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...
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| Format: | Article |
| Language: | English |
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Wiley
2015-01-01
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| Series: | Journal of Ophthalmology |
| Online Access: | http://dx.doi.org/10.1155/2015/942740 |
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| author | Bo Gong Bo Wei Lulin Huang Jilong Hao Xiulan Li Yin Yang Yu Zhou Fang Hao Zhihua Cui Dingding Zhang Le Wang Houbin Zhang |
| author_facet | Bo Gong Bo Wei Lulin Huang Jilong Hao Xiulan Li Yin Yang Yu Zhou Fang Hao Zhihua Cui Dingding Zhang Le Wang Houbin Zhang |
| author_sort | Bo Gong |
| collection | DOAJ |
| 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 | Article |
| id | doaj-art-1d5710d41b3641bba281781fa3c9b4d0 |
| institution | Kabale University |
| issn | 2090-004X 2090-0058 |
| language | English |
| publishDate | 2015-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Journal of Ophthalmology |
| spelling | doaj-art-1d5710d41b3641bba281781fa3c9b4d02025-02-03T01:00:09ZengWileyJournal of Ophthalmology2090-004X2090-00582015-01-01201510.1155/2015/942740942740Exome Sequencing Identified a Recessive RDH12 Mutation in a Family with Severe Early-Onset Retinitis PigmentosaBo Gong0Bo Wei1Lulin Huang2Jilong Hao3Xiulan Li4Yin Yang5Yu Zhou6Fang Hao7Zhihua Cui8Dingding Zhang9Le Wang10Houbin Zhang11Sichuan Provincial Key Laboratory for Disease Gene Study, Hospital of University of Electronic Science and Technology of China and Sichuan Provincial People’s Hospital, Chengdu, Sichuan 610072, ChinaChina-Japan Union Hospital of Jilin University, Neurosurgery, Changchun, Jilin 130103, ChinaSichuan Provincial Key Laboratory for Disease Gene Study, Hospital of University of Electronic Science and Technology of China and Sichuan Provincial People’s Hospital, Chengdu, Sichuan 610072, ChinaDepartment of Ophthalmology, The First Hospital of Jilin University, Changchun, Jilin 130103, ChinaSichuan Provincial Key Laboratory for Disease Gene Study, Hospital of University of Electronic Science and Technology of China and Sichuan Provincial People’s Hospital, Chengdu, Sichuan 610072, ChinaSichuan Provincial Key Laboratory for Disease Gene Study, Hospital of University of Electronic Science and Technology of China and Sichuan Provincial People’s Hospital, Chengdu, Sichuan 610072, ChinaSichuan Provincial Key Laboratory for Disease Gene Study, Hospital of University of Electronic Science and Technology of China and Sichuan Provincial People’s Hospital, Chengdu, Sichuan 610072, ChinaSichuan Provincial Key Laboratory for Disease Gene Study, Hospital of University of Electronic Science and Technology of China and Sichuan Provincial People’s Hospital, Chengdu, Sichuan 610072, ChinaDepartment of Ophthalmology, The First Hospital of Jilin University, Changchun, Jilin 130103, ChinaSichuan Provincial Key Laboratory for Disease Gene Study, Hospital of University of Electronic Science and Technology of China and Sichuan Provincial People’s Hospital, Chengdu, Sichuan 610072, ChinaDepartment of Ophthalmology, The First Hospital of Jilin University, Changchun, Jilin 130103, ChinaSichuan Provincial Key Laboratory for Disease Gene Study, Hospital of University of Electronic Science and Technology of China and Sichuan Provincial People’s Hospital, Chengdu, Sichuan 610072, ChinaRetinitis 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.http://dx.doi.org/10.1155/2015/942740 |
| spellingShingle | Bo Gong Bo Wei Lulin Huang Jilong Hao Xiulan Li Yin Yang Yu Zhou Fang Hao Zhihua Cui Dingding Zhang Le Wang Houbin Zhang Exome Sequencing Identified a Recessive RDH12 Mutation in a Family with Severe Early-Onset Retinitis Pigmentosa Journal of Ophthalmology |
| 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 |
| url | http://dx.doi.org/10.1155/2015/942740 |
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