title: Mutations among Italian mucopolysaccharidosis type I patients.
abstract: A group of 27 Italian patients was screened for alpha-L-iduronidase mucopolysaccharidosis type I mutations. Mutations were found in 18 patients, with 28 alleles identified. The two most common mutations in northern Europeans (W402X and Q70X) accounted for 11% and 13% of the alleles, respectively. The R89Q mutation, uncommon in Europeans, was found only in one patient, accounting for 1 of 54 alleles (1.9%). The other mutations, P533R, A327P and G51D, accounted for 11%, 5.6% and 9.3% of the total alleles, respectively. Interestingly, the high frequency of the P533R mutation seems to be confined to Sicily and is higher than the 3% reported in a British/Australian study.
authors.affiliation: Laboratorio di Diagnosi Pre e Postnatale delle Malattie Metaboliche, G. Gaslini Institute, Genova.
authors.forename: R
authors.initials: R
authors.lastname: Gatti
authors.forename: P
authors.initials: P
authors.lastname: DiNatale
authors.forename: G R
authors.initials: GR
authors.lastname: Villani
authors.forename: M
authors.initials: M
authors.lastname: Filocamo
authors.forename: V
authors.initials: V
authors.lastname: Muller
authors.forename: X H
authors.initials: XH
authors.lastname: Guo
authors.forename: P V
authors.initials: PV
authors.lastname: Nelson
authors.forename: H S
authors.initials: HS
authors.lastname: Scott
authors.forename: J J
authors.initials: JJ
authors.lastname: Hopwood
mesh_terms: D000293:Adolescent; D000483:Alleles; D002648:Child; D004247:DNA / Q000032:analysis; D005787:Gene Frequency; D005838:Genotype; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D007068:Iduronidase / Q000235:genetics*; D007558:Italy; D008297:Male; D008059:Mucopolysaccharidosis I / Q000235:genetics*; D009154:Mutation; D010641:Phenotype; D012802:Sicily
chemical_list: D004247:DNA; D007068:Iduronidase