Mutations in the iduronate-2-sulfatase gene in five Norwegians with Hunter syndrome.
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.
Olsen
T C
TC
Department of Medical Genetics, Haukeland Hospital, University of Bergen, Norway.
Eiken
H G
HG
Knappskog
P M
PM
Kase
B F
BF
Månsson
J E
JE
Boman
H
H
Apold
J
J
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
D018076:DNA, Complementary; D007066:Iduronate Sulfatase