PMID: 11343308May 9, 2001Paper

Mutation and haplotype analyses in 26 Spanish Sanfilippo syndrome type A patients: possible single origin for 1091delC mutation

American Journal of Medical Genetics
Amparo ChabásLluïsa Vilageliu

Abstract

Mucopolysaccharidosis IIIA, also known as Sanfilippo syndrome type A, is an autosomal recessive storage disorder caused by deficiency of sulfamidase. The disease results in severe central nervous system degeneration often with mild somatic features that may delay the clinical diagnosis. Molecular analyses would allow early and unequivocal heterozygote detection, providing a useful tool for genetic counselling. About 40 mutations have been reported in the sulfamidase gene, with a very uneven distribution in different patient populations. We have previously described the high prevalence of mutation 1091delC in a small number of Spanish Sanfilippo A patients. The aim of the present work is to extend the mutational study to a total of 26 unrelated patients and perform haplotype analysis in order to study the origin of some mutations. The whole coding region of the gene was scanned by SSCP analysis and sequencing. This allowed the identification of 14 different mutations, corresponding to 90% of the mutant alleles. Seven of these mutations were only found in this Spanish group of patients, three of which, R150W, R433Q and R433W, are described here for the first time. We have also analyzed four internal polymorphisms and constructed ...Continue Reading

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Citations

Dec 10, 2013·Orphanet Journal of Rare Diseases·Verónica DelgadilloMercedes Pineda
Jan 21, 2016·The Journal of Pediatrics·Elsa G ShapiroChester B Whitley
Nov 10, 2010·Annals of Neurology·Marlies J ValstarFrits A Wijburg
Nov 16, 2004·Molecular Genetics and Metabolism·Magda MontfortLluïsa Vilageliu
May 13, 2014·Acta Crystallographica. Section D, Biological Crystallography·Navdeep S SidhuRobert Steinfeld

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