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  • Title: [Identification of pathogenic variant in a Chinese pedigree affected with non-syndromic cleft lip and palate].
    Author: Zhang M, Huang J, Shi F, He J, Xiao H, Wu D, Wang H, Liu H.
    Journal: Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2021 Jan 10; 38(1):52-55. PubMed ID: 33423258.
    Abstract:
    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 the IRF6 gene, which has co-segregated with the phenotype and was not found among the 100 unrelated healthy individuals. CONCLUSION: The missense c.253A>G variant in exon 4 of the IRF6 gene probably underlay the NSCLP in this pedigree.
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