An intronic deletion in the PROM1 gene leads to autosomal recessive cone-rod dystrophy.

ABSTRACT:

Purpose

To investigate the genetic basis for autosomal recessive cone-rod dystrophy (CRD) in a consanguineous Israeli Jewish family.

Methods

Patients underwent a detailed ophthalmic evaluation, including eye examination, visual field testing, optical coherence tomography (OCT), and electrophysiological tests, electroretinography (ERG) and visual evoked potential (VEP). Genome-wide homozygosity mapping using a single nucleotide polymorphism (SNP) array was performed to identify homozygous regions shared among two of the affected individuals. Mutation screening of the underlying gene was performed with direct sequencing. In silico and in vitro analyses were used to predict the effect of the identified mutation on splicing.

Results

The affected family members are three s

SUBMITTER: Eidinger O 

PROVIDER: S-EPMC4676936 | biostudies-literature | 2015

REPOSITORIES: biostudies-literature