Ethnically diverse causes of Walker-Warburg syndrome (WWS): FCMD mutations are a more common cause of WWS outside of the Middle East.

Abstract

Walker-Warburg syndrome (WWS) is a genetically heterogeneous autosomal recessive disease characterized by congenital muscular dystrophy, cobblestone lissencephaly, and ocular malformations. Mutations in six genes involved in the glycosylation of á-dystroglycan (POMT1, POMT2, POMGNT1, FCMD, FKRP and LARGE) have been identified in WWS patients, but account for only a portion of WWS cases. To better understand the genetics of WWS and establish the frequency and distribution of mutations across WWS genes, we genotyped all known loci in a cohort of 43 WWS patients of varying geographical and ethnic origin. Surprisingly, we reached a molecular diagnosis for 40% of our patients and found mutations in POMT1, POMT2, FCMD and FKRP, many of which were novel alleles, but no mutations in POMGNT1 or LARGE. Notably, the FCMD gene was a more common cause of WWS than previously expected in the European/American subset of our cohort, including all Ashkenazi Jewish cases, who carried the same founder mutation.

DOI: 10.1002/humu.20844

6 Figures and Tables

Statistics

0102030200920102011201220132014201520162017
Citations per Year

72 Citations

Semantic Scholar estimates that this publication has 72 citations based on the available data.

See our FAQ for additional information.

Cite this paper

@article{Manzini2008EthnicallyDC, title={Ethnically diverse causes of Walker-Warburg syndrome (WWS): FCMD mutations are a more common cause of WWS outside of the Middle East.}, author={M Chiara Manzini and Danielle Gleason and Bernard S. Chang and Robert Sean Hill and B Barry and Jennifer N. Partlow and Annapurna Poduri and Sophie C Currier and Patricia Galvin-Parton and Lawrence R Shapiro and Karen K Schmidt and Jessica Davis and Lina Basel-Vanagaite and Mohamed Zein Seidahmed and Mustafa A Salih and William B Dobyns and Christopher A Walsh}, journal={Human mutation}, year={2008}, volume={29 11}, pages={E231-41} }