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Article

An Alu-mediated rearrangement as cause of exon skipping in Hunter disease.

Human genetics - 1 Apr 2003

Ricci Verena, Regis Stefano, Di Duca Marco, Filocamo Mirella

Abstract excerpt

Hunter syndrome (Mucopolysaccharidosis type II), a rare X-linked lysosomal storage disorder, results from deleterious mutations in the iduronate-2-sulfatase ( IDS) gene located on Xq27.3-q28. Partial or complete deletions and large rearrangements have been extensively reported in the IDS gene as the basis of Hunter disease. The present report, however, is the first report on a Hunter patient in which Alu-mediated...

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Identifiers

PMID: 12579417
DOI: 10.1007/s00439-002-0900-6

Genes

IDS

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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

An Alu-mediated rearrangement as cause of exon skipping in Hunter disease.PMID 12579417Read ↗

Hunter disease in the Spanish population: molecular analysis in 31 families.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 ↗

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

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 Mexican patients with Hunter syndrome.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 ↗

Expression studies of two novel in CIS-mutations identified in an intermediate case of Hunter syndrome.Semantic proximity Read ↗

Mucopolysaccharidosis type II (Hunter syndrome): mutation "hot spots" in the iduronate-2-sulfatase gene.Semantic proximity Read ↗

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

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

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

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