Founder Fukutin mutation causes Walker-Warburg syndrome in four Ashkenazi Jewish families.

ABSTRACT:

Objective

Walker-Warburg syndrome (WWS) is a genetically heterogeneous congenital muscular dystrophy caused by abnormal glycosylation of alpha-dystroglycan (alpha-DG) that is associated with brain malformations and eye anomalies. The Fukutin (FKTN) gene, which causes autosomal recessively inherited WWS is most often associated with Fukuyama congenital muscular dystrophy in Japan. We describe the clinical features of four nonconsanguinous Ashkenazi Jewish families with WWS and identify the underlying genetic basis for WWS.

Method

We screened for mutations in POMGnT1, POMT1, POMT2, and FKTN, genes causing WWS, by dideoxy sequence analysis.

Results

We identified an identical homozygous c.1167insA mutation in the FKTN gene on a common haplotype in all four families and id

SUBMITTER: Chang W 

PROVIDER: S-EPMC2735827 | biostudies-literature | 2009 Jun

REPOSITORIES: biostudies-literature