[Genetic analysis of a family of Van der Woude syndrome].

ABSTRACT:

Objective

To analyze clinical and genetic features of a family affected with Van der Woude syndrome.

Methods

The umbilical cord blood of the proband and the peripheral blood of the parents were used for the whole exon sequencing to find the candidate gene.Peripheral blood of 9 members of the family were collected for Sanger sequencing verification, bioinformatics analysis and genotype-phenotype correlation analysis.

Results

The proband was diagnosed with cleft lip and palate by ultrasound. His father and grandmother had hollow lower lip and all other family members did not have the similar phenotype. A missense c.263A>G (p.N88S) mutation was found in exon 4 of IRF6 gene in the proband, his father and his grandmother.The mutation was not found in other family me

SUBMITTER: Xu Y 

PROVIDER: S-EPMC8800747 | biostudies-literature | 2019 Jun

REPOSITORIES: biostudies-literature