首页 / 院系成果 / 成果详情页

Exome Sequencing Identified a Recessive RDH12 Mutation in a Family with Severe Early-Onset Retinitis Pigmentosa 期刊论文

编号：

75d3b04c-a034-4b54-9d37-f3293e753ad0
作者：

Gong, Bo(龚波)#^[1,2,3]Wei, Bo(韦博)#^[4]Huang, Lulin^[1,2,3];Hao, Jilong(郝继龙)^[5]Li, Xiulan^[1,2,3];Yang, Yin^[1,2,3];Zhou, Yu^[1,2,3];Hao, Fang^[1,2,3];Cui, Zhihua(崔治华)^[5]Zhang, Dingding^[1,2,3];Wang, Le(王乐)*^[5]Zhang, Houbin(张侯斌)*^[1,2,3]
语种：

英文
期刊：

JOURNAL OF OPHTHALMOLOGY ISSN：2090-004X 2015 年 2015 卷
收录：
摘要：

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.
推荐引用方式
GB/T 7714：

Gong Bo,Wei Bo,Huang Lulin, et al. Exome Sequencing Identified a Recessive RDH12 Mutation in a Family with Severe Early-Onset Retinitis Pigmentosa [J].JOURNAL OF OPHTHALMOLOGY,2015,2015.
APA：

Gong Bo,Wei Bo,Huang Lulin,Hao Jilong,&Zhang Houbin.(2015).Exome Sequencing Identified a Recessive RDH12 Mutation in a Family with Severe Early-Onset Retinitis Pigmentosa .JOURNAL OF OPHTHALMOLOGY,2015.
MLA：

Gong Bo, et al. "Exome Sequencing Identified a Recessive RDH12 Mutation in a Family with Severe Early-Onset Retinitis Pigmentosa" .JOURNAL OF OPHTHALMOLOGY 2015(2015).
条目包含文件：

文件类型：PDF,文件大小：

正在加载全文

未找到全文

浏览次数：18  下载次数：0

分享到：

浏览次数：18

下载次数：0

打印次数：0