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Article

Huntington disease-linked locus D4S111 exposed as the alpha-L-iduronidase gene.

Somatic cell and molecular genetics - 1 Jul 1991

MacDonald M E, Scott H S, Whaley W L, Pohl T, Wasmuth J J, Lehrach H, Morris C P, Frischauf A M, Hopwood J J, Gusella J F

Abstract excerpt

alpha-L-Iduronidase (IDUA) has been intensively studied due to its causative role in mucopolysaccharidosis type I (Hurler, Scheie and Hurler/Scheie syndromes). The recent cloning of a human IDUA cDNA has resulted in a reevaluation of the chromosomal location of this gene. Previously assigned to chromosome 22, IDUA now has been localized to 4p16.3, the region of chromosome 4 associated with Huntington's disease...

Topics

Alleles
Animals
Cell Line
Chromosome Mapping
Chromosomes, Human, Pair 4
Cricetinae
Genetic Linkage
Humans
Huntington Disease
Iduronidase
Metaphase

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 1832239
DOI: 10.1007/BF01233067

Genes

IDUA

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1832239-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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Huntington disease-linked locus D4S111 exposed as the alpha-L-iduronidase gene.PMID 1832239Read ↗

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

A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. The Huntington's Disease Collaborative Research Group.Semantic proximity Read ↗

Nonrandom association between Huntington disease and two loci separated by about 3 Mb on 4p16.3.Semantic proximity Read ↗

Mutation c.1190-1delG/N in intron 8 and c.1708G>C/N in exon 12 not reported in the IDUA gene developed a clinical phenotype of Scheie syndrome.Semantic proximity Read ↗

Identification of mutations in the alpha-L-iduronidase gene (IDUA) that cause Hurler and Scheie syndromes.Semantic proximity Read ↗

Dinucleotide repeat polymorphism in the Huntington's disease region at the D4S182 locus.Semantic proximity Read ↗

New DNA markers in the Huntington's disease gene candidate region.Semantic proximity Read ↗

The Wiskott-Aldrich syndrome: refinement of the localization on Xp and identification of another closely linked marker locus, OATL1.Semantic proximity Read ↗

A Huntington disease-like neurodegenerative disorder maps to chromosome 20p.Semantic proximity Read ↗

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

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

Localization of the gene for a novel autosomal recessive neurodegenerative Huntington-like disorder to 4p15.3.Semantic proximity Read ↗

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