应用新一代目标区域捕获测序揭示视网膜色素变性患者的EYS基因突变  

Targeted exome sequencing identifies EYS mutations in a family with retinitis pigmentosa

作　　者：金卡露 章峥嵘[2] 王毅[2] 

机构地区：[1]嘉兴学院南湖学院,314000 [2]嘉兴学院附属第一医院眼科,314000

出　　处：《中华眼视光学与视觉科学杂志》2016年第1期25-28,共4页Chinese Journal Of Optometry Ophthalmology And Visual Science

摘　　要：目的应用新一代测序技术研究一例散发视网膜色素变性（RP）患者的致病基因突变位点及其临床表型。方法实验研究。收集一散发的RP家系，共3名家庭成员参与研究。其中1名患者，2名正常家属。采集3ml外周静脉血，提取基因组DNA，运用目标区域捕获测序技术来筛查目前已报道的201个遗传性视网膜疾病的致病基因，测序结果运用生物信息学分析得到候选基因，最后用Sanger测序验证。结果临床检查结果显示患者呈现典型的RP临床症状。遗传学筛查结果证实患者在EYS基因上存在2个复合杂合突变：1个杂合的错义突变（c．6416G〉A，P．C2139Y），1个杂合的无义突变（c．8012T〉A，p．L2671X）。Sanger测序结果证实为阳性并且分别遗传自父亲母亲，为常染色体隐性遗传。EYS基因被报道为RP的主要致病基因之一。结论本例患者的EYS基因存在2个杂合突变，是导致RP的致病原因。Objective To determine the disease-causing mutation in a Chinese family with retinitis pigmentosa （RP） and to characterize the clinical phenotypes. Methods Genomic DNA was extracted from each blood sample. We developed a panel for targeted exome sequencing （TES） by selecting 201 inherited retinal dystrophy genes. The proband was performed with TES and comprehensive genetic analyses. Results Ophthalmic examination of the proband showed a typical RP phenotype. After TES and comprehensive genetic analyses, we identified two compound heterozygous mutations （c.6416G〉A, p.C2139Y; c.8012T〉A, p.L2671X） in the EYS gene, which was responsible for causing RP. Conclusion In this study, targeted exome sequencing revealed pathogenic mutations in EYS in a Chinese family with RP.

关 键 词：视网膜炎 色素性 目标区域捕获测序 EYS基因 基因突变 

分 类 号：R774.1[医药卫生—眼科]