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目的:确定1个常染色体显性遗传性迟发性非综合征性耳聋 (non-syndromic hearing loss，NSHL)家系的致病变异。方法:收集先证者及其家系成员的临床资料，采集其外周血样，提取基因组DNA，应用核心家系全外显子组测序对先证者及其父母19 396个基因的编码区及侧翼序列进行测序，寻找可能的致病变异。用Sanger测序法验证候选变异并对家系其他成员进行检测。结果:发现先证者n DFNA5基因第8内含子存在1个单碱基缺失杂合变异(c.1183＋1delG p．？)，该变异为父源性。n 结论:应用核心家系全外显子组测序确定了1个迟发性NSHL家系的致病变异，为遗传咨询提供了依据。“,”Objective:To explore the genetic basis for a pedigree affected with autosomal dominant late-onset non-syndromic hearing loss (NSHL).Methods:Clinical data of the pedigree were collected. Genomic DNA was extracted from peripheral blood samples of the proband and other family members. Trio whole exome sequencing was carried out for 19 396 genes in order to find potential pathogenic variants. Sanger sequencing was carried out to verify candidate variant in the pedigree.Results:The proband and his father were found to carry a c. 1183+ 1delG p. ? variant of the n DFNA5 gene. The variant was confirmed to be co-segregating with the disease phenotype in the pedigree.n Conclusion:The c. 1183+ 1delG p. ? variant of the n DFNA5 gene probably underlay the late onset NSHL in this pedigree. Above finding has enabled accurate genetic counseling for this pedigree.n