Targeted next generation sequencing reveals genetic defects underlying inherited retinal disease in Iranian families.

ABSTRACT:

Purpose

Inherited retinal diseases (IRDs) are clinically and genetically heterogeneous showing progressive retinal cell death which results in vision loss. IRDs include a wide spectrum of disorders, such as retinitis pigmentosa (RP), Leber congenital amaurosis (LCA), cone-rod dystrophy (CRD), and Stargardt disease (STGD1).

Methods

In this study, we performed targeted next-generation sequencing based on molecular inversion probes (MIPs) that allowed the sequence analysis of 108 IRD-associated genes in 50 Iranian IRD probands.

Results

The sequencing and variant filtering led to the identification of putative pathogenic variants in 36 out of 50 (72%) probands. Among 36 unique variants, we identified 20 novel variants in 15 genes. Four out of 36 probands carry compound he

SUBMITTER: Tayebi N 

PROVIDER: S-EPMC6377375 | biostudies-literature | 2019

REPOSITORIES: biostudies-literature