Article
Atypical COL3A1 variants (glutamic acid to lysine) cause vascular Ehlers-Danlos syndrome with a consistent phenotype of tissue fragility and skin hyperextensibility.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Sept 2019
Ghali Neeti, Baker Duncan, Brady Angela F, Burrows Nigel, Cervi Elena, Cilliers Deirdre, Frank Michael, Germain Dominique P, Hulmes David J S, Jacquemont Marie-Line, Kannu Peter, Lefroy Henrietta, Legrand Anne, Pope F Michael, Robertson Lisa, Vandersteen Anthony, von Klemperer Kate, Warburton Renarta, Whiteford Margo, van Dijk Fleur S
Abstract excerpt
PURPOSE: The Ehlers-Danlos syndromes (EDS) are a group of rare inherited connective tissue disorders. Vascular EDS (vEDS) is caused by pathogenic variants in COL3A1, most frequently glycine substitutions. We describe the phenotype of the largest series of vEDS patients with glutamic acid to lysine substitutions (Glu>Lys) in COL3A1, which were all previously considered to be variants of unknown significance....
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