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Article

COL5A1 haploinsufficiency is a common molecular mechanism underlying the classical form of EDS.

American journal of human genetics - 1 Jun 2000

Wenstrup R J, Florer J B, Willing M C, Giunta C, Steinmann B, Young F, Susic M, Cole W G

Abstract excerpt

We have identified haploinsufficiency of the COL5A1 gene that encodes the proalpha1(V) chain of type V collagen in the classical form of the Ehlers-Danlos syndrome (EDS), a heritable connective-tissue disorder that severely alters the collagen-fibrillar structure of the dermis, joints, eyes, and blood vessels. Eight of 28 probands with classical EDS who were heterozygous for expressed polymorphisms in COL5A1...

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Identifiers

PMID: 10777716
DOI: 10.1086/302930
PMCID: PMC1378044

Genes

CGA

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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.

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COL5A1 haploinsufficiency is a common molecular mechanism underlying the classical form of EDS.PMID 10777716Read ↗

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Molecular mechanisms of classical Ehlers-Danlos syndrome (EDS).Semantic proximity Read ↗

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

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Null alleles of the COL5A1 gene of type V collagen are a cause of the classical forms of Ehlers-Danlos syndrome (types I and II).Semantic proximity Read ↗

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