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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
Ethnically diverse causes of walker-warburg syndrome (WWS): FCMD mutations are a more common cause of WWS outside of the middle east
Human Mutation, Volume 29, No. 11, Year 2008
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Description
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 α-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. © 2008 Wiley-Liss, Inc.
Authors & Co-Authors
Manzini, M. Chiara
United States, Boston
Boston Children's Hospital
United States, Chevy Chase
Howard Hughes Medical Institute
Gleason, Danielle
United States, Boston
Boston Children's Hospital
United States, Chevy Chase
Howard Hughes Medical Institute
Chang, Bernard S.
United States, Chevy Chase
Howard Hughes Medical Institute
Hill, Robert Sean
United States, Boston
Boston Children's Hospital
United States, Chevy Chase
Howard Hughes Medical Institute
Barry, Brenda J.
United States, Boston
Boston Children's Hospital
United States, Chevy Chase
Howard Hughes Medical Institute
Partlow, Jennifer Neil
United States, Boston
Boston Children's Hospital
United States, Chevy Chase
Howard Hughes Medical Institute
Poduri, Annapurna H.
United States, Boston
Boston Children's Hospital
Currier, Sophie C.
United States, Boston
Boston Children's Hospital
Galvin-Parton, Patricia A.
United States, Stony Brook
Renaissance School of Medicine at Stony Brook University
Shapiro, Lawrence R.
United States, Valhalla
Westchester Medical Center
Schmidt, Karen R.
United States, Pittsburgh
Upmc Children’s Hospital of Pittsburgh
Davis, Jessica G.
United States, New York
Weill Cornell Medicine
Basel-Vanagaite, Lina
Israel, Petah Tiqwa
Rabin Medical Center Israel
Israel, Tel Aviv-yafo
Tel Aviv University
Seidahmed, Mohammed Zain
Saudi Arabia, Riyadh
Security Forces Hospital Program Riyadh
Salih, Mustafa Abdalla M.
Saudi Arabia, Riyadh
College of Medicine
Dobyns, William B.
United States, Chicago
The University of Chicago
Walsh, Christopher A.
United States, Boston
Boston Children's Hospital
United States, Chevy Chase
Howard Hughes Medical Institute
Statistics
Citations: 69
Authors: 17
Affiliations: 11
Identifiers
Doi:
10.1002/humu.20844
ISSN:
10597794
Research Areas
Cancer
Disability
Genetics And Genomics
Study Design
Cohort Study