A novel frameshift variant in the TSPAN12 gene causes autosomal dominant FEVR.

ABSTRACT:

Background

Familial exudative vitreoretinopathy (FEVR) is an inherited blinding eye disease with abnormal retinal vascular development. We aim to broaden the variant spectrum of FEVR and provide a basis for molecular diagnosis and genetic consultation.

Methods

We recruited five FEVR patients from one large Chinese family. Whole-exome sequencing (WES) and Sanger sequencing were applied to sequence, analyze, and verify variants on genomic DNA samples. Immunocytochemistry, western blot, qPCR, and luciferase assay were performed to test the influence of the variant on the protein expression and activity of the Norrin/β-catenin pathway.

Results

We identified a novel heterozygous frameshift variant c.533dupC (p.D179Rfs*6) in Tetraspanin 12 (TSPAN12) gene that is related to

SUBMITTER: Peng L 

PROVIDER: S-EPMC9184668 | biostudies-literature | 2022 Jun

REPOSITORIES: biostudies-literature