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Article

Molecular and phenotypic variation in patients with severe Hunter syndrome.

Human molecular genetics - 1 Mar 1997

Timms K M, Bondeson M L, Ansari-Lari M A, Lagerstedt K, Muzny D M, Dugan-Rocha S P, Nelson D L, Pettersson U, Gibbs R A

Abstract excerpt

Severe Hunter syndrome is a fatal X-linked lysosomal storage disorder caused by iduronate-2-sulphatase (IDS) deficiency. Patients with complete deletion of the IDS locus often have atypical phenotypes including ptosis, obstructive sleep apnoea, and the occurrence of seizures. We have used genomic DNA sequencing to identify several new genes in the IDS region. DNA deletion patients with atypical symptoms have been...

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

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Source

Identifiers

PMID: 9147653
DOI: 10.1093/hmg/6.3.479

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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Molecular and phenotypic variation in patients with severe Hunter syndrome.PMID 9147653Read ↗

Subtle Cellular Phenotypes Inform Pathological and Benign Genetic Mutants in the Iduronidase-2 Sulfatase GeneSemantic proximity Read ↗

Diverse clinical outcome of Hunter syndrome in patients with chromosomal aberration encompassing entire and partial IDS deletions: what is important for early diagnosis and counseling?Semantic proximity Read ↗

The clinical phenotype of two patients with a complete deletion of the iduronate-2-sulphatase gene (mucopolysaccharidosis II--Hunter syndrome).Semantic proximity Read ↗

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

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

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

Wide allelic heterogeneity with predominance of large IDS gene complex rearrangements in a sample of Mexican patients with Hunter syndrome.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 ↗

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

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

Subtle cellular phenotypes inform pathological and benign genetic mutants in the Iduronate-2 sulfatase gene.Semantic proximity Read ↗

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