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Article

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).

American journal of human genetics - 1 Jun 2000

Schwarze U, Atkinson M, Hoffman G G, Greenspan D S, Byers P H

Abstract excerpt

Ehlers-Danlos syndrome (EDS) types I and II, which comprise the classical variety, are well characterized from the clinical perspective, but it has been difficult to identify the molecular basis of the disorder in the majority of affected individuals. Several explanations for this failure to detect mutations have been proposed, including genetic heterogeneity, failure of allele expression, and technical...

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Identifiers

PMID: 10796876
DOI: 10.1086/302933
PMCID: PMC1378060

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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).PMID 10796876Read ↗

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

COL5A1 exon 14 splice acceptor mutation causes a functional null allele, haploinsufficiency of alpha 1(V) and abnormal heterotypic interstitial fibrils in Ehlers-Danlos syndrome II.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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Mutations in the COL5A1 gene are causal in the Ehlers-Danlos syndromes I and II.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 ↗

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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 ↗

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