A Missense Mutation inHK1Leads to Autosomal Dominant Retinitis Pigmentosa | Zendy

Feng Wang | Zendy; YanDong Wang | Zendy; Bin Zhang | Zendy; Li Zhao | Zendy; Vera Lyubasyuk | Zendy; Keqing Wang | Zendy; Mingchu Xu | Zendy; Yumei Li | Zendy; Frances Wu | Zendy; Cindy Wen | Zendy; Paul S. Bernstein | Zendy; Danni Lin | Zendy; Susanna Zhu | Zendy; Hui Wang | Zendy; Kang Zhang | Zendy; Rui Chen | Zendy

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A Missense Mutation inHK1Leads to Autosomal Dominant Retinitis Pigmentosa

Author(s) -

Feng Wang,

YanDong Wang,

Bin Zhang,

Li Zhao,

Vera Lyubasyuk,

Keqing Wang,

Mingchu Xu,

Yumei Li,

Frances Wu,

Cindy Wen,

Paul S. Bernstein,

Danni Lin,

Susanna Zhu,

Hui Wang,

Kang Zhang,

Rui Chen

Publication year - 2014

Publication title -

investigative ophthalmology and visual science

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 1.935

H-Index - 218

eISSN - 1552-5783

pISSN - 0146-0404

DOI - 10.1167/iovs.14-15520

Subject(s) - genetics , retinitis pigmentosa , missense mutation , biology , exome sequencing , mutation , genetic linkage , exome , genetic heterogeneity , gene , phenotype

Retinitis pigmentosa (RP) is a genetically heterogeneous disease with over 60 causative genes known to date. Nevertheless, approximately 40% of RP cases remain genetically unsolved, suggesting that many novel disease-causing genes are yet to be identified. In this study, we aimed to identify the causative mutation for a large autosomal dominant RP (adRP) family with negative results from known retinal disease gene screening.

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