Analysis of Sanfilippo A gene mutations in a large pedigree

Paola Di Natale, G. R D Villani, C. Di Domenico, A. Daniele, C. Dionisi Vici, A. Bartuli

Research output: Contribution to journalArticlepeer-review


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.

Original languageEnglish
Pages (from-to)314-318
Number of pages5
JournalClinical Genetics
Issue number4
Publication statusPublished - Apr 1 2003


  • Genetic analysis
  • Sanfilippo A mutations

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics


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