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Huang X, Yuan L, Xu H, et al. Identification of a Novel Mutation in the ABCA4 Gene in a Chinese Family with Retinitis Pigmentosa Using Exome Sequencing. Biosci Rep. 2018;38(2)doi: 10.1042/BSR20171300.
Huang, X., Yuan, L., Xu, H., Zheng, W., Cao, Y., Yi, J., Guo, Y., Yang, Z., Li, Y., & Deng, H. (2018). Identification of a Novel Mutation in the ABCA4 Gene in a Chinese Family with Retinitis Pigmentosa Using Exome Sequencing. Bioscience reports, 38(2), . https://doi.org/10.1042/BSR20171300
Huang, Xiangjun, et al. "Identification of a Novel Mutation in the ABCA4 Gene in a Chinese Family with Retinitis Pigmentosa Using Exome Sequencing." Bioscience reports vol. 38,2 (2018). doi: https://doi.org/10.1042/BSR20171300
Huang X, Yuan L, Xu H, Zheng W, Cao Y, Yi J, Guo Y, Yang Z, Li Y, Deng H. 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). doi: 10.1042/BSR20171300. PMID: 29437900; PMCID: PMC5857910.
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Biosci Rep. 2018 Apr 27;38(2). doi: 10.1042/BSR20171300.

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

Bioscience reports

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

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 [email protected].

PMID: 29437900 PMCID: PMC5857910 DOI: 10.1042/BSR20171300

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 (

©2018 The Author(s).

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

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