title: Molecular analysis of the arylsulphatase A gene in late infantile metachromatic leucodystrophy patients and healthy subjects from Italy.
abstract: A molecular analysis of the arylsulphatase A gene was performed on 26 unrelated, Italian, late infantile metachromatic leucodystrophy patients. The frequency of the common disease causing mutations 609A and 2381T was 28.8% and 1.9% respectively. Pseudodeficiency allele frequency in patients was found to be 13.5% and a frequency of 10.1% was found in 89 unaffected normal controls. The frequency of the 609A mutation in Italian late infantile patients is lower than in late infantile patients from northern Europe, suggesting a higher frequency of different sporadic mutations in the Italian population. A cooperative in cis effect in phenotype determination involving arylsulphatase A mutations and the eventual background of the pseudodeficiency allele is proposed.
authors.affiliation: Laboratorio di Diagnosi Pre e Post Natale di Malattie Metaboliche, Istituto G Gaslini, Genova, Italy.
authors.forename: S
authors.initials: S
authors.lastname: Regis
authors.forename: M
authors.initials: M
authors.lastname: Filocamo
authors.forename: M
authors.initials: M
authors.lastname: Stroppiano
authors.forename: F
authors.initials: F
authors.lastname: Corsolini
authors.forename: R
authors.initials: R
authors.lastname: Gatti
mesh_terms: D000483:Alleles; D002553:Cerebroside-Sulfatase / Q000235:genetics*; D006801:Humans; D007223:Infant; D007558:Italy; D007966:Leukodystrophy, Metachromatic / Q000201:enzymology / Q000235:genetics*; D009154:Mutation; D010641:Phenotype; D016133:Polymerase Chain Reaction / Q000379:methods; D012150:Polymorphism, Restriction Fragment Length; D012016:Reference Values; D015183:Restriction Mapping
chemical_list: D002553:Cerebroside-Sulfatase