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


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

1996-02

AUTHORS

Tord C. Olsen, Hans G. Eiken, Per M. Knappskog, Bengt F. Kase, Jan-Eric Månsson, Helge Boman, Jaran pold

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 by 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. More... »

PAGES

198-203

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/bf02265265

DOI

http://dx.doi.org/10.1007/bf02265265

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1008683620

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/8566953


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