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

Xiangjun Huang; Lamei Yuan; Hongbo Xu; Wen Zheng; Yanna Cao; Junhui Yi; Yi Guo; Zhijian Yang; Yu Li; Hao Deng

doi:10.1042/BSR20171300

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

Biosci Rep. 2018 Apr 27;38(2):BSR20171300. doi: 10.1042/BSR20171300.

Authors

Xiangjun Huang¹, Lamei Yuan², Hongbo Xu², Wen Zheng³, Yanna Cao⁴, Junhui Yi⁴, Yi Guo², Zhijian Yang², Yu Li², Hao Deng⁵

Affiliations

¹ Department of General Surgery, The First Affiliated Hospital, Hunan University of Chinese Medicine, Changsha, China.
² Center for Experimental Medicine, The Third Xiangya Hospital, Central South University, Changsha, Wyoming, China.
³ Department of Neurology, The Third Xiangya Hospital, Central South University, Changsha, Wyoming, China.
⁴ Department of Ophthalmology, The Third Xiangya Hospital, Central South University, Changsha, Wyoming, China.
⁵ The Third Xiangya Hospital, Central South University, Changsha, 410013, China hdeng008@yahoo.com.

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.

Keywords: ABCA4; exome sequencing; inherited retinal degeneration; mutation; retinitis pigmentosa.