1. Mutations in the iduronate-2-sulfatase gene in five Norwegians with Hunter syndrome
- Author
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Olsen Tc, Jaran Apold, Kase Bf, Per M. Knappskog, Hans Geir Eiken, Helge Boman, and Jan-Eric Månsson
- Subjects
Adult ,DNA, Complementary ,Adolescent ,DNA Mutational Analysis ,Molecular Sequence Data ,Iduronate Sulfatase ,Biology ,medicine.disease_cause ,Polymerase Chain Reaction ,Exon ,Genetics ,medicine ,Humans ,Child ,Transversion ,Gene ,Polymorphism, Single-Stranded Conformational ,Genetics (clinical) ,Mucopolysaccharidosis II ,Mutation ,Splice site mutation ,Base Sequence ,Norway ,Point mutation ,Iduronate-2-sulfatase ,Single-strand conformation polymorphism ,Molecular biology ,Alternative Splicing ,Genes - 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.
- Published
- 1996
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