一例视网膜色素变性患者C2ORF71基因的变异分析  

Analysis of C2ORF71 gene variant in a Chinese patient with retinitis pigmentosa

作　　者：刘曼[1] 卢亦路[1] 马用信[1] Liu Man;Lu Yilu;Ma Yongxin(Department of Medical Genetics,West China Hospital,Sichuan University,Chengdu,Sichuan 610041,China)

机构地区：[1]四川大学华西医院医学遗传中心,成都610041

出　　处：《中华医学遗传学杂志》2022年第1期52-55,共4页Chinese Journal of Medical Genetics

摘　　要：目的分析1例视网膜色素变性(retinitis pigmentosa,RP)患者的基因变异,明确其可能的遗传学病因。方法应用全外显子测序技术对先证者进行致病基因筛查,结合临床表型确定可疑变异,应用Sanger测序法验证检出的变异,分析双亲携带变异位点的情况。采用多种软件对所检出的变异进行致病性分析。结果全外显子测序结果显示先证者C2ORF71基因存在c.8G>A(p.Cys3Tyr)和c.958_959insA(p.Arg320Glnfs*29)复合杂合变异。Sanger测序验证显示其父亲携带c.8G>A(p.Cys3Tyr)杂合变异,母亲携带c.958_959insA(p.Arg320Glnfs*29)杂合变异,因此先证者的变异分别来自父母。两个变异均为新变异,根据美国医学遗传学与基因组学学会基因变异指南,c.8G>A变异判定为可能致病性变异(PM2+PP3+PS3),c.958_959insA判定为致病性变异(PM2+PVS1+PM4+PP4)。结论C2ORF71基因c.8G>A(p.Cys3Tyr)和c.958_959insA(p.Arg320Glnfs*29)复合杂合变异可能为该家系患者的遗传学病因,新变异的检出丰富了C2ORF71基因的变异谱,并为临床诊断和遗传咨询提供了依据。Objective To explore the genetic basis for a Chinese patient with retinitis pigmentosa(RP).Methods Whole exome sequencing(WES)was carried out to screen potential variant in the proband.Candidate variants were determined by taking consideration of clinical phenotype.Sanger sequencing was used to verify the variant in the proband and his parents.Results The proband was found to harbor compound heterozygous variants of c.8G>A(p.Cys3Tyr)and c.958_959insA(p.Arg320Glnfs*29)in the C2ORF71 gene,which has derived from his father and mother,respectively.Both variants were unreported previously.Based on the ACMG guidelines,they were predicted to be likely pathogenic and pathogenic,respectively.Conclusion The novel compound heterozygous variants of the C2ORF71 gene probably underlay the pathogenesis of RP in the proband.Above finding has enriched the spectrum of C2ORF71 gene mutations and facilitated genetic counseling for the family.

关 键 词：视网膜色素变性 C2ORF71基因 基因变异 全外显子测序 

分 类 号：R774.1[医药卫生—眼科]