title: Exome Sequencing Identified a Recessive RDH12 Mutation in a Family with Severe Early-Onset Retinitis Pigmentosa.
abstract: 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.
authors.affiliation: Sichuan 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, China ; School of Medicine, University of Electronic Science and Technology of China, Chengdu, Sichuan 610072, China.
authors.forename: Bo
authors.initials: B
authors.lastname: Gong
authors.affiliation: China-Japan Union Hospital of Jilin University, Neurosurgery, Changchun, Jilin 130103, China.
authors.forename: Bo
authors.initials: B
authors.lastname: Wei
authors.affiliation: Sichuan 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, China ; School of Medicine, University of Electronic Science and Technology of China, Chengdu, Sichuan 610072, China.
authors.forename: Lulin
authors.initials: L
authors.lastname: Huang
authors.affiliation: Department of Ophthalmology, The First Hospital of Jilin University, Changchun, Jilin 130103, China.
authors.forename: Jilong
authors.initials: J
authors.lastname: Hao
authors.affiliation: Sichuan 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, China ; School of Medicine, University of Electronic Science and Technology of China, Chengdu, Sichuan 610072, China.
authors.forename: Xiulan
authors.initials: X
authors.lastname: Li
authors.affiliation: Sichuan 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, China ; School of Medicine, University of Electronic Science and Technology of China, Chengdu, Sichuan 610072, China.
authors.forename: Yin
authors.initials: Y
authors.lastname: Yang
authors.affiliation: Sichuan 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, China ; School of Medicine, University of Electronic Science and Technology of China, Chengdu, Sichuan 610072, China.
authors.forename: Yu
authors.initials: Y
authors.lastname: Zhou
authors.affiliation: Sichuan 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, China ; School of Medicine, University of Electronic Science and Technology of China, Chengdu, Sichuan 610072, China.
authors.forename: Fang
authors.initials: F
authors.lastname: Hao
authors.affiliation: Department of Ophthalmology, The First Hospital of Jilin University, Changchun, Jilin 130103, China.
authors.forename: Zhihua
authors.initials: Z
authors.lastname: Cui
authors.affiliation: Sichuan 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, China ; School of Medicine, University of Electronic Science and Technology of China, Chengdu, Sichuan 610072, China.
authors.forename: Dingding
authors.initials: D
authors.lastname: Zhang
authors.affiliation: Department of Ophthalmology, The First Hospital of Jilin University, Changchun, Jilin 130103, China.
authors.forename: Le
authors.initials: L
authors.lastname: Wang
authors.affiliation: Sichuan 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, China ; School of Medicine, University of Electronic Science and Technology of China, Chengdu, Sichuan 610072, China.
authors.forename: Houbin
authors.identifier: 0000-0001-6815-1452
authors.initials: H
authors.lastname: Zhang