Functional Characterization of a Novel IRF6 Frameshift Mutation From a Van Der Woude Syndrome Family.

ABSTRACT:

Background

Loss-of-function mutations in interferon regulatory factor-6 (IRF6) are responsible for about 70% of cases of Van Der Woude Syndrome (VWS), an autosomal dominant developmental disorder characterized by pits and/or sinuses of the lower lip and cleft lip, cleft palate, or both.

Methods

We collected a Chinese Han VWS pedigree, performed sequencing and screening for the causal gene mutant. Initially, species conservation analysis and homology protein modeling were used to predict the potential pathogenicity of mutations. To test whether a VWS family-derived mutant variant of IRF6 retained function, we carried out rescue assays in irf6 maternal-null mutant zebrafish embryos. To assess protein stability, we overexpressed reference and family-variant

SUBMITTER: Zhang M 

PROVIDER: S-EPMC7289175 | biostudies-literature | 2020

REPOSITORIES: biostudies-literature