Cervical artery dissections and type A aortic dissection in a family with a novel missense COL3A1 mutation of vascular type Ehlerse-Danlos syndrome
Faculty of Medicine and Health Sciences
European journal of medical genetics. - Paris
, p. 634-636
University of Antwerp
Cervical artery dissection (CeAD) is a rare condition. One of the causes is the vascular type of Ehlers-Danlos syndrome (vEDS). A novel missense mutation in COL3A1 was found in a young patient with CeAD as the single manifestation of vEDS. This is a heterozygous c.953G > A mutation in exon 14, disrupting the normal Gly-X-Y repeats of type III procollagen, by converting glycine to aspartic acid. (C) 2015 Elsevier Masson SAS. All rights reserved.