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© 1995 Oxford University Press

OTHER

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

John Loughlin*, Catherine Irven, Lee J. Hardwick1, Sophie Butcher1, Sinead Walsh1, Paul Wordsworth2 and Bryan Sykes

University of Oxford, Department of Cellular Science, Institute of Molecular Medicine 2Nuffield Department of Clinical Medicine, John Radcliffe Hospital Oxford OX3 9DU 1Wellcome Trust Centre for Human Genetics, University of Oxford, Nuffield Department of Clinical Medicine Windmill Road, Oxford OX3 7BN, UK

*To whom correspondence should be addressed

Received May 10, 1995; Accepted June 15, 1995

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 brusing. 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.


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