title: Analysis of Sanfilippo A gene mutations in a large pedigree.
abstract: 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.
authors.affiliation: Dipartimento di Biochimica e Biotecnologie Mediche, University of Naples Federico II, Italy. dinatale@unina.it
authors.forename: P
authors.initials: P
authors.lastname: Di Natale
authors.forename: G R D
authors.initials: GR
authors.lastname: Villani
authors.forename: C
authors.initials: C
authors.lastname: Di Domenico
authors.forename: A
authors.initials: A
authors.lastname: Daniele
authors.forename: C
authors.initials: C
authors.lastname: Dionisi Vici
authors.forename: A
authors.initials: A
authors.lastname: Bartuli
mesh_terms: D000293:Adolescent; D002675:Child, Preschool; D006801:Humans; D007558:Italy; D008297:Male; D009084:Mucopolysaccharidosis III / Q000235:genetics* / Q000503:physiopathology*; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D018807:Polymorphism, Single-Stranded Conformational; D017422:Sequence Analysis, DNA