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[Identification of pathogenic variant in a Chinese pedigree affected with non-syndromic cleft lip and palate].

Research paper by Mingjie M Zhang, Jia J Huang, Feifei F Shi, Jiahuan J He, Hai H Xiao, Dong D Wu, Hongdan H Wang, Hongyan H Liu

Indexed on: 11 Jan '21Published on: 11 Jan '21Published in: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics



Abstract

To explore the genetic basis for a Chinese pedigree affected with non-syndromic cleft lip and cleft palate (NSCLP). 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. 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 the IRF6 gene, which has co-segregated with the phenotype and was not found among the 100 unrelated healthy individuals. The missense c.253A>G variant in exon 4 of the IRF6 gene probably underlay the NSCLP in this pedigree.