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Clin Genet. 2003 Apr;63(4):314-8.

Analysis of Sanfilippo A gene mutations in a large pedigree.

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  • 1Dipartimento di Biochimica e Biotecnologie Mediche, University of Naples Federico II, Italy.


Mucopolysaccharidosis type IIIA, also known as Sanfilippo A disease, results from mutations in the sulfamidase gene. To date, a total of 62 mutations have been described underlying this lysosomal disorder. Expression studies on missense mutations have shown that each alteration was disease-causing and helped to clarify the genotype-phenotype correlation. In this report we describe a large pedigree where the mutations have been identified in two second cousins: one with severe disease (E369K/R433Q) and the other with a mild form of the illness (E369K/P128L). This study places R433Q as a severe mutation underlying Sanfilippo A disease.

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