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Exome Sequencing Identified a Recessive RDH12 Mutation in a Family with Severe Early-Onset Retinitis Pigmentosa
Retinitis pigmentosa (RP) is the most important hereditary retinal disease caused by progressive degeneration of the photoreceptor cells. This study is to identify gene mutations responsible for autosomal recessive retinitis pigmentosa (arRP) in a Chinese family using next-generation sequencing tech...
Autores principales: | , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Hindawi Publishing Corporation
2015
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4466393/ https://www.ncbi.nlm.nih.gov/pubmed/26124963 http://dx.doi.org/10.1155/2015/942740 |
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author | Gong, Bo Wei, Bo Huang, Lulin Hao, Jilong Li, Xiulan Yang, Yin Zhou, Yu Hao, Fang Cui, Zhihua Zhang, Dingding Wang, Le Zhang, Houbin |
author_facet | Gong, Bo Wei, Bo Huang, Lulin Hao, Jilong Li, Xiulan Yang, Yin Zhou, Yu Hao, Fang Cui, Zhihua Zhang, Dingding Wang, Le Zhang, Houbin |
author_sort | Gong, Bo |
collection | PubMed |
description | Retinitis pigmentosa (RP) is the most important hereditary retinal disease caused by progressive degeneration of the photoreceptor cells. This study is to identify gene mutations responsible for autosomal recessive retinitis pigmentosa (arRP) in a Chinese family using next-generation sequencing technology. A Chinese family with 7 members including two individuals affected with severe early-onset RP was studied. All patients underwent a complete ophthalmic examination. Exome sequencing was performed on a single RP patient (the proband of this family) and direct Sanger sequencing on other family members and normal controls was followed to confirm the causal mutations. A homozygous mutation c.437T<A (p.V146D) in the retinol dehydrogenase 12 (RDH12) gene, which encodes an NADPH-dependent retinal reductase, was identified as being related to the phenotype of this arRP family. This homozygous mutation was detected in the two affected patients, but not present in other family members and 600 normal controls. Another three normal members in the family were found to carry this heterozygous missense mutation. Our results emphasize the importance of c.437T<A (p.V146D) substitution in RDH12 and provide further support for the causative role of this mutation in the pathogenesis and clinical diagnosis of RP. |
format | Online Article Text |
id | pubmed-4466393 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2015 |
publisher | Hindawi Publishing Corporation |
record_format | MEDLINE/PubMed |
spelling | pubmed-44663932015-06-29 Exome Sequencing Identified a Recessive RDH12 Mutation in a Family with Severe Early-Onset Retinitis Pigmentosa Gong, Bo Wei, Bo Huang, Lulin Hao, Jilong Li, Xiulan Yang, Yin Zhou, Yu Hao, Fang Cui, Zhihua Zhang, Dingding Wang, Le Zhang, Houbin J Ophthalmol Research Article Retinitis pigmentosa (RP) is the most important hereditary retinal disease caused by progressive degeneration of the photoreceptor cells. This study is to identify gene mutations responsible for autosomal recessive retinitis pigmentosa (arRP) in a Chinese family using next-generation sequencing technology. A Chinese family with 7 members including two individuals affected with severe early-onset RP was studied. All patients underwent a complete ophthalmic examination. Exome sequencing was performed on a single RP patient (the proband of this family) and direct Sanger sequencing on other family members and normal controls was followed to confirm the causal mutations. A homozygous mutation c.437T<A (p.V146D) in the retinol dehydrogenase 12 (RDH12) gene, which encodes an NADPH-dependent retinal reductase, was identified as being related to the phenotype of this arRP family. This homozygous mutation was detected in the two affected patients, but not present in other family members and 600 normal controls. Another three normal members in the family were found to carry this heterozygous missense mutation. Our results emphasize the importance of c.437T<A (p.V146D) substitution in RDH12 and provide further support for the causative role of this mutation in the pathogenesis and clinical diagnosis of RP. Hindawi Publishing Corporation 2015 2015-06-01 /pmc/articles/PMC4466393/ /pubmed/26124963 http://dx.doi.org/10.1155/2015/942740 Text en Copyright © 2015 Bo Gong et al. https://creativecommons.org/licenses/by/3.0/ This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Research Article Gong, Bo Wei, Bo Huang, Lulin Hao, Jilong Li, Xiulan Yang, Yin Zhou, Yu Hao, Fang Cui, Zhihua Zhang, Dingding Wang, Le Zhang, Houbin Exome Sequencing Identified a Recessive RDH12 Mutation in a Family with Severe Early-Onset Retinitis Pigmentosa |
title | Exome Sequencing Identified a Recessive RDH12 Mutation in a Family with Severe Early-Onset Retinitis Pigmentosa |
title_full | Exome Sequencing Identified a Recessive RDH12 Mutation in a Family with Severe Early-Onset Retinitis Pigmentosa |
title_fullStr | Exome Sequencing Identified a Recessive RDH12 Mutation in a Family with Severe Early-Onset Retinitis Pigmentosa |
title_full_unstemmed | Exome Sequencing Identified a Recessive RDH12 Mutation in a Family with Severe Early-Onset Retinitis Pigmentosa |
title_short | Exome Sequencing Identified a Recessive RDH12 Mutation in a Family with Severe Early-Onset Retinitis Pigmentosa |
title_sort | exome sequencing identified a recessive rdh12 mutation in a family with severe early-onset retinitis pigmentosa |
topic | Research Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4466393/ https://www.ncbi.nlm.nih.gov/pubmed/26124963 http://dx.doi.org/10.1155/2015/942740 |
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