Copy-number variation is an important contributor to the genetic causality of inherited retinal degenerations.

ABSTRACT:

Purpose

Despite substantial progress in sequencing, current strategies can genetically solve only approximately 55-60% of inherited retinal degeneration (IRD) cases. This can be partially attributed to elusive mutations in the known IRD genes, which are not easily identified by the targeted next-generation sequencing (NGS) or Sanger sequencing approaches. We hypothesized that copy-number variations (CNVs) are a major contributor to the elusive genetic causality of IRDs.

Methods

Twenty-eight cases previously unsolved with a targeted NGS were investigated with whole-genome single-nucleotide polymorphism (SNP) and comparative genomic hybridization (CGH) arrays.

Results

Deletions in the IRD genes were detected in 5 of 28 families, including a de novo deletion. We suggest

SUBMITTER: Bujakowska KM 

PROVIDER: S-EPMC6377944 | biostudies-literature | 2017 Jun

REPOSITORIES: biostudies-literature