Identification of a Novel Mutation in the ABCA4 Gene in a Chinese Family with Retinitis Pigmentosa Using Exome Sequencing.

Abstract:

:Retinitis pigmentosa (RP) is a group of hereditary, degenerative retinal disorders characterized by progressive retinal dysfunction, outer retina cell loss, and retinal tissue atrophy. It eventually leads to tunnel vision and legal, or total blindness. Here we aimed to reveal the causal gene and mutation contributing to the development of autosomal recessive RP (arRP) in a consanguineous family. A novel homozygous mutation, c.4845delT (p.K1616Rfs*46), in the ATP-binding cassette subfamily A member 4gene ( ABCA4 ) was identified. It may reduce ABCA4 protein activity, leading to progressive degeneration of both rod and cone photoreceptors. The study extends the arRP genotypic spectrum and confirms a genotype-phenotype relationship. This study may also disclose some new clues for RP genetic causes and pathogenesis, as well as clinical and genetic diagnosis. The research findings may contribute to improvement in clinical care, therapy, genetic screening, and counseling.

journal_name

Biosci Rep

journal_title

Bioscience reports

authors

Huang X,Yuan L,Xu H,Zheng W,Cao Y,Yi J,Guo Y,Yang Z,Li Y,Deng H

doi

10.1042/BSR20171300

subject

Has Abstract

pub_date

2018-04-27 00:00:00

issue

2

eissn

0144-8463

issn

1573-4935

pii

BSR20171300

journal_volume

38

pub_type

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