{"id":33628,"date":"2022-07-11T17:21:22","date_gmt":"2022-07-11T08:21:22","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?page_id=33628"},"modified":"2026-05-08T11:48:58","modified_gmt":"2026-05-08T02:48:58","slug":"retinitis-pigmentosa-59-dhdds-related","status":"publish","type":"genetic-diseases","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/retinitis-pigmentosa-59-dhdds-related\/","title":{"rendered":"\u7db2\u819c\u8272\u7d20\u5909\u6027\u75c7-59"},"content":{"rendered":"\n<div style=\"height:30px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p class=\"has-text-align-center\"><sup>\u7db2\u819c\u8272\u7d20\u5909\u6027\u75c759\u578b\uff08RP59\uff09\u306f\u3001DHDDS\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u308b\u907a\u4f1d\u6027\u75be\u60a3\u3067\u3001\u9032\u884c\u6027\u306e\u8996\u529b\u4f4e\u4e0b\u3092\u7279\u5fb4\u3068\u3057\u307e\u3059\u3002\u7279\u306b\u3001\u591c\u76f2\u75c7\u3084\u5468\u8fba\u8996\u91ce\u306e\u55aa\u5931\u304b\u3089\u59cb\u307e\u308a\u3001\u6700\u7d42\u7684\u306b\u306f\u8996\u899a\u306e\u5b8c\u5168\u306a\u6d88\u5931\u306b\u81f3\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u672c\u8a18\u4e8b\u3067\u306f\u3001RP59\u306e\u767a\u75c7\u30e1\u30ab\u30cb\u30ba\u30e0\u3001\u75c7\u72b6\u3001\u8a3a\u65ad\u6cd5\u3001\u6cbb\u7642\u306e\u73fe\u72b6\u306b\u3064\u3044\u3066\u8a73\u3057\u304f\u89e3\u8aac\u3057\u307e\u3059\u3002<\/sup><\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u907a\u4f1d\u5b50\u30fb\u75be\u60a3\u540d<\/h2>\n\n\n\n<p>DHDDS\uff5cRetinitis Pigmentosa 59 (DHDDS-related)<\/p>\n\n\n\n<p><sup>Rod-Cone Dystrophy; RCD <\/sup><\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u6982\u8981 | Overview<\/h2>\n\n\n\n<p>\u7db2\u819c\u8272\u7d20\u5909\u6027\u75c759\u578b\uff08RP59\uff09\u306f\u3001DHDDS\u907a\u4f1d\u5b50\u306e\u75c5\u7684\u5909\u7570\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u308b\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d\u5f62\u5f0f\u306e\u7db2\u819c\u8272\u7d20\u5909\u6027\u75c7\uff08Retinitis Pigmentosa, RP\uff09\u306e\u4e00\u7a2e\u3067\u3059\u3002\u3053\u306eDHDDS\u907a\u4f1d\u5b50\u306f\u3001\u30c7\u30d2\u30c9\u30ed\u30c9\u30eb\u30b3\u30ea\u30eb\u4e8c\u30ea\u30f3\u9178\u5408\u6210\u9175\u7d20\uff08dehydrodolichyl diphosphate synthase, DDS\uff09\u3092\u30b3\u30fc\u30c9\u3057\u3066\u304a\u308a\u3001\u3053\u306e\u9175\u7d20\u306f\u30c9\u30eb\u30b3\u30fc\u30eb\uff08dolichol\uff09\u3068\u3044\u3046\u7269\u8cea\u306e\u5408\u6210\u306b\u4e0d\u53ef\u6b20\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u30c9\u30eb\u30b3\u30fc\u30eb\u306f\u3001\u7d30\u80de\u5185\u306e\u5c0f\u80de\u4f53\uff08endoplasmic reticulum, ER\uff09\u306b\u304a\u3044\u3066\u884c\u308f\u308c\u308b\u7cd6\u9396\u4fee\u98fe\uff08\u30bf\u30f3\u30d1\u30af\u8cea\u306e\u30b0\u30ea\u30b3\u30b7\u30eb\u5316\uff09\u306b\u91cd\u8981\u306a\u5f79\u5272\u3092\u679c\u305f\u3057\u307e\u3059\u3002\u7cd6\u9396\u4fee\u98fe\u306f\u7d30\u80de\u6a5f\u80fd\u306e\u6b63\u5e38\u306a\u7dad\u6301\u306b\u4e0d\u53ef\u6b20\u306a\u30d7\u30ed\u30bb\u30b9\u3067\u3042\u308a\u3001\u3053\u306e\u904e\u7a0b\u304c\u7834\u7dbb\u3059\u308b\u3068\u3001\u8996\u7d30\u80de\u3092\u306f\u3058\u3081\u3068\u3059\u308b\u591a\u304f\u306e\u7d30\u80de\u306b\u7570\u5e38\u304c\u751f\u3058\u307e\u3059\u3002<\/p>\n\n\n\n<p>RP59\u306e\u4e3b\u306a\u7279\u5fb4\u306f\u3001\u7db2\u819c\u306e\u9032\u884c\u6027\u5909\u6027\u3067\u3042\u308a\u3001\u7279\u306b\u6746\u4f53\uff08\u30ed\u30c3\u30c9\uff09\u8996\u7d30\u80de\u304c\u6700\u521d\u306b\u5f71\u97ff\u3092\u53d7\u3051\u3001\u305d\u306e\u5f8c\u9310\u4f53\uff08\u30b3\u30fc\u30f3\uff09\u8996\u7d30\u80de\u3082\u4e8c\u6b21\u7684\u306b\u5931\u308f\u308c\u307e\u3059\u3002\u3053\u308c\u306b\u3088\u308a\u3001\u591c\u76f2\u75c7\uff08\u6697\u3044\u5834\u6240\u3067\u898b\u3048\u306b\u304f\u304f\u306a\u308b\uff09\u3084\u4e2d\u9593\u5468\u8fba\u8996\u91ce\u306e\u55aa\u5931\u304b\u3089\u59cb\u307e\u308a\u3001\u6700\u7d42\u7684\u306b\u306f\u8996\u899a\u306e\u5b8c\u5168\u306a\u6d88\u5931\u306b\u81f3\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u3053\u306e\u75be\u60a3\u306f\u3001\u7db2\u819c\u306e\u8272\u7d20\u6c88\u7740\u7570\u5e38\uff08pigmentary retinopathies\uff09\u3092\u7279\u5fb4\u3068\u3059\u308b\u75be\u60a3\u7fa4\u306b\u5206\u985e\u3055\u308c\u3001\u773c\u5e95\u691c\u67fb\uff08fundoscopy\uff09\u306b\u3088\u308a\u3001\u7db2\u819c\u306e\u7570\u5e38\u306a\u8272\u7d20\u6c88\u7740\u304c\u89b3\u5bdf\u3055\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u75ab\u5b66 | Epidemiology<\/h2>\n\n\n\n<p>\u7db2\u819c\u8272\u7d20\u5909\u6027\u75c7\uff08RP\uff09\u306f\u3001\u907a\u4f1d\u6027\u7db2\u819c\u75be\u60a3\u306e\u4e2d\u3067\u6700\u3082\u4e00\u822c\u7684\u306a\u75be\u60a3\u306e\u4e00\u3064\u3067\u3042\u308a\u3001\u4e16\u754c\u7684\u306a\u767a\u75c7\u983b\u5ea6\u306f3,000\u301c4,500\u4eba\u306b1\u4eba\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002RP\u306e\u907a\u4f1d\u5f62\u5f0f\u306b\u306f\u3001<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u5e38\u67d3\u8272\u4f53\u512a\u6027\uff08autosomal dominant\uff09<\/li>\n\n\n\n<li>\u5e38\u67d3\u8272\u4f53\u52a3\u6027\uff08autosomal recessive\uff09<\/li>\n\n\n\n<li>X\u67d3\u8272\u4f53\u9023\u9396\uff08X-linked\uff09<\/li>\n<\/ul>\n\n\n\n<div style=\"height:14px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>\u306e3\u7a2e\u985e\u304c\u3042\u308a\u3001\u5e38\u67d3\u8272\u4f53\u52a3\u6027\u578b\uff08RP59\u3092\u542b\u3080\uff09\u306f\u5168\u4f53\u306e\u7d0420\u301c30%\u3092\u5360\u3081\u307e\u3059\u3002\u73fe\u5728\u307e\u3067\u306b50\u7a2e\u985e\u4ee5\u4e0a\u306e\u907a\u4f1d\u5b50\u304cRP\u306e\u539f\u56e0\u3068\u3057\u3066\u540c\u5b9a\u3055\u308c\u3066\u304a\u308a\u3001\u907a\u4f1d\u7684\u591a\u69d8\u6027\uff08genetic heterogeneity\uff09\u304c\u975e\u5e38\u306b\u9ad8\u3044\u75be\u60a3\u3067\u3042\u308b\u3053\u3068\u304c\u77e5\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u75c5\u56e0 | Etiology<\/h2>\n\n\n\n<p>RP59\u306f\u30011\u756a\u67d3\u8272\u4f53\uff08<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/1p-36-deletion-syndrome\/\">1p36<\/a>.11\uff09\u4e0a\u306b\u4f4d\u7f6e\u3059\u308bDHDDS\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u3063\u3066\u767a\u75c7\u3057\u307e\u3059\u3002\u3053\u306eDHDDS\u907a\u4f1d\u5b50\u306f\u3001NUS1\u907a\u4f1d\u5b50\u3068\u3068\u3082\u306b\u3001\u30c7\u30d2\u30c9\u30ed\u30c9\u30eb\u30b3\u30ea\u30eb\u4e8c\u30ea\u30f3\u9178\u5408\u6210\u9175\u7d20\uff08DDS\uff09\u8907\u5408\u4f53\u3092\u5f62\u6210\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306eDDS\u8907\u5408\u4f53\u306f\u3001<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u30a4\u30bd\u30da\u30f3\u30c6\u30cb\u30eb\u4e8c\u30ea\u30f3\u9178\uff08isopentenyl pyrophosphate, IPP\uff09\u3068<\/li>\n\n\n\n<li>\u30d5\u30a1\u30eb\u30cd\u30b7\u30eb\u4e8c\u30ea\u30f3\u9178\uff08farnesyl pyrophosphate, FPP\uff09<\/li>\n<\/ul>\n\n\n\n<div style=\"height:14px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>\u3092\u7d50\u5408\u3055\u305b\u3001\u30c7\u30d2\u30c9\u30ed\u30c9\u30eb\u30b3\u30ea\u30eb\u4e8c\u30ea\u30f3\u9178\uff08dehydrodolichyl diphosphate, Dedol-PP\uff09\u3092\u5408\u6210\u3059\u308b\u50cd\u304d\u3092\u6301\u3061\u307e\u3059\u3002Dedol-PP\u306f\u3001\u30c9\u30eb\u30b3\u30fc\u30eb\u30ea\u30f3\u9178\uff08dolichol phosphate\uff09\u306e\u524d\u99c6\u4f53\u3067\u3042\u308a\u3001\u3053\u306e\u7269\u8cea\u306fN-\u578b\u7cd6\u9396\u4fee\u98fe\uff08N-glycosylation\uff09\u306b\u4e0d\u53ef\u6b20\u3067\u3059\u3002\u3053\u306e\u7cd6\u9396\u4fee\u98fe\u306f\u3001\u30bf\u30f3\u30d1\u30af\u8cea\u306e\u5b89\u5b9a\u6027\u3084\u6a5f\u80fd\u306b\u5f71\u97ff\u3092\u4e0e\u3048\u307e\u3059\u3002<\/p>\n\n\n\n<p>DHDDS\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u308a\u30c9\u30eb\u30b3\u30fc\u30eb\u5408\u6210\u304c\u963b\u5bb3\u3055\u308c\u308b\u3068\u3001N-\u578b\u7cd6\u9396\u4fee\u98fe\u304c\u6b63\u5e38\u306b\u884c\u308f\u308c\u306a\u304f\u306a\u308a\u307e\u3059\u3002\u3053\u308c\u306b\u3088\u308a\u3001\u8996\u7d30\u80de\u306b\u304a\u3044\u3066\u7279\u306b\u91cd\u8981\u306a\u30ed\u30c9\u30d7\u30b7\u30f3\uff08rhodopsin\uff09\u306e\u7cd6\u9396\u4fee\u98fe\u304c\u640d\u306a\u308f\u308c\u3001\u305d\u306e\u7d50\u679c\u3068\u3057\u3066\u8996\u7d30\u80de\u306e\u6a5f\u80fd\u304c\u4f4e\u4e0b\u3057\u3001RP59\u306b\u7279\u5fb4\u7684\u306a\u7db2\u819c\u5909\u6027\u304c\u9032\u884c\u3059\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u75c7\u72b6 | Symptoms<\/h2>\n\n\n\n<p>RP59\u306e\u81e8\u5e8a\u75c7\u72b6\u306f\u3001\u4ed6\u306e\u7db2\u819c\u8272\u7d20\u5909\u6027\u75c7\u3068\u5171\u901a\u3059\u308b\u7279\u5fb4\u3092\u6301\u3061\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u591c\u76f2\u75c7\uff08nyctalopia\uff09:\n<ul class=\"wp-block-list\">\n<li>\u6700\u3082\u65e9\u671f\u306b\u73fe\u308c\u308b\u75c7\u72b6\u3067\u3001\u901a\u5e38\u601d\u6625\u671f\u301c\u82e5\u5e74\u6210\u4eba\u671f\u306b\u767a\u75c7\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li>\u9032\u884c\u6027\u306e\u5468\u8fba\u8996\u91ce\u55aa\u5931\uff08peripheral vision loss\uff09:\n<ul class=\"wp-block-list\">\n<li>\u6700\u521d\u306f\u4e2d\u9593\u5468\u8fba\u8996\u91ce\uff08\u8996\u754c\u306e\u4e2d\u592e\u304b\u3089\u5c11\u3057\u5916\u5074\uff09\u304c\u5931\u308f\u308c\u3001\u5f90\u3005\u306b\u8996\u91ce\u304c\u72ed\u307e\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li>\u4e2d\u5fc3\u8996\u529b\u306e\u4f4e\u4e0b\uff08central vision deterioration\uff09:\n<ul class=\"wp-block-list\">\n<li>\u672b\u671f\u306b\u306f\u4e2d\u5fc3\u8996\u529b\u3082\u4f4e\u4e0b\u3057\u3001\u6210\u4eba\u671f\u306b\u306f\u6cd5\u7684\u5931\u660e\uff08legal blindness\uff09\u306b\u81f3\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li>\u7db2\u819c\u306e\u8272\u7d20\u6c88\u7740\uff08retinal pigment deposits\uff09:\n<ul class=\"wp-block-list\">\n<li>\u773c\u5e95\u691c\u67fb\u3067\u306f\u3001\u9aa8\u5c0f\u4f53\u69d8\uff08bone spicule-like\uff09\u306e\u8272\u7d20\u6c88\u7740\u304c\u4e2d\u9593\u5468\u8fba\u7db2\u819c\u306b\u898b\u3089\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<div style=\"height:14px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>\u307e\u305f\u3001\u4e00\u90e8\u306e\u60a3\u8005\u3067\u306f\u3001\u7cd6\u9396\u7570\u5e38\u306b\u95a2\u9023\u3059\u308b\u8efd\u5ea6\u306e\u5168\u8eab\u75c7\u72b6\uff08\u9aa8\u683c\u7570\u5e38\u306a\u3069\uff09\u304c\u307f\u3089\u308c\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u3053\u308c\u3089\u306fRP59\u306e\u4e3b\u8981\u306a\u7279\u5fb4\u3068\u306f\u3055\u308c\u3066\u3044\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u691c\u67fb\u30fb\u8a3a\u65ad | Tests &amp; Diagnosis<\/h2>\n\n\n\n<p>RP59\u306e\u8a3a\u65ad\u306b\u306f\u3001\u4ee5\u4e0b\u306e\u65b9\u6cd5\u304c\u7528\u3044\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u773c\u5e95\u691c\u67fb\uff08fundoscopic examination\uff09:\n<ul class=\"wp-block-list\">\n<li>\u7db2\u819c\u306e\u8272\u7d20\u6c88\u7740\u7570\u5e38\u3084\u8996\u795e\u7d4c\u306e\u84bc\u767d\u5316\uff08optic nerve pallor\uff09\u3092\u78ba\u8a8d\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li>\u7db2\u819c\u96fb\u56f3\uff08Electroretinography, ERG\uff09:\n<ul class=\"wp-block-list\">\n<li>\u6746\u4f53\u30fb\u9310\u4f53\u8996\u7d30\u80de\u306e\u5fdc\u7b54\u304c\u4f4e\u4e0b\u307e\u305f\u306f\u6d88\u5931\u3057\u3066\u3044\u308b\u3053\u3068\u3092\u78ba\u8a8d\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li>\u8996\u91ce\u691c\u67fb\uff08visual field testing\uff09:\n<ul class=\"wp-block-list\">\n<li>\u5468\u8fba\u8996\u91ce\u306e\u6b20\u640d\u306e\u7a0b\u5ea6\u3092\u8a55\u4fa1\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li>\u5149\u5e72\u6e09\u65ad\u5c64\u8a08\uff08Optical Coherence Tomography, OCT\uff09:\n<ul class=\"wp-block-list\">\n<li>\u7db2\u819c\u306e\u83f2\u8584\u5316\uff08thinning\uff09\u3084\u8996\u7d30\u80de\u306e\u55aa\u5931\u3092\u53ef\u8996\u5316\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li>\u907a\u4f1d\u5b50\u691c\u67fb\uff08genetic testing\uff09:\n<ul class=\"wp-block-list\">\n<li>DHDDS\u907a\u4f1d\u5b50\u306e\u5909\u7570\u3092\u7279\u5b9a\u3057\u3001RP59\u306e\u78ba\u5b9a\u8a3a\u65ad\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\">\u6cbb\u7642\u6cd5\u3068\u7ba1\u7406 | Treatment &amp; Management<\/h2>\n\n\n\n<p>\u73fe\u5728\u3001RP59\u306e\u6839\u672c\u7684\u306a\u6cbb\u7642\u6cd5\u306f\u78ba\u7acb\u3055\u308c\u3066\u304a\u3089\u305a\u3001\u75c7\u72b6\u306e\u7ba1\u7406\u3068\u9032\u884c\u306e\u9045\u5ef6\u3092\u76ee\u7684\u3068\u3057\u305f\u6cbb\u7642\u304c\u884c\u308f\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u30d3\u30bf\u30df\u30f3A\u88dc\u7d66\uff08\u6709\u52b9\u6027\u306f\u4e0d\u660e\uff09<\/li>\n\n\n\n<li>\u4eba\u5de5\u7db2\u819c\uff08Argus II\u306a\u3069\uff09<\/li>\n\n\n\n<li>\u907a\u4f1d\u5b50\u6cbb\u7642\uff08\u73fe\u5728\u7814\u7a76\u6bb5\u968e\uff09<\/li>\n\n\n\n<li>\u8996\u899a\u88dc\u52a9\u6a5f\u5668\uff08\u62e1\u5927\u93e1\u3001\u30b3\u30f3\u30c8\u30e9\u30b9\u30c8\u88dc\u6b63\u773c\u93e1\u306a\u3069\uff09<\/li>\n\n\n\n<li>\u79fb\u52d5\u8a13\u7df4\uff08\u8996\u899a\u969c\u5bb3\u8005\u5411\u3051\u306e\u6b69\u884c\u8a13\u7df4\uff09<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\">\u4e88\u5f8c | Prognosis<\/h2>\n\n\n\n<p>RP59\u306f\u9032\u884c\u6027\u304b\u3064\u4e0d\u53ef\u9006\u7684\u306a\u75be\u60a3\u3067\u3042\u308a\u3001\u60a3\u8005\u306b\u3088\u3063\u3066\u9032\u884c\u901f\u5ea6\u306f\u7570\u306a\u308a\u307e\u3059\u304c\u3001\u591a\u304f\u306e\u60a3\u8005\u306f\u4e2d\u5e74\u671f\u301c\u5f8c\u671f\u6210\u4eba\u671f\u306b\u304b\u3051\u3066\u8457\u3057\u3044\u8996\u529b\u4f4e\u4e0b\u3092\u7d4c\u9a13\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u907a\u4f1d\u5b50\u6cbb\u7642\u3084\u795e\u7d4c\u4fdd\u8b77\u6226\u7565\u3001\u85ac\u7406\u5b66\u7684\u6cbb\u7642\u306e\u7814\u7a76\u304c\u9032\u3081\u3089\u308c\u3066\u304a\u308a\u3001\u5c06\u6765\u7684\u306a\u6cbb\u7642\u6cd5\u306e\u958b\u767a\u304c\u671f\u5f85\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<div class=\"wp-block-group references\"><div class=\"wp-block-group__inner-container is-layout-flow wp-block-group-is-layout-flow\">\n<h2 class=\"wp-block-heading\">\u5f15\u7528\u6587\u732e\uff5cReferences<\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><a href=\"https:\/\/doi.org\/10.1016\/j.ajhg.2011.01.002\">Zelinger, L., Banin, E., Obolensky, A., Mizrahi-Meissonnier, L., Beryozkin, A., Bandah-Rozenfeld, D., Frenkel, S., Ben-Yosef, T., Merin, S., Schwartz, S. B., Cideciyan, A. V., Jacobson, S. G., &amp; Sharon, D. (2011). A missense mutation in DHDDS, encoding dehydrodolichyl diphosphate synthase, is associated with autosomal-recessive retinitis pigmentosa in Ashkenazi Jews. <em>American journal of human genetics<\/em>, <em>88<\/em>(2), 207\u2013215. https:\/\/doi.org\/10.1016\/j.ajhg.2011.01.002<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1016\/j.ajhg.2011.01.001\">Z\u00fcchner, S., Dallman, J., Wen, R., Beecham, G., Naj, A., Farooq, A., Kohli, M. A., Whitehead, P. L., Hulme, W., Konidari, I., Edwards, Y. J., Cai, G., Peter, I., Seo, D., Buxbaum, J. D., Haines, J. L., Blanton, S., Young, J., Alfonso, E., Vance, J. M., \u2026 Peri\u010dak-Vance, M. A. (2011). Whole-exome sequencing links a variant in DHDDS to retinitis pigmentosa. <em>American journal of human genetics<\/em>, <em>88<\/em>(2), 201\u2013206. https:\/\/doi.org\/10.1016\/j.ajhg.2011.01.001<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1093\/brain\/awab299\">Galosi, S., Edani, B. H., Martinelli, S., Hansikova, H., Eklund, E. A., Caputi, C., Masuelli, L., Corsten-Janssen, N., Srour, M., Oegema, R., Bosch, D. G. M., Ellis, C. A., Amlie-Wolf, L., Accogli, A., Atallah, I., Averdunk, L., Bara\u00f1ano, K. W., Bei, R., Bagnasco, I., \u2026 Leuzzi, V. (2022). <em>De novo dhdds<\/em> variants cause a neurodevelopmental and neurodegenerative disorder with myoclonus. <em>Brain<\/em>, <em>145<\/em>(1), 208\u2013223. https:\/\/doi.org\/10.1093\/brain\/awab299<\/a><\/li>\n<\/ul>\n<\/div><\/div>\n","protected":false},"featured_media":0,"menu_order":32,"template":"page_gd.php","class_list":["post-33628","genetic-diseases","type-genetic-diseases","status-publish","hentry"],"acf":[],"_links":{"self":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/33628","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases"}],"about":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/types\/genetic-diseases"}],"version-history":[{"count":10,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/33628\/revisions"}],"predecessor-version":[{"id":128059,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/33628\/revisions\/128059"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=33628"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}