title: Unique frequency of known mutations in Brazilian MPS I patients.
abstract: The frequency of 10 known mutations in the IDUA gene-Q70X, A75T, H82P, R89Q, 678-7 g-->a, L218P, A327P, R383H, W402X, and P533R-was estimated in a group of 24 index cases with mucopolysaccharidosis type I. Three affected relatives were also analysed. Six of the 10 mutations screened were present in our patients (Q70X, R89Q, A327P, R383H, W402X, and P533R). These mutations account for 54% of the alleles; 37% of the genotypes were defined. Frequencies of these mutations are markedly different from those in the literature. A novel combination Q70X/A327P is described. This was the first time Brazilian MPS I patients were analysed with molecular techniques. The low frequency of common mutations indicates that a more comprehensive analysis of the IDUA gene should be done to delineate the mutation profile of MPS I better in our population.
authors.affiliation: Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil. matte@orion.ufrgs.br
authors.forename: U
authors.initials: U
authors.lastname: Matte
authors.forename: S
authors.initials: S
authors.lastname: Leistner
authors.forename: L
authors.initials: L
authors.lastname: Lima
authors.forename: I
authors.initials: I
authors.lastname: Schwartz
authors.forename: R
authors.initials: R
authors.lastname: Giugliani
mesh_terms: D001938:Brazil; D005787:Gene Frequency; D006801:Humans; D008059:Mucopolysaccharidosis I / Q000235:genetics*; D009154:Mutation