Truncating Variants Contribute to Hearing Loss and Severe Retinopathy in USH2A-Associated Retinitis Pigmentosa in Japanese Patients

DOI Web Site 被引用文献1件 参考文献44件
  • Akira Inaba
    Department of Ophthalmology, Kobe City Eye Hospital, Kobe, Hyogo 650-0047, Japan
  • Akiko Maeda
    Department of Ophthalmology, Kobe City Eye Hospital, Kobe, Hyogo 650-0047, Japan
  • Akiko Yoshida
    Department of Ophthalmology, Kobe City Eye Hospital, Kobe, Hyogo 650-0047, Japan
  • Kanako Kawai
    Department of Ophthalmology, Kobe City Eye Hospital, Kobe, Hyogo 650-0047, Japan
  • Yasuhiko Hirami
    Department of Ophthalmology, Kobe City Eye Hospital, Kobe, Hyogo 650-0047, Japan
  • Yasuo Kurimoto
    Department of Ophthalmology, Kobe City Eye Hospital, Kobe, Hyogo 650-0047, Japan
  • Shinji Kosugi
    Department of Medical Ethics, Graduate School of Medicine, Kyoto University, Kyoto 606-8501, Japan
  • Masayo Takahashi
    Department of Ophthalmology, Kobe City Eye Hospital, Kobe, Hyogo 650-0047, Japan

書誌事項

公開日
2020-10-22
資源種別
journal article
権利情報
  • https://creativecommons.org/licenses/by/4.0/
DOI
  • 10.3390/ijms21217817
公開者
MDPI AG

説明

<jats:p>USH2A is a common causal gene of retinitis pigmentosa (RP), a progressive blinding disease due to retinal degeneration. Genetic alterations in USH2A can lead to two types of RP, non-syndromic and syndromic RP, which is called Usher syndrome, with impairments of vision and hearing. The complexity of the genotype–phenotype correlation in USH2A-associated RP (USH2A-RP) has been reported. Genetic and clinical characterization of USH2A-RP has not been performed in Japanese patients. In this study, genetic analyses were performed using targeted panel sequencing in 525 Japanese RP patients. Pathogenic variants of USH2A were identified in 36 of 525 (6.9%) patients and genetic features of USH2A-RP were characterized. Among 36 patients with USH2A-RP, 11 patients had syndromic RP with congenital hearing problems. Amino acid changes due to USH2A alterations were similarly located throughout entire regions of the USH2A protein structure in non-syndromic and syndromic RP cases. Notably, truncating variants were detected in all syndromic patients with a more severe retinal phenotype as compared to non-syndromic RP cases. Taken together, truncating variants could contribute to more serious functional and tissue damages in Japanese patients, suggesting important roles for truncating mutations in the pathogenesis of syndromic USH2A-RP.</jats:p>

収録刊行物

被引用文献 (1)*注記

もっと見る

参考文献 (44)*注記

もっと見る

関連プロジェクト

もっと見る

キーワード

詳細情報 詳細情報について

問題の指摘

ページトップへ