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Exome Sequencing Identified a Recessive RDH12 Mutation in a Family with Severe Early-Onset Retinitis Pigmentosa
Joint Authors
Zhang, Houbin
Gong, Bo
Wei, Bo
Huang, Lulin
Hao, Jilong
Li, Xiulan
Yang, Yin
Zhou, Yu
Hao, Fang
Cui, Zhihua
Zhang, Dingding
Wang, Le
Source
Issue
Vol. 2015, Issue 2015 (31 Dec. 2015), pp.1-7, 7 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2015-06-01
Country of Publication
Egypt
No. of Pages
7
Main Subjects
Abstract EN
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 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.
American Psychological Association (APA)
Gong, Bo& Wei, Bo& Huang, Lulin& Hao, Jilong& Li, Xiulan& Yang, Yin…[et al.]. 2015. Exome Sequencing Identified a Recessive RDH12 Mutation in a Family with Severe Early-Onset Retinitis Pigmentosa. Journal of Ophthalmology،Vol. 2015, no. 2015, pp.1-7.
https://search.emarefa.net/detail/BIM-1069895
Modern Language Association (MLA)
Gong, Bo…[et al.]. Exome Sequencing Identified a Recessive RDH12 Mutation in a Family with Severe Early-Onset Retinitis Pigmentosa. Journal of Ophthalmology No. 2015 (2015), pp.1-7.
https://search.emarefa.net/detail/BIM-1069895
American Medical Association (AMA)
Gong, Bo& Wei, Bo& Huang, Lulin& Hao, Jilong& Li, Xiulan& Yang, Yin…[et al.]. Exome Sequencing Identified a Recessive RDH12 Mutation in a Family with Severe Early-Onset Retinitis Pigmentosa. Journal of Ophthalmology. 2015. Vol. 2015, no. 2015, pp.1-7.
https://search.emarefa.net/detail/BIM-1069895
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1069895