Mutation spectrum in a cohort with familial exudative vitreoretinopathy.

ABSTRACT:

Purpose

To expand the mutation spectrum of patients with familial exudative vitreoretinopathy (FEVR) disease.

Participants

74 probands (53 families and 21 sporadic probands) with familial exudative vitreoretinopathy (FEVR) disease and their available family members (n = 188) were recruited for sequencing.

Methods

Panel-based targeted screening was performed on all subjects. Before sanger sequencing, variants of LRP5, NDP, FZD4, TSPAN12, ZNF408, KIF11, RCBTB1, JAG1, and CTNNA1 genes were verified by a series of bioinformatics tools and genotype-phenotype co-segregation analysis.

Results

40.54% (30/74) of the probands were sighted to possess at least one etiological mutation of the nine FEVR-causative genes. The etiological mutation detection rate was 37.74% (20/

SUBMITTER: Qu N 

PROVIDER: S-EPMC9482396 | biostudies-literature | 2022 Sep

REPOSITORIES: biostudies-literature