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- Title
Identification of a novel mutation in the ABCA4 gene in a Chinese family with retinitis pigmentosa using exome sequencing.
- Authors
Xiangjun Huang; Lamei Yuan; Hongbo Xu; Wen Zheng; Yanna Cao; Junhui Yi; Yi Guo; Zhijian Yang; Yu Li; Hao Deng
- 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 4 gene (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 con- firms a genotype--phenotype relationship. The present study may also disclose some new clues for RP genetic causes and pathogenesis, as well as clinical and genetic diagnosis. The research findingsmay contribute to improvement in clinical care, therapy, genetic screening, and counseling.
- Subjects
RETINITIS pigmentosa; DEGENERATION (Pathology); AUTOSOMAL recessive polycystic kidney; GENETIC disorders; PHOTORECEPTORS
- Publication
Bioscience Reports, 2018, Vol 38, Issue 2, p1
- ISSN
0144-8463
- Publication type
Article
- DOI
10.1042/BSR20171300