Contribution of noncoding pathogenic variants to RPGRIP1-mediated inherited retinal degeneration.

ABSTRACT:

Purpose

With the advent of gene therapies for inherited retinal degenerations (IRDs), genetic diagnostics will have an increasing role in clinical decision-making. Yet the genetic cause of disease cannot be identified using exon-based sequencing for a significant portion of patients. We hypothesized that noncoding pathogenic variants contribute significantly to the genetic causality of IRDs and evaluated patients with single coding pathogenic variants in RPGRIP1 to test this hypothesis.

Methods

IRD families underwent targeted panel sequencing. Unsolved cases were explored by exome and genome sequencing looking for additional pathogenic variants. Candidate pathogenic variants were then validated by Sanger sequencing, quantitative polymerase chain reaction, and in vitro splici

SUBMITTER: Jamshidi F 

PROVIDER: S-EPMC6399075 | biostudies-literature | 2019 Mar

REPOSITORIES: biostudies-literature