Cervical artery dissections and type A aortic dissection in a family with a novel missense COL3A1 mutation of vascular type Ehlers-Danlos syndrome.
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.
Department of Cardiovascular Surgery, University Hospital of Liège, Liège, Belgium; Department of Surgery, Surgical Research Center (CREDEC), GIGA Cardiovascular Sciences, University of Liège, Liège, Belgium. Electronic address: gmakrygiannis@ulg.ac.be.
Georgios
G
Makrygiannis
Center for Medical Genetics, Faculty of Medicine and Health Sciences, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium.
Bart
B
Loeys
Department of Cardiovascular Surgery, University Hospital of Liège, Liège, Belgium; Department of Surgery, Surgical Research Center (CREDEC), GIGA Cardiovascular Sciences, University of Liège, Liège, Belgium.
Jean-Olivier
JO
Defraigne
Department of Cardiovascular Surgery, University Hospital of Liège, Liège, Belgium; Department of Surgery, Surgical Research Center (CREDEC), GIGA Cardiovascular Sciences, University of Liège, Liège, Belgium.
Natzi
N
Sakalihasan
D000784:Aortic Dissection / Q000175:diagnosis / Q000235:genetics*; D017545:Aortic Aneurysm, Thoracic / Q000175:diagnosis / Q000235:genetics*; D024061:Collagen Type III / Q000235:genetics*; D004535:Ehlers-Danlos Syndrome / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D006801:Humans; D008875:Middle Aged; D020125:Mutation, Missense; D010375:Pedigree; D055815:Young Adult
C439971:COL3A1 protein, human; D024061:Collagen Type III
COL3A1; Cervical artery dissection; Dissection; Mutation; Vascular type Ehlers–Danlos syndrome