title: Mutations in the iduronate-2-sulfatase gene in five Norwegians with Hunter syndrome.
abstract: We have identified the mutations in the iduronate-2-sulfatase (IDS) gene of five unrelated Norwegians with Hunter syndrome by reverse transcription-polymerase chain reaction (RT-PCR) analysis of IDS mRNA followed by single strand conformation polymorphism (SSCP) analysis and cDNA sequencing. One patient had a 5-bp deletion, located at the intron 5/exon 6 junction, that created a new alternative splice site. This expanded the deletion to 9 bp in mRNA, an in-frame deletion of the first 3 codons of exon 6 of the IDS gene. In two patients point mutations were identified, the S333L mutation, which has been reported previously, and A346D (a C-->A transversion at nucleotide 1161/exon 8), which is novel. Two patients had large 3' mRNA rearrangements. The A346D mutation was associated with the mild phenotype, all others with the severe form.
authors.affiliation: Department of Medical Genetics, Haukeland Hospital, University of Bergen, Norway.
authors.forename: T C
authors.initials: TC
authors.lastname: Olsen
authors.forename: H G
authors.initials: HG
authors.lastname: Eiken
authors.forename: P M
authors.initials: PM
authors.lastname: Knappskog
authors.forename: B F
authors.initials: BF
authors.lastname: Kase
authors.forename: J E
authors.initials: JE
authors.lastname: Månsson
authors.forename: H
authors.initials: H
authors.lastname: Boman
authors.forename: J
authors.initials: J
authors.lastname: Apold
mesh_terms: D000293:Adolescent; D000328:Adult; D017398:Alternative Splicing; D001483:Base Sequence; D002648:Child; D004252:DNA Mutational Analysis; D018076:DNA, Complementary / Q000235:genetics; D005796:Genes / Q000235:genetics; D006801:Humans; D007066:Iduronate Sulfatase / Q000235:genetics*; D008969:Molecular Sequence Data; D016532:Mucopolysaccharidosis II / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D009664:Norway; D016133:Polymerase Chain Reaction / Q000379:methods; D018807:Polymorphism, Single-Stranded Conformational
chemical_list: D018076:DNA, Complementary; D007066:Iduronate Sulfatase