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Published on: August 15, 2019
[Identification of pathogenic variant in a Chinese pedigree affected with non-syndromic cleft lip and palate]
Mingjie Zhang1, Jia Huang, Feifei Shi
1People's Hospital of Henan University, People's Hospital of Zhenzhou University, Insitute of Medical Genetics, Hennan Provincial Pelple's Hospital, Henan 450003, China. liuhongyanqhhy@ 126.com.
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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