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目的:探讨1例中度听力损失的非综合征耳聋患儿的可能遗传学致病原因。方法:应用二代捕获测序技术对患儿进行耳聋基因检测，通过Sanger测序验证家系成员中听力损失表型和潜在致病变异之间的共分离情况。结果:患儿的n OTOGL基因检测到c．2773C>T(p.Arg925Ter)和c.2826C>G(p.Tyr942Ter)复合杂合变异，患儿父母均表型正常，分别携带c．2773C>T(p.Arg925Ter)和c.2826C>G(p.Tyr942Ter)杂合变异。c．2773C>T(p.Arg925Ter)和c.2826C>G(p.Tyr942Ter)变异都可导致蛋白质合成提前终止，Mutation Taster软件对两变异的致病性预测均为有害，经HGMD专业版数据库查询，c.2773C>T (p.Arg925Ter)已有文献报道，c.2826C>G(p.Tyr942Ter)为未报道过的新变异，根据美国医学遗传学与基因组学学会遗传变异分类标准与指南，两变异均评定为致病性变异(PVS1+PM2+PM4+PP3+PP5, PVS1+PM2+PM4+ PP3)。n 结论:OTOGL基因c.2773C>T(p.Arg925Ter)和c.2826C>G(p.Tyr942Ter)复合杂合变异可能是导致患儿中度耳聋的原因。n “,”Objective:To explore the genetic basis for a child with moderate non-syndromic hearing loss.Methods:Next generation sequencing was carried out for the child. Co-segregation of the phenotype and candidate variants was verified among his family members by Sanger sequencing.Results:The child was found to harbor biallelic variants of the n OTOGL gene, namely c. 2773C>T (p.Arg925Ter) and c. 2826C>G (p.Tyr942Ter), which were respectively inherited from his phenotypically normal father and mother. Both variants were predicted to cause premature termination of protein synthesis and be disease causing by MutationTaster software. The c. 2826C>G (p.Tyr942Ter) variant has not been recorded in the Human Gene Mutation Database. Based on the guidelines of the American College of Medical Genetics and Genomics, both variants were predicted to be pathogenic (PVS1+ PM2+ PM4+ PP3+ PP5 and PVS1+ PM2+ PM4+ PP3, respectively).n Conclusion:The c. 2773C>T (p.Arg925Ter) and c. 2826C>G (p.Tyr942Ter) variants of then OTOGL gene probably underlay the hearing loss in this child.n