Article
Comprehensive molecular analysis demonstrates type V collagen mutations in over 90% of patients with classic EDS and allows to refine diagnostic criteria.
Human mutation - 1 Oct 2012
Symoens Sofie, Syx Delfien, Malfait Fransiska, Callewaert Bert, De Backer Julie, Vanakker Olivier, Coucke Paul, De Paepe Anne
Abstract excerpt
Type V collagen mutations are associated with classic Ehlers-Danlos Syndrome (EDS), but it is unknown for which proportion they account and to what extent other genes are involved. We analyzed COL5A1 and COL5A2 in 126 patients with a diagnosis or suspicion of classic EDS. In 93 patients, a type V collagen defect was found, of which 73 were COL5A1 mutations, 13 were COL5A2 mutations and seven were COL5A1...
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