{"id":122058,"date":"2026-01-08T16:20:48","date_gmt":"2026-01-08T07:20:48","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?post_type=genetic-diseases&p=122058"},"modified":"2026-03-03T13:50:28","modified_gmt":"2026-03-03T04:50:28","slug":"retinitis-pigmentosa-x-linked-rpgr","status":"publish","type":"genetic-diseases","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/retinitis-pigmentosa-x-linked-rpgr\/","title":{"rendered":"X\u9023\u9396\u6027\u7db2\u819c\u8272\u7d20\u5909\u6027\u75c7\uff08RPGR\u95a2\u9023\uff09"},"content":{"rendered":"\n

\u6982\u8981<\/strong><\/h2>\n\n\n\n

X\u9023\u9396\u6027\u7db2\u819c\u8272\u7d20\u5909\u6027\u75c7\uff08X-linked Retinitis Pigmentosa\uff1aXLRP\uff09\u306f\u3001\u7db2\u819c\u306e\u687f\u4f53\u304a\u3088\u3073\u9310\u4f53\u8996\u7d30\u80de\u304c\u9032\u884c\u6027\u306b\u5909\u6027\u3059\u308b\u907a\u4f1d\u6027\u7db2\u819c\u75be\u60a3\u306e\u4e00\u578b\u3067\u3042\u308a\u3001\u8996\u91ce\u72ed\u7a84\u3068\u591c\u76f2\u3092\u4e3b\u75c7\u72b6\u3068\u3057\u307e\u3059\u3002RPGR\u95a2\u9023\u578b\u306fXLRP\u306e\u4e2d\u3067\u6700\u3082\u983b\u5ea6\u304c\u9ad8\u304f\u3001\u91cd\u75c7\u5ea6\u3082\u9ad8\u3044\u578b\u3067\u3059\u3002<\/p>\n\n\n\n

RPGR\u86cb\u767d\u306f\u8996\u7d30\u80de\u306e\u7e4a\u6bdb\u79fb\u884c\u5e2f\u306b\u5c40\u5728\u3057\u3001\u8996\u7d30\u80de\u5916\u7bc0\u3078\u306e\u86cb\u767d\u8f38\u9001\u3092\u5236\u5fa1\u3057\u3066\u3044\u307e\u3059\u3002\u3053\u306e\u6a5f\u80fd\u304c\u7834\u7dbb\u3059\u308b\u3068\u8996\u7d30\u80de\u306e\u69cb\u9020\u7dad\u6301\u304c\u3067\u304d\u305a\u3001\u5f90\u3005\u306b\u8996\u7d30\u80de\u304c\u8131\u843d\u3057\u3066\u3044\u304d\u307e\u3059\u3002\u591a\u304f\u306f\u5c0f\u5150\u671f\u304b\u3089\u591c\u76f2\u3067\u767a\u75c7\u3057\u3001\u601d\u6625\u671f\u301c\u6210\u4eba\u671f\u306b\u8996\u91ce\u304c\u8457\u660e\u306b\u72ed\u7a84\u3057\u3001\u6700\u7d42\u7684\u306b\u5931\u660e\u306b\u81f3\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002(\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af)<\/p>\n\n\n\n

\u75ab\u5b66<\/strong><\/h2>\n\n\n\n

\u7db2\u819c\u8272\u7d20\u5909\u6027\u75c7\u5168\u4f53\u306e\u6709\u75c5\u7387\u306f\u7d044000\u4eba\u306b1\u4eba\u3068\u3055\u308c\u3001\u305d\u306e\u3046\u3061X\u9023\u9396\u578b\u306f\u7d0410\u301c15%\u3092\u5360\u3081\u307e\u3059\u3002\u7537\u6027\u306b\u591a\u304f\u767a\u75c7\u3057\u3001\u5973\u6027\u306f\u8efd\u75c7\u307e\u305f\u306f\u7121\u75c7\u72b6\u306e\u4fdd\u56e0\u8005\u3068\u306a\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002(PMC)<\/p>\n\n\n\n

\u539f\u56e0<\/strong><\/h2>\n\n\n\n

\u672c\u75be\u60a3\u306fRPGR\u907a\u4f1d\u5b50\u306e\u75c5\u7684\u5909\u7570\u306b\u3088\u3063\u3066\u767a\u75c7\u3057\u307e\u3059\u3002RPGR\u907a\u4f1d\u5b50\u306f\u30d2\u30c8X\u67d3\u8272\u4f53\uff08Xp21.1\uff09\u306b\u4f4d\u7f6e\u3057\u3001\u8996\u7d30\u80de\u7e4a\u6bdb\u8f38\u9001\u86cb\u767d\u3092\u30b3\u30fc\u30c9\u3057\u307e\u3059\u3002ORF15\u9818\u57df\u306b\u5909\u7570\u304c\u96c6\u4e2d\u3057\u3066\u3044\u308b\u3053\u3068\u304c\u7279\u5fb4\u3067\u3059\u3002(\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af)<\/p>\n\n\n\n

\u907a\u4f1d\u5f62\u5f0f\u306fX\u9023\u9396\u6f5c\u6027\u907a\u4f1d\u3067\u3059\u3002(malacards.org)<\/p>\n\n\n\n

\u75c7\u72b6<\/strong><\/h2>\n\n\n\n

\u521d\u671f<\/strong><\/h3>\n\n\n\n
    \n
  • \u591c\u76f2<\/li>\n\n\n\n
  • \u6697\u9806\u5fdc\u9045\u5ef6<\/li>\n<\/ul>\n\n\n\n

    \u9032\u884c\u671f<\/strong><\/h3>\n\n\n\n
      \n
    • \u8996\u91ce\u72ed\u7a84\uff08\u30c8\u30f3\u30cd\u30eb\u8996\uff09<\/li>\n\n\n\n
    • \u8996\u529b\u4f4e\u4e0b<\/li>\n\n\n\n
    • \u7f9e\u660e<\/li>\n<\/ul>\n\n\n\n

      \u8a3a\u65ad<\/strong><\/h2>\n\n\n\n
        \n
      1. \u81e8\u5e8a\u75c7\u72b6\uff08\u591c\u76f2\uff0b\u8996\u91ce\u72ed\u7a84\uff09<\/li>\n\n\n\n
      2. \u773c\u5e95\u3067\u9aa8\u5c0f\u4f53\u69d8\u8272\u7d20\u6c88\u7740<\/li>\n\n\n\n
      3. ERG\u3067\u53cd\u5fdc\u4f4e\u4e0b<\/li>\n\n\n\n
      4. \u907a\u4f1d\u5b50\u8a3a\u65ad\uff08RPGR\u89e3\u6790\uff09(PMC)<\/li>\n<\/ol>\n\n\n\n

        \u6cbb\u7642<\/strong><\/h2>\n\n\n\n
          \n
        • \u4f4e\u8996\u529b\u652f\u63f4<\/li>\n\n\n\n
        • \u8996\u899a\u88dc\u52a9\u5177<\/li>\n\n\n\n
        • \u907a\u4f1d\u5b50\u6cbb\u7642\uff08\u81e8\u5e8a\u8a66\u9a13\u6bb5\u968e\uff09<\/li>\n\n\n\n
        • \u5b9a\u671f\u30d5\u30a9\u30ed\u30fc<\/li>\n<\/ul>\n\n\n\n

          \u53c2\u8003\u6587\u732e<\/strong><\/h2>\n\n\n\n

          X\u9023\u9396\u6027\u7db2\u819c\u8272\u7d20\u5909\u6027\u75c7 \u2014 \u907a\u4f1d\u5b50\u75be\u60a3\u89e3\u8aac\u30da\u30fc\u30b8\uff08\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af\uff09\u3088\u308a\u3002(\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af)
          Vervoort R et al. Mutations in the RPGR gene cause X-linked retinitis pigmentosa. Nat Genet. 2000.(Nature)
          Retinitis Pigmentosa \u2014 GeneReviews, PubMed Central.(PMC)
          X-linked Retinitis Pigmentosa \u2014 Malacards Rare Disease Database.(malacards.org)<\/p>\n\n\n\n

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