title: Mutation analysis of the iduronate-2-sulfatase gene in patients with mucopolysaccharidosis type II (Hunter syndrome).
abstract: Iduronate-2-sulfatase (IDS) cDNA from fibroblasts of nine patients with Hunter syndrome (mucopolysaccharidosis type II) was screened for mutations using single strand conformation polymorphism analysis. Direct sequencing revealed a number of different mutations including missense or nonsense point mutations, deletions of one, two, or 60 base pairs, and a 22 base pair-insertion. Mutations of these types probably account for most IDS gene defects as only about 20% of Hunter patients have a complete deletion or gross structural alteration of their IDS gene. Thus the broad clinical variability amongst the Hunter patients may be due to the extensive genetic heterogeneity seen. The relationship between genotype and clinical phenotype is analysed in 12 Hunter patients.
authors.affiliation: Institut für Humangenetik, Medizinische Universität, Lübeck, Germany.
authors.forename: S
authors.initials: S
authors.lastname: Bunge
authors.forename: C
authors.initials: C
authors.lastname: Steglich
authors.forename: M
authors.initials: M
authors.lastname: Beck
authors.forename: W
authors.initials: W
authors.lastname: Rosenkranz
authors.forename: E
authors.initials: E
authors.lastname: Schwinger
authors.forename: J J
authors.initials: JJ
authors.lastname: Hopwood
authors.forename: A
authors.initials: A
authors.lastname: Gal
mesh_terms: D000293:Adolescent; D000328:Adult; D000595:Amino Acid Sequence; D001483:Base Sequence; D002648:Child; D002675:Child, Preschool; D004247:DNA / Q000235:genetics; D004252:DNA Mutational Analysis; D005838:Genotype; D006801:Humans; D007066:Iduronate Sulfatase / Q000235:genetics*; D008297:Male; D008969:Molecular Sequence Data; D016532:Mucopolysaccharidosis II / Q000201:enzymology* / Q000235:genetics*; D009154:Mutation; D010641:Phenotype; D016133:Polymerase Chain Reaction; D014960:X Chromosome
chemical_list: D004247:DNA; D007066:Iduronate Sulfatase