Diverse clinical phenotypes associated with a nonsense mutation in FAM161A.

ABSTRACT:

Purpose

Mutations in the FAM161A gene have been reported in association with autosomal recessive retinitis pigmentosa (arRP) in several ethnic populations. This study aimed to assess the prevalence of FAM161A-related retinopathy in a British cohort and to characterise the phenotype associated with mutations in this gene.

Methods

The FAM161A coding region and intron-exon boundaries were screened by Sanger sequencing in 120 retinitis pigmentosa (RP) patients (with likely autosomal recessive inheritance) in whom mutations in other known major RP genes have been ruled out by commercially available testing. Homozygosity mapping was performed in one consanguineous family, and high-throughput sequencing of candidate genes was performed to identify disease-associated changes. Clinic

SUBMITTER: Rose AM 

PROVIDER: S-EPMC4565954 | biostudies-literature | 2015 Sep

REPOSITORIES: biostudies-literature