Article
Molecular analysis of Sanfilippo syndrome type C in Spain: seven novel HGSNAT mutations and characterization of the mutant alleles.
Clinical genetics - 1 Oct 2011
Canals I, Elalaoui S C, Pineda M, Delgadillo V, Szlago M, Jaouad I C, Sefiani A, Chabás A, Coll M J, Grinberg D, Vilageliu L
Abstract excerpt
The Sanfilippo syndrome type C [mucopolysaccharidosis IIIC (MPS IIIC)] is caused by mutations in the HGSNAT gene, encoding an enzyme involved in heparan sulphate degradation. We report the first molecular study on several Spanish Sanfilippo syndrome type C patients. Seven Spanish patients, one Argentinean and three Moroccan patients were analysed. All mutant alleles were identified and comprised nine distinct...
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