Identification of pathogenic variant in a Chinese pedigree affected with non-syndromic cleft lip and palate.
10.3760/cma.j.cn511374-20200308-00144
- Author:
Mingjie ZHANG
1
;
Jia HUANG
;
Feifei SHI
;
Jiahuan HE
;
Hai XIAO
;
Dong WU
;
Hongdan WANG
;
Hongyan LIU
Author Information
1. People'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.
- Publication Type:Journal Article
- MeSH:
Brain/abnormalities*;
China;
Cleft Lip/genetics*;
Cleft Palate/genetics*;
Female;
Humans;
Interferon Regulatory Factors/genetics*;
Mutation, Missense;
Pedigree;
Whole Exome Sequencing
- From:
Chinese Journal of Medical Genetics
2021;38(1):52-55
- CountryChina
- Language:Chinese
-
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.
