Mutations in the iduronate-2-sulfatase gene in five Norwegians with Hunter syndrome

Hum Genet. 1996 Feb;97(2):198-203. doi: 10.1007/BF02265265.


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.

MeSH terms

  • Adolescent
  • Adult
  • Alternative Splicing
  • Base Sequence
  • Child
  • DNA Mutational Analysis
  • DNA, Complementary / genetics
  • Genes / genetics
  • Humans
  • Iduronate Sulfatase / genetics*
  • Molecular Sequence Data
  • Mucopolysaccharidosis II / genetics*
  • Mutation / genetics*
  • Norway
  • Polymerase Chain Reaction / methods
  • Polymorphism, Single-Stranded Conformational


  • DNA, Complementary
  • Iduronate Sulfatase