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n 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)。n 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n C2ORF71基因的变异谱，并为临床诊断和遗传咨询提供了依据。n “,”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 then 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.n Conclusion:The novel compound heterozygous variants of the n C2ORF71 gene probably underlay the pathogenesis of RP in the proband. Above finding has enriched the spectrum of n C2ORF71 gene mutations and facilitated genetic counseling for the family.n