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Article

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

Journal of the Formosan Medical Association = Taiwan yi zhi - 1 Apr 2005

Chou Yen-Yin, Chao Sheau-Chiou, Kuo Pao-Lin, Lin Shio-Jean

Abstract excerpt

Mucopolysaccharidosis type II (Hunter syndrome) is an X-linked lysosomal storage disorder. A novel gross deletion in the iduronate-2-sulfatase (IDS) gene was found in a 6-year-old boy with Hunter syndrome. The phenotype of the patient was severe, including joint stiffness, kyphosis, hepatomegaly, hypertrophic cardiomyopathy, moderate mental retardation, and bilateral hearing loss. The 38.8 kb gross deletion...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 15909065

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

A 38.8 kb deletion mutation of the iduronate-2-sulfatase gene in a patient with Hunter syndrome.PMID 15909065Read ↗

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

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

Genetic analysis of 17 children with Hunter syndrome: identification and functional characterization of four novel mutations in the iduronate-2-sulfatase gene.Semantic proximity Read ↗

Iduronate-2-sulfatase gene mutations in 16 patients with mucopolysaccharidosis type II (Hunter syndrome).Semantic proximity Read ↗

Molecular diagnosis of 65 families with mucopolysaccharidosis type II (Hunter syndrome) characterized by 16 novel mutations in the IDS gene: Genetic, pathological, and structural studies on iduronate-2-sulfatase.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 ↗

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

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

Mutational spectrum of the iduronate-2-sulfatase (IDS) gene in 36 unrelated Russian MPS II patients.Semantic proximity Read ↗

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