Retinitis pigmentosa (RP) is a genetically highly heterogeneous retinal disease and one of the leading causes of blindness in the world. Next-generation sequencing technology has enormous potential for determining the genetic etiology of RP. We sought to identify the underlying genetic defect in a 35-year-old male from an autosomal-dominant RP family with 14 affected individuals. By capturing next-generation sequencing (CNGS) of 144 genes associated with retinal diseases, we identified eight novel DNA variants; however, none of them cosegregated for all the members of the family. Further analysis of the CNGS data led to identification of a recurrent missense mutation (c.403C > T, p.R135W) in the rhodopsin (RHO) gene, which cosegregated with all affected individuals in the family and was not observed in any of the unaffected family members. The p.R135W mutation has a reference single nucleotide polymorphism (SNP) ID (rs104893775), and it appears to be responsible for the disease in this large family. This study highlights the importance of examining NGS data with reference SNP IDs. Thus, our study is important for data analysis of NGS-based clinical genetic diagnoses.
基金：
Chinese National Program on Key Basic Research Project (973 Program) [2013CB967502]; Natural Science Foundation of ChinaNational Natural Science Foundation of China [81201181/H1818]; Zhejiang provincial & Ministry of Health research fund for medical sciences [WKJ2013-2-023]; Wenzhou city grant [Y20140633]; Wenzhou Medical University grant [QTJ12011]; Eye Hospital at WenZhou Medical University [YNCX201309, YNZD201502]
第一作者机构：[1]Wenzhou Med Univ, State Key Lab Cultivat Base, Sch Ophthalmol & Optometry, Hosp Eye, Wenzhou 325027, Zhejiang, Peoples R China;[2]Minist Hlth, Key Lab Vis Sci, Wenzhou 325027, Zhejiang, Peoples R China;[3]Zhejiang Prov Key Lab Ophthalmol & Optometry, Wenzhou 325027, Zhejiang, Peoples R China;
通讯作者：
通讯机构：[1]Wenzhou Med Univ, State Key Lab Cultivat Base, Sch Ophthalmol & Optometry, Hosp Eye, Wenzhou 325027, Zhejiang, Peoples R China;[2]Minist Hlth, Key Lab Vis Sci, Wenzhou 325027, Zhejiang, Peoples R China;[3]Zhejiang Prov Key Lab Ophthalmol & Optometry, Wenzhou 325027, Zhejiang, Peoples R China;
推荐引用方式(GB/T 7714)：
Yu Xinping,Shi Wei,Cheng Lulu,et al.Identification of a rhodopsin gene mutation in a large family with autosomal dominant retinitis pigmentosa[J].SCIENTIFIC REPORTS.2016,6:-.doi:10.1038/srep19759.
APA：
Yu, Xinping,Shi, Wei,Cheng, Lulu,Wang, Yanfang,Chen, Ding...&Gu, Feng.(2016).Identification of a rhodopsin gene mutation in a large family with autosomal dominant retinitis pigmentosa.SCIENTIFIC REPORTS,6,
MLA：
Yu, Xinping,et al."Identification of a rhodopsin gene mutation in a large family with autosomal dominant retinitis pigmentosa".SCIENTIFIC REPORTS 6.(2016):-
