Whole-exome sequencing identifies OR2W3 mutation as a cause of autosomal dominant retinitis pigmentosa

Ma, Xiangyu, Guan, Liping, Wu, Wei, Zhang, Yao, Zheng, Wei, Gao, Yu-Tang, Long, Jirong, Wu, Na, Wu, Long, Xiang, Ying, Xu, Bin, Shen, Miaozhong, Chen, Yanhua, Wang, Yuewen, Yin, Ye, Li, Yingrui, Xu, Haiwei, Xu, Xun and Li, Yafei (2015) Whole-exome sequencing identifies OR2W3 mutation as a cause of autosomal dominant retinitis pigmentosa. Scientific Reports, 5 1-6. doi:10.1038/srep09236


Author Ma, Xiangyu
Guan, Liping
Wu, Wei
Zhang, Yao
Zheng, Wei
Gao, Yu-Tang
Long, Jirong
Wu, Na
Wu, Long
Xiang, Ying
Xu, Bin
Shen, Miaozhong
Chen, Yanhua
Wang, Yuewen
Yin, Ye
Li, Yingrui
Xu, Haiwei
Xu, Xun
Li, Yafei
Title Whole-exome sequencing identifies OR2W3 mutation as a cause of autosomal dominant retinitis pigmentosa
Journal name Scientific Reports   Check publisher's open access policy
ISSN 2045-2322
Publication date 2015-03-18
Sub-type Article (original research)
DOI 10.1038/srep09236
Open Access Status DOI
Volume 5
Start page 1
End page 6
Total pages 6
Place of publication London, United Kingdom
Publisher Nature Publishing Group
Collection year 2016
Language eng
Formatted abstract
Retinitis pigmentosa (RP), a heterogeneous group of inherited ocular diseases, is a genetic condition that causes retinal degeneration and eventual vision loss. Though some genes have been identified to be associated with RP, still a large part of the clinical cases could not be explained. Here we reported a four-generation Chinese family with RP, during which 6 from 9 members of the second generation affected the disease. To identify the genetic defect in this family, whole-exome sequencing together with validation analysis by Sanger sequencing were performed to find possible pathogenic mutations. After a pipeline of database filtering, including public databases and in-house databases, a novel missense mutation, c. 424 C > T transition (p.R142W) in OR2W3 gene, was identified as a potentially causative mutation for autosomal dominant RP. The mutation co-segregated with the disease phenotype over four generations. This mutation was validated in another independent three-generation family. RT-PCR analysis also identified that OR2W3 gene was expressed in HESC-RPE cell line. The results will not only enhance our current understanding of the genetic basis of RP, but also provide helpful clues for designing future studies to further investigate genetic factors for familial RP.
Q-Index Code C1
Q-Index Status Provisional Code
Institutional Status Unknown

Document type: Journal Article
Sub-type: Article (original research)
Collection: Institute for Molecular Bioscience - Publications
 
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