一例视网膜色素变性患者 C2ORF71基因的变异分析

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...

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

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.