目的:对1个非综合征性耳聋患者家系进行遗传学分析，明确其可能的耳聋病因。方法:应用基因芯片对家系成员进行耳聋基因检测，对基因芯片检测为阴性的成员行全外显子组测序，最后对家系成员中所检出的致病性变异进行Sanger测序验证。结果:该家系两例患者均为非综合征性耳聋，且均存在n TRIOBP基因c.3299C>A/c.5185-2A>G复合杂合变异，其父母听力正常，分别携带n TRIOBP基因c.5185-2A>G和c.3299C>A的杂合变异。家系内基因变异与耳聋表型共分离，查阅相关数据库和文献均未发现以上变异的致病性报道。n 结论:TRIOBP基因是导致非综合征性耳聋的重要遗传因素，本研究发现的c.5185-2A>G和c.3299C>A变异位点丰富了该基因的变异谱，为该耳聋家系的分子诊断及遗传咨询提供了依据。n “,”Objective:To explore the genetic basis for a pedigree affected with non-syndromic hearing loss (NSHL).Methods:Commercialized gene chip was applied to detect common mutations associated with congenital deafness. Whole exome sequencing was carried out for patients for whom gene chip yielded a negative result.Candidate variants were verified by Sanger sequencing.Results:Two patients from the pedigree were discovered to carry compound heterozygous variants of the n TRIOBP gene, namely c. 3299C>A and c. 5185-2A>G. Their parents had normal hearing and were both heterozygous carriers of the above variants. Both variants had co-segregated with the disease phenotype in the pedigree and were unreported previously.n Conclusion:Pathogenic variants of the n TRIOBP gene comprise an important factor for NSHL. The novel c. 5185-2A>G and c. 3299C>A variants discovered in this study have enriched the mutational spectrum of then TRIOBP gene and enabled molecular diagnosis and genetic counseling for the family.n