A Novel <i>ARL3</i> Gene Mutation Associated With Autosomal Dominant Retinal Degeneration.

ABSTRACT: Despite major progress in the discovery of causative genes, many individuals and families with inherited retinal degenerations (IRDs) remain without a molecular diagnosis. We applied whole exome sequencing to identify the genetic cause in a family with an autosomal dominant IRD. Eye examinations were performed and affected patients were studied with electroretinography and kinetic and chromatic static perimetry. Sequence variants were analyzed in genes (n = 271) associated with IRDs listed on the RetNet database. We applied a stepwise filtering process involving the allele frequency in the control population, in silico prediction tools for pathogenicity, and evolutionary conservation to prioritize the potential causal variant(s). Sanger sequencing and segregation analysis wer

SUBMITTER: Ratnapriya R 

PROVIDER: S-EPMC8416110 | biostudies-literature | 2021

REPOSITORIES: biostudies-literature