Cervical artery dissections and type A aortic dissection in a family with a novel missense COL3A1 mutation of vascular type Ehlers-Danlos syndrome

Eur J Med Genet. 2015 Nov;58(11):634-6. doi: 10.1016/j.ejmg.2015.10.009. Epub 2015 Oct 21.

Abstract

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.

Keywords: COL3A1; Cervical artery dissection; Dissection; Mutation; Vascular type Ehlers–Danlos syndrome.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Aneurysm, Dissecting / diagnosis
  • Aneurysm, Dissecting / genetics*
  • Aortic Aneurysm, Thoracic / diagnosis
  • Aortic Aneurysm, Thoracic / genetics*
  • Collagen Type III / genetics*
  • Ehlers-Danlos Syndrome / diagnosis
  • Ehlers-Danlos Syndrome / genetics*
  • Female
  • Humans
  • Middle Aged
  • Mutation, Missense*
  • Pedigree
  • Young Adult

Substances

  • COL3A1 protein, human
  • Collagen Type III