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

Human molecular genetics - 23 Feb 2026

Viswanathan Anushka, Elia Serena, Le Steven Q, Hurt Sarah, Doray Balraj, Waligorski Jason, Kelley Kylan, Buchser William, Dickson Patricia

Abstract excerpt

Molecular genetic testing is increasingly used in clinical care to identify genetic variants and their impact on disease burden. However, variants of uncertain significance (VUS) hamper the utility of molecular diagnostic testing. In patients presenting with Hunter Syndrome and VUS in the IDS gene, clinical testing for iduronate-2-sulfatase enzyme activity has been the mainstay to determine whether a variant is...

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

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Identifiers

PMID: 41818734
DOI: 10.1093/hmg/ddag014
PMCID: PMC13007721

Genes

IDS

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 23 Oct 2026.

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Subtle cellular phenotypes inform pathological and benign genetic mutants in the Iduronate-2 sulfatase gene.PMID 41818734Read ↗

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

Effect of Hunter disease (mucopolysaccharidosis type II) mutations on molecular phenotypes of iduronate-2-sulfatase: enzymatic activity, protein processing and structural analysis.Semantic proximity Read ↗

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

Insights into Hunter syndrome from the structure of iduronate-2-sulfatase.Semantic proximity Read ↗

[Clinical phenotype, genetic characteristics, and creation of immortalized cell lines for patients from a pedigree affected with Hunter syndrome].Semantic proximity Read ↗

Molecular and phenotypic variation in patients with severe Hunter syndrome.Semantic proximity Read ↗

In vitro recapitulation of the site-specific editing (to wild-type) of mutant IDS mRNA transcripts, and the characterization of IDS protein translated from the edited mRNAs.Semantic proximity Read ↗

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

Identification and Functional Characterization of IDS Gene Mutations Underlying Taiwanese Hunter Syndrome (Mucopolysaccharidosis Type II)Semantic proximity Read ↗

Endoplasmic Reticulum and Lysosomal Quality Control of Four Nonsense Mutants of Iduronate 2-Sulfatase Linked to Hunter's Syndrome.Semantic proximity Read ↗

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