Clinical characterisation and molecular analysis of Wagner syndrome.

ABSTRACT:

Aim

To detail the clinical findings in a British family with molecularly characterised Wagner syndrome.

Background

Only in the last year has the specific genetic defect in Wagner syndrome been identified, and the background literature of the molecular genetics is outlined. Clinical and laboratory findings in a second case of Wagner syndrome are included to highlight difficulties that can be encountered when identifying pathogenic mutations for disorders arising in complex genes.

Methods

Mutation screening was performed using PCR and RT-PCR.

Results

A heterozygous mutation was found converting the donor splice site of exon 8 of the chondroitin sulphate proteoglycan 2 (CSPG2). This is the same mutation that has been reported in the original Wagner pedigree. The m

SUBMITTER: Meredith SP 

PROVIDER: S-EPMC1954774 | biostudies-literature | 2007 May

REPOSITORIES: biostudies-literature