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Article

Mutations in the COL5A1 gene are causal in the Ehlers-Danlos syndromes I and II.

American journal of human genetics - 1 Mar 1997

De Paepe A, Nuytinck L, Hausser I, Anton-Lamprecht I, Naeyaert J M

Abstract excerpt

The Ehlers-Danlos syndrome (EDS) is a heterogeneous connective-tissue disorder of which at least nine subtypes are recognized. Considerable clinical overlap exists between the EDS I and II subtypes, suggesting that both are allelic disorders. Recent evidence based on linkage and transgenic mice studies suggest that collagen V is causally involved in human EDS. Collagen V forms heterotypic fibrils with collagen I...

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Identifiers

PMID: 9042913
PMCID: PMC1712501

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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Related research

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Research trail→

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Mutations in the COL5A1 gene are causal in the Ehlers-Danlos syndromes I and II.PMID 9042913Read ↗

An exon skipping mutation of a type V collagen gene (COL5A1) in Ehlers-Danlos syndrome.Semantic proximity Read ↗

Comprehensive molecular analysis demonstrates type V collagen mutations in over 90% of patients with classic EDS and allows to refine diagnostic criteria.Semantic proximity Read ↗

A splice-junction mutation in the region of COL5A1 that codes for the carboxyl propeptide of pro alpha 1(V) chains results in the gravis form of the Ehlers-Danlos syndrome (type I).Semantic proximity Read ↗

A translocation interrupts the COL5A1 gene in a patient with Ehlers-Danlos syndrome and hypomelanosis of Ito.Semantic proximity Read ↗

Mutations of the alpha2(V) chain of type V collagen impair matrix assembly and produce ehlers-danlos syndrome type I.Semantic proximity Read ↗

Clinical Variability of Classical Ehlers-Danlos Syndrome: A Family with Rare COL5A1 Variant and Case-Based Review.Semantic proximity Read ↗

Identification of two independent <i>COL5A1</i> variants in dogs with Ehlers Danlos syndromeSemantic proximity Read ↗

COL5A1 haploinsufficiency is a common molecular mechanism underlying the classical form of EDS.Semantic proximity Read ↗

Murine model of the Ehlers-Danlos syndrome. col5a1 haploinsufficiency disrupts collagen fibril assembly at multiple stages.Semantic proximity Read ↗

Genetic linkage to the collagen alpha 1 (V) gene (COL5A1) in two British Ehlers-Danlos syndrome families with variable type I and II phenotypes.Semantic proximity Read ↗

The Ehlers-Danlos syndrome.Semantic proximity Read ↗

Structural in silico dissection of the collagen V interactome to identify genotype-phenotype correlations in classic Ehlers-Danlos Syndrome (EDS).Semantic proximity Read ↗

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