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Identification of a novel mutation in the ABCA4 gene in a Chinese family with retinitis pigmentosa using exome sequencing
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 mut...
Autores principales: | , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Portland Press Ltd.
2018
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5857910/ https://www.ncbi.nlm.nih.gov/pubmed/29437900 http://dx.doi.org/10.1042/BSR20171300 |
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author | Huang, Xiangjun Yuan, Lamei Xu, Hongbo Zheng, Wen Cao, Yanna Yi, Junhui Guo, Yi Yang, Zhijian Li, Yu Deng, Hao |
author_facet | Huang, Xiangjun Yuan, Lamei Xu, Hongbo Zheng, Wen Cao, Yanna Yi, Junhui Guo, Yi Yang, Zhijian Li, Yu Deng, Hao |
author_sort | Huang, Xiangjun |
collection | PubMed |
description | 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 confirms 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 findings may contribute to improvement in clinical care, therapy, genetic screening, and counseling. |
format | Online Article Text |
id | pubmed-5857910 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2018 |
publisher | Portland Press Ltd. |
record_format | MEDLINE/PubMed |
spelling | pubmed-58579102018-03-29 Identification of a novel mutation in the ABCA4 gene in a Chinese family with retinitis pigmentosa using exome sequencing Huang, Xiangjun Yuan, Lamei Xu, Hongbo Zheng, Wen Cao, Yanna Yi, Junhui Guo, Yi Yang, Zhijian Li, Yu Deng, Hao Biosci Rep Research Articles 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 confirms 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 findings may contribute to improvement in clinical care, therapy, genetic screening, and counseling. Portland Press Ltd. 2018-03-16 /pmc/articles/PMC5857910/ /pubmed/29437900 http://dx.doi.org/10.1042/BSR20171300 Text en © 2018 The Author(s). http://creativecommons.org/licenses/by/4.0/This is an open access article published by Portland Press Limited on behalf of the Biochemical Society and distributed under the Creative Commons Attribution License 4.0 (CC BY) (http://creativecommons.org/licenses/by/4.0/) . |
spellingShingle | Research Articles Huang, Xiangjun Yuan, Lamei Xu, Hongbo Zheng, Wen Cao, Yanna Yi, Junhui Guo, Yi Yang, Zhijian Li, Yu Deng, Hao Identification of a novel mutation in the ABCA4 gene in a Chinese family with retinitis pigmentosa using exome sequencing |
title | Identification of a novel mutation in the ABCA4 gene in a Chinese family with retinitis pigmentosa using exome sequencing |
title_full | Identification of a novel mutation in the ABCA4 gene in a Chinese family with retinitis pigmentosa using exome sequencing |
title_fullStr | Identification of a novel mutation in the ABCA4 gene in a Chinese family with retinitis pigmentosa using exome sequencing |
title_full_unstemmed | Identification of a novel mutation in the ABCA4 gene in a Chinese family with retinitis pigmentosa using exome sequencing |
title_short | Identification of a novel mutation in the ABCA4 gene in a Chinese family with retinitis pigmentosa using exome sequencing |
title_sort | identification of a novel mutation in the abca4 gene in a chinese family with retinitis pigmentosa using exome sequencing |
topic | Research Articles |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5857910/ https://www.ncbi.nlm.nih.gov/pubmed/29437900 http://dx.doi.org/10.1042/BSR20171300 |
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