d0450%\uff09:<\/strong> \u80ba\u52d5\u8108\u72ed\u7a84\u75c7\u3001\u5fc3\u5ba4\u4e2d\u9694\u6b20\u640d\u75c7\uff08VSD\uff09\u3001\u52d5\u8108\u7ba1\u958b\u5b58\u75c7\uff08PDA\uff09\u306a\u3069\u3002<\/li>\n\n\n\n<li><strong>\u6ccc\u5c3f\u751f\u6b96\u5668\u7570\u5e38:<\/strong> \u7537\u5150\u306b\u304a\u3051\u308b\u5c3f\u9053\u4e0b\u88c2\uff08\u7d0450%\u4ee5\u4e0a\uff09\u3084\u505c\u7559\u7cbe\u5de3\u3001\u814e\u81d3\u306e\u5f62\u6210\u4e0d\u5168\u3002<\/li>\n\n\n\n<li><strong>\u5c0f\u982d\u75c7:<\/strong> \u8133\u306e\u5bb9\u7a4d\u304c\u5c0f\u3055\u304f\u3001\u982d\u56f2\u304c\u6a19\u6e96\u3092\u4e0b\u56de\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u8133\u306e\u69cb\u9020\u7570\u5e38:<\/strong> \u8133\u6881\u6b20\u640d\uff08\u5de6\u53f3\u306e\u8133\u3092\u3064\u306a\u3050\u90e8\u5206\u306e\u6b20\u640d\uff09\u3084\u8133\u5ba4\u62e1\u5927\u304c\u898b\u3089\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>4. \u305d\u306e\u4ed6\u306e\u75c7\u72b6<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u3066\u3093\u304b\u3093\uff08\u7d0470%\u4ee5\u4e0a\uff09:<\/strong> \u5e7c\u5150\u671f\u304b\u3089\u5b66\u7ae5\u671f\u306b\u304b\u3051\u3066\u767a\u75c7\u3059\u308b\u3053\u3068\u304c\u591a\u304f\u3001\u85ac\u7269\u7642\u6cd5\u304c\u5fc5\u8981\u306b\u306a\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u4f4e\u8eab\u9577:<\/strong> \u6210\u9577\u30db\u30eb\u30e2\u30f3\u5206\u6ccc\u306b\u95a2\u308f\u3089\u305a\u3001\u5168\u4f53\u7684\u306b\u5c0f\u67c4\u306a\u4f53\u683c\u3068\u306a\u308b\u50be\u5411\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>ZEB2\u907a\u4f1d\u5b50\u306e\u5fae\u5c0f\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<ul class=\"wp-block-list\">\n<li><strong>\u907a\u4f1d\u5f62\u5f0f:<\/strong><strong>\u5e38\u67d3\u8272\u4f53\u9855\u6027\uff08\u512a\u6027\uff09\u907a\u4f1d<\/strong> \u3067\u3059\u3002\n<ul class=\"wp-block-list\">\n<li>\u907a\u4f1d\u5b50\u306e\u30da\u30a2\u306e\u3046\u3061\u3001\u7247\u65b9\u306e\u7570\u5e38\u3060\u3051\u3067\u767a\u75c7\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u5909\u7570\u306e\u30d1\u30bf\u30fc\u30f3:<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>\u5fae\u5c0f\u6b20\u5931:<\/strong> 2q22.3\u9818\u57df\u3092\u542b\u3080\u67d3\u8272\u4f53\u306e\u4e00\u90e8\u304c\u6b20\u3051\u3066\u3044\u308b\u30b1\u30fc\u30b9\u3002<\/li>\n\n\n\n<li><strong>\u907a\u4f1d\u5b50\u5185\u5909\u7570:<\/strong> <em>ZEB2<\/em>\u907a\u4f1d\u5b50\u306e\u914d\u5217\u305d\u306e\u3082\u306e\u306b\u5c0f\u3055\u306a\u66f8\u304d\u63db\u3048\uff08\u70b9\u5909\u7570\u3084\u5c0f\u3055\u306a\u6b20\u5931\u30fb\u633f\u5165\uff09\u304c\u3042\u308b\u30b1\u30fc\u30b9\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li>\u65b0\u751f\u7a81\u7136\u5909\u7570\uff08\u307b\u307c100%\uff09:<br>\u307b\u3068\u3093\u3069\u3059\u3079\u3066\u306e\u75c7\u4f8b\u306b\u304a\u3044\u3066\u3001\u4e21\u89aa\u306e\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\u3057\u305f\u304c\u3063\u3066\u3001\u6b21\u306b\u751f\u307e\u308c\u308b\u304a\u5b50\u69d8\uff08\u304d\u3087\u3046\u3060\u3044\uff09\u3078\u306e\u518d\u767a\u30ea\u30b9\u30af\u306f\u6975\u3081\u3066\u4f4e\u3044\uff081%\u672a\u6e80\uff09\u3068\u3055\u308c\u3066\u3044\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\u7684\u306a\u9854\u8c8c\u306e\u7279\u5fb4\u304b\u3089\u672c\u75c7\u5019\u7fa4\u3092\u7591\u3044\u3001\u907a\u4f1d\u5b50\u691c\u67fb\u306b\u3088\u3063\u3066\u78ba\u5b9a\u8a3a\u65ad\u3092\u884c\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u81e8\u5e8a\u8a55\u4fa1:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u7279\u5fb4\u7684\u306a\u9854\u8c8c\uff08\u7279\u306b\u8033\u305f\u3076\u306e\u5f62\uff09\u3002<\/li>\n\n\n\n<li>\u77e5\u7684\u969c\u5bb3\u3068\u5c0f\u982d\u75c7\u3002<\/li>\n\n\n\n<li>\u30d2\u30eb\u30b7\u30e5\u30b9\u30d7\u30eb\u30f3\u30b0\u75c5\u3084\u5c3f\u9053\u4e0b\u88c2\u306e\u5408\u4f75\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li>\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u67d3\u8272\u4f53\u691c\u67fb\uff08CMA\uff09:<br>2q22.3\u9818\u57df\u306e\u5fae\u5c0f\u6b20\u5931\u3092\u691c\u51fa\u3059\u308b\u305f\u3081\u306e\u691c\u67fb\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u6b21\u4e16\u4ee3\u30b7\u30fc\u30b1\u30f3\u30b5\u30fc\u306b\u3088\u308b\u5358\u4e00\u907a\u4f1d\u5b50\u89e3\u6790\uff08\u5168\u30a8\u30af\u30bd\u30fc\u30e0\u89e3\u6790\u306a\u3069\uff09:<br>\u67d3\u8272\u4f53\u306e\u6b20\u5931\u304c\u898b\u3064\u304b\u3089\u306a\u3044\u5834\u5408\u3001ZEB2\u907a\u4f1d\u5b50\u5185\u306e\u7d30\u304b\u306a\u5909\u7570\u3092\u7279\u5b9a\u3059\u308b\u305f\u3081\u306b\u884c\u308f\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u753b\u50cf\u8a3a\u65ad:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u982d\u90e8MRI\uff1a\u8133\u6881\u6b20\u640d\u3084\u8133\u306e\u69cb\u9020\u78ba\u8a8d\u3002<\/li>\n\n\n\n<li>\u5fc3\u30a8\u30b3\u30fc\uff1a\u5148\u5929\u6027\u5fc3\u75be\u60a3\u306e\u691c\u7d22\u3002<\/li>\n\n\n\n<li>\u8179\u90e8\u8d85\u97f3\u6ce2\uff1a\u814e\u5947\u5f62\u306e\u691c\u7d22\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>\u73fe\u4ee3\u306e\u533b\u5b66\u306b\u304a\u3044\u3066\u3001<em>ZEB2<\/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. \u5916\u79d1\u7684\u6cbb\u7642<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u30d2\u30eb\u30b7\u30e5\u30b9\u30d7\u30eb\u30f3\u30b0\u75c5\u306e\u624b\u8853:<\/strong> \u795e\u7d4c\u306e\u306a\u3044\u8178\u7ba1\u3092\u5207\u9664\u3057\u3001\u6b63\u5e38\u306a\u8178\u3092\u3064\u306a\u3050\u624b\u8853\u304c\u5fc5\u8981\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6ccc\u5c3f\u5668\u79d1\u7684\u624b\u8853:<\/strong> \u5c3f\u9053\u4e0b\u88c2\u306b\u5bfe\u3059\u308b\u5f62\u6210\u624b\u8853\uff08\u901a\u5e381\u301c2\u6b73\u9803\uff09\u3002<\/li>\n\n\n\n<li><strong>\u5fc3\u81d3\u624b\u8853:<\/strong> \u5fc3\u75be\u60a3\u306e\u91cd\u75c7\u5ea6\u306b\u5fdc\u3058\u305f\u5916\u79d1\u7684\u6cbb\u7642\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u3066\u3093\u304b\u3093\u306e\u7ba1\u7406<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u6297\u3066\u3093\u304b\u3093\u85ac\u306b\u3088\u308b\u9069\u5207\u306a\u767a\u4f5c\u30b3\u30f3\u30c8\u30ed\u30fc\u30eb\u3002\u5b9a\u671f\u7684\u306a\u8133\u6ce2\u691c\u67fb\u304c\u5fc5\u8981\u3067\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \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>\u7406\u5b66\u7642\u6cd5\uff08PT\uff09\u304a\u3088\u3073\u4f5c\u696d\u7642\u6cd5\uff08OT\uff09:<\/strong> \u7b4b\u7dca\u5f35\u4f4e\u4e0b\u3084\u904b\u52d5\u767a\u9054\u9045\u6ede\u306b\u5bfe\u3059\u308b\u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3\u3002<\/li>\n\n\n\n<li><strong>\u8a00\u8a9e\u7642\u6cd5\uff08ST\uff09:<\/strong> \u767a\u8a9e\u304c\u96e3\u3057\u3044\u305f\u3081\u3001\u65e9\u671f\u304b\u3089\u4ee3\u66ff\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u624b\u6bb5\uff08\u30b5\u30a4\u30f3\u8a00\u8a9e\u3001\u7d75\u30ab\u30fc\u30c9\u3001\u8996\u7dda\u5165\u529b\u88c5\u7f6e\u306a\u3069\uff09\u306e\u7372\u5f97\u3092\u652f\u63f4\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u7279\u5225\u652f\u63f4\u6559\u80b2:<\/strong> \u77e5\u7684\u30ec\u30d9\u30eb\u3084\u500b\u3005\u306e\u7279\u6027\u306b\u5408\u308f\u305b\u305f\u500b\u5225\u306e\u6559\u80b2\u652f\u63f4\u8a08\u753b\uff08IEP\uff09\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>4. \u7d99\u7d9a\u7684\u306a\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u773c\u79d1\u30fb\u8033\u9f3b\u79d1:<\/strong> \u659c\u8996\u3084\u96e3\u8074\u306e\u5b9a\u671f\u7684\u30c1\u30a7\u30c3\u30af\u3002<\/li>\n\n\n\n<li><strong>\u5185\u79d1\u30fb\u5c0f\u5150\u79d1:<\/strong> \u9811\u56fa\u306a\u4fbf\u79d8\uff08\u30d2\u30eb\u30b7\u30e5\u30b9\u30d7\u30eb\u30f3\u30b0\u75c5\u306e\u624b\u8853\u5f8c\u3082\u7d9a\u304f\u3053\u3068\u304c\u3042\u308b\uff09\u306e\u7ba1\u7406\u3084\u3001\u6210\u9577\u306e\u30e2\u30cb\u30bf\u30ea\u30f3\u30b0\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\u3084\u8853\u5f8c\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\u5927\u304d\u304f\u5909\u308f\u3089\u306a\u3044\u3068\u8003\u3048\u3089\u308c\u3066\u304a\u308a\u3001\u591a\u304f\u306e\u65b9\u304c\u6210\u4eba\u671f\u3092\u8fce\u3048\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u751f\u6d3b\u306e\u8cea\uff08QOL\uff09:<\/strong> \u8a00\u8a9e\u306b\u3088\u308b\u610f\u601d\u758e\u901a\u306f\u56f0\u96e3\u3067\u3059\u304c\u3001\u30cf\u30c3\u30d4\u30fc\u306a\u6c17\u8cea\u3092\u6301\u3061\u3001\u5bb6\u65cf\u3084\u5468\u56f2\u3068\u826f\u597d\u306a\u95a2\u4fc2\u3092\u7bc9\u304f\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002\u751f\u6daf\u306b\u308f\u305f\u308b\u4e00\u5b9a\u306e\u30b5\u30dd\u30fc\u30c8\u304c\u5fc5\u8981\u3067\u3059\u304c\u3001\u9069\u5207\u306a\u652f\u63f4\u306b\u3088\u308a\u7a4f\u3084\u304b\u306a\u751f\u6d3b\u3092\u9001\u308b\u3053\u3068\u304c\u53ef\u80fd\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>Mowat-Wilson syndrome (MOWS) \u306f\u30012\u756a\u67d3\u8272\u4f53\u306b\u3042\u308b\u300cZEB2\u300d\u3068\u3044\u3046\u3001\u4f53\u306e\u591a\u304f\u306e\u30d1\u30fc\u30c4\u3092\u4f5c\u308b\u305f\u3081\u306e\u53f8\u4ee4\u5854\u907a\u4f1d\u5b50\u304c\u3046\u307e\u304f\u50cd\u304b\u306a\u3044\u3053\u3068\u3067\u8d77\u3053\u308b\u75c5\u6c17\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u300c\u5927\u304d\u306a\u76ee\u3068\u3001\u5c11\u3057\u6301\u3061\u4e0a\u304c\u3063\u305f\u72ec\u7279\u306a\u5f62\u306e\u8033\u305f\u3076\u300d\u300c\u3044\u3064\u3082\u30cb\u30b3\u30cb\u30b3\u3068\u3057\u305f\u660e\u308b\u3044\u8868\u60c5\u300d\u300c\u8a00\u8449\u306f\u3086\u3063\u304f\u308a\u3060\u3051\u3069\u3001\u4eba\u306e\u6c17\u6301\u3061\u3092\u3088\u304f\u7406\u89e3\u3059\u308b\u529b\u300d\u306a\u3069\u304c\u3001\u3053\u306e\u75c5\u6c17\u306e\u304a\u5b50\u69d8\u305f\u3061\u306e\u6301\u3064\u7d20\u6674\u3089\u3057\u3044\u500b\u6027\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u4e00\u65b9\u3067\u3001\u751f\u307e\u308c\u3064\u304d\u8178\u306e\u795e\u7d4c\u304c\u8db3\u308a\u306a\u304b\u3063\u305f\u308a\uff08\u30d2\u30eb\u30b7\u30e5\u30b9\u30d7\u30eb\u30f3\u30b0\u75c5\uff09\u3001\u5fc3\u81d3\u306b\u7a74\u304c\u958b\u3044\u3066\u3044\u305f\u308a\u3059\u308b\u3053\u3068\u3082\u3042\u308a\u3001\u5c0f\u3055\u3044\u3046\u3061\u306b\u624b\u8853\u3092\u5fc5\u8981\u3068\u3059\u308b\u3053\u3068\u3082\u5c11\u306a\u304f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u8a3a\u65ad\u540d\u3092\u77e5\u308b\u3053\u3068\u306f\u3001\u304a\u5b50\u69d8\u304c\u62b1\u3048\u308b\u56f0\u96e3\u306e\u539f\u56e0\u3092\u7406\u89e3\u3057\u3001\u5c06\u6765\u8d77\u3053\u308a\u3046\u308b\u3066\u3093\u304b\u3093\u306a\u3069\u306e\u5408\u4f75\u75c7\u306b\u5099\u3048\u308b\u305f\u3081\u306e\u300c\u5730\u56f3\u300d\u3092\u624b\u306b\u5165\u308c\u308b\u3053\u3068\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u8a00\u8449\u3067\u306e\u3084\u308a\u53d6\u308a\u304c\u96e3\u3057\u304f\u3066\u3082\u3001\u5f7c\u3089\u306f\u7b11\u9854\u3084\u8eab\u632f\u308a\u3067\u4e00\u751f\u61f8\u547d\u306b\u611b\u3092\u4f1d\u3048\u3066\u304f\u308c\u307e\u3059\u3002\u5c02\u9580\u533b\u30c1\u30fc\u30e0\u3068\u624b\u3092\u53d6\u308a\u5408\u3044\u3001\u304a\u5b50\u69d8\u304c\u305d\u306e\u300c\u30cf\u30c3\u30d4\u30fc\u306a\u6c17\u8cea\u300d\u306e\u307e\u307e\u6210\u9577\u3067\u304d\u308b\u3088\u3046\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>Mowat, D. R., Wilson, M. J., et al.<\/strong> (1998). <em>Mowat-Wilson syndrome: a discrete clinical entity.<\/em> Journal of Medical Genetics.\n<ul class=\"wp-block-list\">\n<li>\uff08\u30e2\u30ef\u30c3\u30c8\u535a\u58eb\u3068\u30a6\u30a3\u30eb\u30bd\u30f3\u535a\u58eb\u306b\u3088\u308b\u6700\u521d\u306e\u75c7\u4f8b\u5831\u544a\u3068\u5b9a\u7fa9\u3002\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Cacheux, V., et al.<\/strong> (2001). <em>Loss-of-function mutations in SIP1 encoding a zinc-finger-homeodomain protein cause Mowat-Wilson syndrome.<\/em> American Journal of Human Genetics.\n<ul class=\"wp-block-list\">\n<li>\uff08\u539f\u56e0\u907a\u4f1d\u5b50ZEB2\/SIP1\u306e\u7279\u5b9a\u306b\u95a2\u3059\u308b\u753b\u671f\u7684\u306a\u8ad6\u6587\u3002\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Zweier, C., et al.<\/strong> (2002). <em>Clinical and mutational spectrum of Mowat-Wilson syndrome.<\/em> European Journal of Medical Genetics.\n<ul class=\"wp-block-list\">\n<li>\uff08\u81e8\u5e8a\u75c7\u72b6\u3068\u907a\u4f1d\u5b50\u5909\u7570\u306e\u591a\u69d8\u6027\u3092\u307e\u3068\u3081\u305f\u5927\u898f\u6a21\u306a\u7814\u7a76\u3002\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Cordelli, D. M., et al.<\/strong> (2013). <em>Epilepsy in Mowat-Wilson syndrome: Clinical and electroencephalographic features.<\/em>\n<ul class=\"wp-block-list\">\n<li>\uff08MOWS\u306b\u304a\u3051\u308b\u3066\u3093\u304b\u3093\u306e\u7279\u5fb4\u3068\u7ba1\u7406\u306b\u95a2\u3059\u308b\u5c02\u9580\u7684\u306a\u7814\u7a76\u3002\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>GeneReviews\u00ae [Internet]<\/strong>: <em>Mowat-Wilson Syndrome<\/em>. (NCBI).\n<ul class=\"wp-block-list\">\n<li>\uff08\u6700\u65b0\u306e\u533b\u5b66\u7684\u77e5\u898b\u306b\u57fa\u3065\u304f\u8a3a\u65ad\u30fb\u7ba1\u7406\u30fb\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u306e\u6a19\u6e96\u7684\u30c7\u30fc\u30bf\u30d9\u30fc\u30b9\u3002\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Mowat-Wilson Syndrome Foundation<\/strong>: <em>A Guide for Families and Professionals<\/em>.\n<ul class=\"wp-block-list\">\n<li>\uff08\u56fd\u969b\u7684\u306a\u60a3\u8005\u5bb6\u65cf\u4f1a\u306b\u3088\u308b\u5b9f\u8df5\u7684\u30ac\u30a4\u30c9\u30d6\u30c3\u30af\u3002\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Unique (The Rare Chromosome Disorder Support Group)<\/strong>: <em>Mowat-Wilson Syndrome: 2q22.3 deletions<\/em>.\n<ul class=\"wp-block-list\">\n<li>\uff08\u5e0c\u5c11\u67d3\u8272\u4f53\u7570\u5e38\u652f\u63f4\u56e3\u4f53\u306b\u3088\u308b\u3054\u5bb6\u65cf\u5411\u3051\u306e\u89e3\u8aac\u8cc7\u6599\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-17394","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\/17394","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":1,"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/17394\/revisions"}],"predecessor-version":[{"id":17395,"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/17394\/revisions\/17395"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/media?parent=17394"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}