2E-03Back
RDH11の新規ナンセンス変異を持つ神経および筋肉症状を併発する家族性網膜色素変性症
*比留木成美[1], 三浦史郎[2], 藤下幸穂[2], 柴田弘紀[1]
[1]九州大・生医研・ゲノミクス, [2]愛媛大・医・脳神経内・老年医

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Retinitis pigmentosa (RP) is a progressing retinal degenerative disease. We ascertained a Japanese pedigree with three RP siblings complicated with neuromuscular symptoms born to consanguineous parents. By exome sequencing, we identified a novel homozygous nonsense variant in the RDH11 gene. The variant is located within a large uninterrupted homozygous tract due to the consanguineous marriage. We conclude that the RDH11 variant is responsible for the RP complicated with neuromuscular symptoms in the pedigree.
keywords: 網膜色素変性症；近親婚；筋委縮

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Familial retinitis pigmentosa with neuromuscular symptoms carrying a novel nonsense variant in RDH11
*Shigeyoshi Hiruki [1], Shiroh Miura[2], Saho Fujishita[2], Hiroki Shibata [1]
[1] Div. Genomics, Med. Inst. Bioreg., Kyushu Univ. [2] Dept. Neurol. Geriatr. Med., Ehime Univ., Grad. Sch. Med.