A novel mutation and phenotypes in phosphodiesterase 6 deficiency.

ABSTRACT:

Purpose

To develop a systematic approach for the molecular diagnosis of retinitis pigmentosa (RP) and to report new genotype-phenotype correlations for phosphodiesterase 6 (PDE6)-based RP mutations.

Design

Clinical and molecular studies on a retrospective case series.

Methods

We screened 40 unrelated RP patients with an autosomal recessive RP microarray. Individuals with RP caused by PDE6 deficiency underwent genetic segregation and phenotype analysis.

Results

A disease-associated allele was identified in 32% of patients. Two probands (5%) had PDE6 mutations. The first proband was a compound heterozygote for known R102C and N216S alleles in PDE6A (MIM#180071). Pedigree analysis determined that the N216S variant was benign and direct sequencing discovered a nove

SUBMITTER: Tsang SH 

PROVIDER: S-EPMC2593460 | biostudies-literature | 2008 Nov

REPOSITORIES: biostudies-literature