Clinical Genetics
Identification of pathogenic variant in a Chinese pedigree affected with non-syndromic cleft lip and palate
Zhang Mingjie, Huang Jia, Shi Feifei, He Jiahuan, Xiao Hai, Wu Dong, Wang Hongdan, Liu Hongyan
Published 2021-01-10
Cite as Chin J Med Genet, 2021, 38(1): 52-55. DOI: 10.3760/cma.j.cn511374-20200308-00144
Abstract
ObjectiveTo explore the genetic basis for a Chinese pedigree affected with non-syndromic cleft lip and cleft palate (NSCLP).
MethodsWith 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.
ResultsWhole-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 theIRF6 gene, which has co-segregated with the phenotype and was not found among the 100 unrelated healthy individuals.
ConclusionThe missense c. 253A>G variant in exon 4 of theIRF6 gene probably underlay the NSCLP in this pedigree.
Key words:
Non-syndromic cleft lip with or without cleft palate; IRF6 gene; Whole-exome sequencing
Contributor Information
Zhang Mingjie
People’s Hospital of Henan University, People’s Hospital of Zhengzhou University, Insitute of Medical Genetics, Hennan Provincial Pelple’s Hospital, Zhengzhou Henan 450003, China
Huang Jia
People’s Hospital of Henan University, People’s Hospital of Zhengzhou University, Insitute of Medical Genetics, Hennan Provincial Pelple’s Hospital, Zhengzhou Henan 450003, China
Shi Feifei
People’s Hospital of Henan University, People’s Hospital of Zhengzhou University, Insitute of Medical Genetics, Hennan Provincial Pelple’s Hospital, Zhengzhou Henan 450003, China
He Jiahuan
People’s Hospital of Henan University, People’s Hospital of Zhengzhou University, Insitute of Medical Genetics, Hennan Provincial Pelple’s Hospital, Zhengzhou Henan 450003, China
Xiao Hai
People’s Hospital of Henan University, People’s Hospital of Zhengzhou University, Insitute of Medical Genetics, Hennan Provincial Pelple’s Hospital, Zhengzhou Henan 450003, China
Wu Dong
People’s Hospital of Henan University, People’s Hospital of Zhengzhou University, Insitute of Medical Genetics, Hennan Provincial Pelple’s Hospital, Zhengzhou Henan 450003, China
Wang Hongdan
People’s Hospital of Henan University, People’s Hospital of Zhengzhou University, Insitute of Medical Genetics, Hennan Provincial Pelple’s Hospital, Zhengzhou Henan 450003, China
Liu Hongyan
People’s Hospital of Henan University, People’s Hospital of Zhengzhou University, Insitute of Medical Genetics, Hennan Provincial Pelple’s Hospital, Zhengzhou Henan 450003, China
