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Article

DNA deletion confined to the iduronate-2-sulfatase promoter abolishes IDS gene expression.

Human mutation - 1 Jan 1998

Timms K M, Huckett L E, Belmont J W, Shapira S K, Gibbs R A

Abstract excerpt

Deficiency of the enzyme iduronate-2-sulfatase (IDS) results in Hunter syndrome, an X-linked recessive lysosomal storage disorder. In this study, analysis of a patient with features of moderate to severe Hunter syndrome identified a 178-bp deletion upstream of IDS exon 1 spanning a predicted promoter element. Sequencing of all nine IDS exons from this patient failed to identify any additional mutations within the...

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Source

Identifiers

PMID: 9482575
DOI: 10.1002/(SICI)1098-1004(1998)11:2<121::AID-HUMU4>3.0.CO;2-M

Genes

IDS

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

DNA deletion confined to the iduronate-2-sulfatase promoter abolishes IDS gene expression.PMID 9482575Read ↗

Assessment of iduronate-2-sulfatase mRNA expression in Hunter syndrome (mucopolysaccharidosis type II).Semantic proximity Read ↗

Molecular basis of iduronate-2-sulphatase gene mutations in patients with mucopolysaccharidosis type II (Hunter syndrome)Semantic proximity Read ↗

Identification of 6 new mutations in the iduronate sulfatase gene. Mutation in brief no. 233. Online.Semantic proximity Read ↗

Mutational spectrum of the iduronate 2 sulfatase gene in 25 unrelated Korean Hunter syndrome patients: identification of 13 novel mutations.Semantic proximity Read ↗

Enigmatic in vivo iduronate-2-sulfatase (IDS) mutant transcript correction to wild-type in Hunter syndrome.Semantic proximity Read ↗

A 38.8 kb deletion mutation of the iduronate-2-sulfatase gene in a patient with Hunter syndrome.Semantic proximity Read ↗

Hunter syndrome: isolation of an iduronate-2-sulfatase cDNA clone and analysis of patient DNA.Semantic proximity Read ↗

Mutational spectrum of the iduronate-2-sulfatase gene in Mexican patients with Hunter syndrome.Semantic proximity Read ↗

Evidence for an iduronate-sulfatase pseudogene near the functional Hunter syndrome gene in Xq27.3-q28.Semantic proximity Read ↗

Mutations in the iduronate-2-sulfatase gene in five Norwegians with Hunter syndrome.Semantic proximity Read ↗

Presence of an IDS-related locus (IDS2) in Xq28 complicates the mutational analysis of Hunter syndrome.Semantic proximity Read ↗

Extension of the molecular analysis to the promoter region of the iduronate 2-sulfatase gene reveals genomic alterations in mucopolysaccharidosis type II patients with normal coding sequence.Semantic proximity Read ↗

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