Severe Familial Exudative Vitreoretinopathy, Congenital Hearing Loss, and Developmental Delay in a Child With Biallelic Variants in FZD4.

ABSTRACT:

Importance

Familial exudative vitreoretinopathy (FEVR) is a nonsyndromic autosomal dominant retinal disorder commonly caused by variants in the FZD4 gene. This study investigates the potential role beyond ocular abnormalities for FZD4 gene variants in patients with FEVR.

Objective

To evaluate the role of FZD4 in symptoms beyond those associated with FEVR through a patient with biallelic variants in FZD4.

Design, setting, and participants

This case series included the DNA testing and phenotyping of 1 patient proband and her parents, combined with signaling assays, to determine the association of patient-derived compound heterozygous variants on FZD4 signaling and biologic function.

Main outcomes and measures

FZD4 genes were tested using next-generation sequencin

SUBMITTER: van der Ende SR 

PROVIDER: S-EPMC9372905 | biostudies-literature | 2022 Sep

REPOSITORIES: biostudies-literature