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目的:对一个非综合征型唇腭裂家系进行分子遗传学研究，探寻其致病原因。方法:对该家系成员进行详细的体格检查和既往史调查，排除综合征型唇腭裂。对该家系1例患儿的基因组DNA进行全外显子组测序及生物信息学分析。筛查到候选致病基因突变位点后，采用Sanger测序对该家系成员及100名健康对照个体进行共分离分析和人群验证分析。结果:全外显子组测序及疾病共分离分析显示，该家系患者n IRF6基因第4外显子存在c.253A>G(p.Cys85Arg)变异，且该突变未在健康对照个体中检出，文献尚未见报道。n 结论:IRF6基因第4外显子c.253A>G错义变异是导致该家系发病的原因。n “,”Objective:To explore the genetic basis for a Chinese pedigree affected with non-syndromic cleft lip and cleft palate (NSCLP).Methods:With informed consent obtained, members of the pedigree were subjected to clinical examination and history taking to exclude syndromic cleft lip and palate. One affected member was subjected to whole-exome sequencing and bioinformatics analysis. Candidate variant was verified by Sanger sequencing and co-segregation analysis of her family members and 100 unrelated healthy individuals.Results:Whole-exome sequencing and co-segregation analysis showed that all affected members of this pedigree have carried a heterozygous missense c. 253A>G (p.Cys85Arg) variant in exon 4 of then IRF6 gene, which has co-segregated with the phenotype and was not found among the 100 unrelated healthy individuals.n Conclusion:The missense c. 253A>G variant in exon 4 of then IRF6 gene probably underlay the NSCLP in this pedigree.n