Genetic detection of two novel LRP5 pathogenic variants in patients with familial exudative vitreoretinopathy.

ABSTRACT:

Background

Familial exudative vitreoretinopathy (FEVR) is a genetic eye disorder that leads to abnormal development of retinal blood vessels, resulting in vision impairment. This study aims to identify pathogenic variants by targeted exome sequencing in 9 independent pedigrees with FEVR and characterize the novel pathogenic variants by molecular dynamics simulation.

Methods

Clinical data were collected from 9 families with FEVR. The causative genes were screened by targeted next-generation sequencing (TGS) and verified by Sanger sequencing. In silico analyses (SIFT, Polyphen2, Revel, MutationTaster, and GERP + +) were carried out to evaluate the pathogenicity of the variants. Molecular dynamics was simulated to predict protein conformation and flexibility transformation alte

SUBMITTER: Li J 

PROVIDER: S-EPMC10685552 | biostudies-literature | 2023 Nov

REPOSITORIES: biostudies-literature