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Linkage of the gene that encodes the alpha 1 chain of type V collagen (COL5A1) to type II Ehlers-Danlos syndrome (EDS II)

Lookup NU author(s): Professor John LoughlinORCiD

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Abstract

Ehlers-Danlos syndrome (EDS) is a group of heritable disorders of connective tissue with skin, ligaments and blood vessels being the main sites affected. The commonest variant (EDS II) exhibits an autosomal dominant mode of inheritance and is characterized by joint hypermobility, cigarette paper scars, lax skin and excessive bruising. As yet no gene has been linked to EDS II, nor has linkage been established to a specific region of the genome. However, several candidate genes encoding proteins of the extracellular matrix have been excluded. Using an intragenic simple sequence repeat polymorphism, we report linkage of the COL5A1 gene, which encodes the alpha 1(V) chain of type V collagen, to EDS II. A maximum LOD score (Zmax) for linkage of 8.3 at theta = 0.00 was generated for a single large pedigree.

Publication metadata

Author(s): Loughlin J, Irven C, Hardwick LJ, Butcher S, Walsh S, Wordsworth P, Sykes B

Publication type: Article

Publication status: Published

Journal: Human Molecular Genetics

Year: 1995

Volume: 4

Issue: 9

Pages: 1649-51

Print publication date: 01/09/1995

ISSN (print): 0964-6906

Publisher: Oxford University Press

URL: https://doi.org/10.1093/hmg/4.9.1649

DOI: 10.1093/hmg/4.9.1649

Notes: Journal Article Research Support, Non-U.S. Gov't England

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