Familial Wolfram syndrome due to compound heterozygosity for two novel WFS1 mutations.

ABSTRACT:

Purpose

To describe the first instance of genotyping in a Latin American family with Wolfram syndrome (WS).

Methods

Four affected siblings and their healthy parents were studied. Ophthalmologic examination included best corrected visual acuity determination, funduscopy, fluorescein retinal angiography, and Goldmann kinetic perimetry. Molecular methods included linkage analysis using microsatellites markers located on the markers located on the Wofram syndrome 1 (WFS1) region at 4p16.1, PCR amplification and direct nucleotide sequencing analysis of the complete coding region and exon/intron junctions of WFS1. In addition, allele-specific cloning and sequencing techniques were used to characterize a heterozygous frameshift mutation.

Results

The four affected siblings pr

SUBMITTER: Zenteno JC 

PROVIDER: S-EPMC2483297 | biostudies-literature | 2008 Jul

REPOSITORIES: biostudies-literature