Next-generation sequencing and novel variant determination in a cohort of 92 familial exudative vitreoretinopathy patients.

ABSTRACT:

Purpose

Familial exudative vitreoretinopathy (FEVR) is a developmental disease that can cause visual impairment and retinal detachment at a young age. Four genes involved in the Wnt signaling pathway were previously linked to this disease: NDP, FDZ4, LRP5, and TSPAN12. Identification of novel disease-causing alleles allows for a deeper understanding of the disease, better molecular diagnosis, and improved treatment.

Methods

Sequencing libraries from 92 FEVR patients were generated using a custom capture panel to enrich for 163 known retinal disease-causing genes in humans. Samples were processed using next generation sequencing (NGS) techniques followed by data analysis to identify and classify single nucleotide variants and small insertions and deletions. Sanger validation

SUBMITTER: Salvo J 

PROVIDER: S-EPMC4365990 | biostudies-literature | 2015 Feb

REPOSITORIES: biostudies-literature