Defects in the Cell Signaling Mediator β-Catenin Cause the Retinal Vascular Condition FEVR.

ABSTRACT: Familial exudative vitreoretinopathy (FEVR) is an inherited blinding disorder characterized by the abnormal development of the retinal vasculature. The majority of mutations identified in FEVR are found within four genes that encode the receptor complex (FZD4, LRP5, and TSPAN12) and ligand (NDP) of a molecular pathway that controls angiogenesis, the Norrin-β-catenin signaling pathway. However, half of all FEVR-affected case subjects do not harbor mutations in these genes, indicating that further mutated genes remain to be identified. Here we report the identification of mutations in CTNNB1, the gene encoding β-catenin, as a cause of FEVR. We describe heterozygous mutations (c.2142_2157dup [p.His720^∗] and c.2128C>T [p.Arg710Cys]) in two dominant FEVR-affected families and a de no

SUBMITTER: Panagiotou ES 

PROVIDER: S-EPMC5473728 | biostudies-literature | 2017 Jun

REPOSITORIES: biostudies-literature