ArticleHuman genetics1996
Mutations in the iduronate-2-sulfatase gene in five Norwegians with Hunter syndrome.
Article in Human genetics, 1996. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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Who cites it
8 citing papers in PubMed, 11 citations in OpenAlex.
- Genetic Insights and Diagnostic Challenges in Highly Attenuated Lysosomal Storage Disorders.Genes · 2025Review
- Review
- Mutational and structural analysis of Japanese patients with mucopolysaccharidosis type II.Journal of human genetics · 2005Article
- Molecular basis of iduronate-2-sulphatase gene mutations in patients with mucopolysaccharidosis type II (Hunter syndrome).Journal of medical genetics · 1999Article
- Hunter disease in the Spanish population: molecular analysis in 31 families.Journal of inherited metabolic disease · 1998Review
- Mutation analysis in the iduronate-2-sulphatase gene in 43 Japanese patients with mucopolysaccharidosis type II (Hunter disease).Journal of inherited metabolic disease · 1998Article
- Germline and somatic mosaicism in a female carrier of Hunter disease.Journal of medical genetics · 1997Article
- Mucopolysaccharidosis type II (Hunter syndrome): mutation "hot spots" in the iduronate-2-sulfatase gene.American journal of human genetics · 1996Article
Corrections and comments
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Authors and funding
7 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
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.
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