title: Genetic linkage to the collagen alpha 1 (V) gene (COL5A1) in two British Ehlers-Danlos syndrome families with variable type I and II phenotypes.
abstract: To investigate the role of COL5A1 as a candidate gene for Ehlers-Danlos syndrome (EDS), we have carried out linkage studies in two large British families with EDS type I/II and type II, respectively. Fourteen living, affected individuals were identified by family history, clinical examination and ultrastructural analysis. A polymorphic intragenic simple sequence repeat at the COL5A1 locus showed linkage to EDS without recombination to give a combined lod score of 5.7. We have previously reported linkage to COL5A1 in an EDS type I/II family which brings the total lod score to 9.8 at zero recombination. Taken together, these data implicate COL5A1 as an important cause of EDS and confirm that types I and II are allelic.
authors.affiliation: MRC Connective Tissue Genetics Group, Strangeways Research Laboratory, Cambridge, UK.
authors.forename: N P
authors.initials: NP
authors.lastname: Burrows
authors.forename: A C
authors.initials: AC
authors.lastname: Nicholls
authors.forename: J R
authors.initials: JR
authors.lastname: Yates
authors.forename: A J
authors.initials: AJ
authors.lastname: Richards
authors.forename: F M
authors.initials: FM
authors.lastname: Pope
mesh_terms: D003094:Collagen / Q000235:genetics*; D004535:Ehlers-Danlos Syndrome / Q000235:genetics*; D005260:Female; D008040:Genetic Linkage / Q000235:genetics*; D006801:Humans; D008297:Male; D010375:Pedigree; D010641:Phenotype
chemical_list: D003094:Collagen