Gene Variant Spectrum in Probands With Familial Exudative Vitreoretinopathy Using an Expanded Panel.

ABSTRACT:

Purpose

To investigate the gene variant spectrum in patients with familial exudative vitreoretinopathy (FEVR).

Methods

Probands clinically diagnosed with FEVR and their relatives were enrolled and clinical information and DNA collected. An expanded FEVR panel was used, including six recognized FEVR genes (FZD4, NDP, LRP5, TSPAN12, ZNF408, and CTNNB1) and 19 genes previously associated with ocular features overlapping FEVR (FEVR-associated genes). Variants identified using targeted next-generation sequencing and/or Sanger sequencing were analyzed and classified using the American College of Medical Genetics and Clinical Genome Resource Sequence Variant Interpretation (ClinGen SVI) working group recommendations to detect disease-causing variants (DCVs).

Results

Analyses

SUBMITTER: van der Ende S 

PROVIDER: S-EPMC11809447 | biostudies-literature | 2025 Feb

REPOSITORIES: biostudies-literature