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Article

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

Journal of medical genetics - 1 Nov 1996

Nicholls A C, Oliver J E, McCarron S, Harrison J B, Greenspan D S, Pope F M

Abstract excerpt

The Ehlers-Danlos syndrome (EDS) is a heterogeneous group of inherited connective tissue disorders characterised by skin hyperextensibility, joint hypermobility, easy bruising, and cutaneous fragility. Nine discrete clinical subtypes have been classified. We have investigated the molecular defect in a patient with clinical features of Ehlers-Danlos syndromes types I/II and VII. Electron microscopy of skin tissue...

Topics

Adult
Body Height
Collagen
DNA, Complementary
Ehlers-Danlos Syndrome
Electrophoresis, Polyacrylamide Gel
Exons
Female
Humans
Microscopy, Electron
Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Pregnancy

Proteins

Scoliosis

Skin

Source

Open in PubMed Open full text

Identifiers

PMID: 8950675
DOI: 10.1136/jmg.33.11.940
PMCID: PMC1050789

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Click a neighbor to travelStep 1 · 12 closest

An exon skipping mutation of a type V collagen gene (COL5A1) in Ehlers-Danlos syndrome.PMID 8950675Read ↗

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

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

A single base mutation in COL5A2 causes Ehlers-Danlos syndrome type 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 ↗

A novel splice variant in the N-propeptide of COL5A1 causes an EDS phenotype with severe kyphoscoliosis and eye involvement.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 ↗

Clinical and molecular characterization of 40 patients with classic Ehlers-Danlos syndrome: identification of 18 COL5A1 and 2 COL5A2 novel mutations.Semantic proximity Read ↗

Homozygous Gly530Ser substitution in <i>COL5A1</i> causes mild classical Ehlers‐Danlos syndromeSemantic proximity Read ↗

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

The Ehlers-Danlos syndrome, a disorder with many faces.Semantic proximity Read ↗

Molecular genetics in classic Ehlers-Danlos syndrome.Semantic proximity Read ↗

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