| Autor: |
Chiara Manzini, M., Gleason, Danielle, Chang, Bernard S., Sean Hill, R., Barry, Brenda J., Partlow, Jennifer N., Poduri, Annapurna, Currier, Sophie, Galvin-Parton, Patricia, Shapiro, Lawrence R., Schmidt, Karen, Davis, Jessica G., Basel-Vanagaite, Lina, Seidahmed, Mohamed Z., Salih, Mustafa A. M., Dobyns, William B., Walsh, Christopher A. |
| Zdroj: |
Human Mutation; Nov2008, Vol. 29 Issue 11, pE231-E241, 11p |
| Abstrakt: |
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. © 2008 Wiley-Liss, Inc. [ABSTRACT FROM AUTHOR] |
| Databáze: |
Complementary Index |
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