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Founder Fukutin mutation causes Walker-Warburg syndrome in four Ashkenazi Jewish families
Journal article   Open access   Peer reviewed

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

Wendy Chang, Thomas L Winder, Charles A LeDuc, Lynn L Simpson, William S Millar, Jeffrey Dungan, Norman Ginsberg, Stacey Plaga, Steven A Moore and Wendy K Chung
Prenatal diagnosis, Vol.29(6), pp.560-569
06/2009
DOI: 10.1002/pd.2238
PMCID: PMC2735827
PMID: 19266496
url
http://doi.org/10.1002/pd.2238View
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Abstract

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. We screened for mutations in POMGnT1, POMT1, POMT2, and FKTN, genes causing WWS, by dideoxy sequence analysis. We identified an identical homozygous c.1167insA mutation in the FKTN gene on a common haplotype in all four families and identified 2/299 (0.7%) carriers for the c.1167insA mutation among normal American Ashkenazi Jewish adults. These data suggest that the c.1167insA FKTN mutation described by us is a founder mutation that can be used to target diagnostic testing and carrier screening in the Ashkenazi Jewish population.
 Mutation Pregnancy Haplotypes Exons Membrane Proteins - genetics Humans Child, Preschool Infant Male Brain - abnormalities Muscular Dystrophies - genetics Jews - genetics Syndrome Pedigree Ultrasonography, Prenatal Fatal Outcome Adult Female Muscular Dystrophies - diagnostic imaging Infant, Newborn

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