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

Scientific Reports
Xiangyu MaYafei Li

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...Continue Reading

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Nov 3, 2016·Ophthalmic Genetics·Dror SharonCarlo Rivolta
Dec 19, 2017·Frontiers in Physiology·Nikolina JovancevicHanns Hatt
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Methods Mentioned

BETA
chip
PCR
exome sequencing

Software Mentioned

SOAPaligner
TMPred
Genome Analysis Toolkit ( GATK )
MODEL
BWA
Illumina base calling
Mutation Taster
SWISS
UCSC Genome Browser
SOAPsnp

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