Functional and genetic analyses of ZYG11B provide evidences for its involvement in OAVS.

ABSTRACT:

Background

The Oculo-Auriculo-Vertebral Spectrum (OAVS) or Goldenhar Syndrome is an embryonic developmental disorder characterized by hemifacial microsomia associated with auricular, ocular and vertebral malformations. The clinical heterogeneity of this spectrum and its incomplete penetrance limited the molecular diagnosis. In this study, we describe a novel causative gene, ZYG11B.

Methods

A sporadic case of OAVS was analyzed by whole exome sequencing in trio strategy. The identified candidate gene, ZYG11B, was screened in 143 patients by next generation sequencing. Overexpression and immunofluorescence of wild-type and mutated ZYG11B forms were performed in Hela cells. Moreover, morpholinos were used for transient knockdown of its homologue in zebrafish embryo.

Results</

SUBMITTER: Tingaud-Sequeira A 

PROVIDER: S-EPMC7549578 | biostudies-literature | 2020 Oct

REPOSITORIES: biostudies-literature