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Article

IDS gene-pseudogene exchange responsible for an intragenic deletion in a Hunter patient.

Human mutation - 1 Jan 1996

Birot A M, Bouton O, Froissart R, Maire I, Bozon D

Abstract excerpt

Hunter disease or mucopolysaccharidosis type II is an X-linked disease caused by the deficiency of the lysosomal enzyme iduronate-2-sulfatase (IDS). The IDS gene (24 kb) contains nine exons and has been completely sequenced. A pseudogene (IDS-2 locus) distal to the functional IDS gene has recently been identified. This work reports the characterization of IDS gene alterations in two severely affected patients....

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Source

Identifiers

PMID: 8807335
DOI: 10.1002/(SICI)1098-1004(1996)8:1<44::AID-HUMU6>3.0.CO;2-P

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

IDS gene-pseudogene exchange responsible for an intragenic deletion in a Hunter patient.PMID 8807335Read ↗

Homologous nonallelic recombinations between the iduronate-sulfatase gene and pseudogene cause various intragenic deletions and inversions in patients with mucopolysaccharidosis type II.Semantic proximity Read ↗

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

Characterization of iduronate-2-sulfatase gene-pseudogene recombinations in eight patients with Mucopolysaccharidosis type II revealed by a rapid PCR-based methodSemantic proximity Read ↗

An Alu-mediated rearrangement as cause of exon skipping in Hunter disease.Semantic proximity Read ↗

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

Identification of 9 novel IDS gene mutations in 19 unrelated Hunter syndrome (mucopolysaccharidosis Type II) patients. Mutations in brief no. 202. Online.Semantic proximity Read ↗

Molecular basis of mucopolysaccharidosis type II (Hunter syndrome): first review and classification of published IDS gene variants.Semantic proximity Read ↗

Analysis of the IDS Gene in 38 Patients with Hunter Syndrome: The c.879G>A (p.Gln293Gln) Synonymous Variation in a Female Create Exonic SplicingSemantic proximity Read ↗

Novel type of genetic rearrangement in the iduronate-2-sulfatase (IDS) gene involving deletion, duplications, and inversions.Semantic proximity Read ↗

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

Severe phenotype in MPS II patients associated with a large deletion including contiguous genes.Semantic proximity Read ↗

Molecular analysis of patients with Hunter syndrome: implication of a region prone to structural alterations within the IDS gene.Semantic proximity Read ↗

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