[Identification of pathogenic variant in a Chinese pedigree affected with non-syndromic cleft lip and palate].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 38(1): 52-55, 2021 Jan 10.
Article
em Zh
| MEDLINE
| ID: mdl-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.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Encéfalo
/
Fenda Labial
/
Fissura Palatina
/
Fatores Reguladores de Interferon
Tipo de estudo:
Diagnostic_studies
/
Prognostic_studies
Limite:
Female
/
Humans
País como assunto:
Asia
Idioma:
Zh
Ano de publicação:
2021
Tipo de documento:
Article