title: Mutations in the COL5A1 coding sequence are not common in patients with spontaneous cervical artery dissections.
abstract: OBJECTIVE
  The dermal connective tissue of most patients with spontaneous cervical artery dissections (sCAD) contains abnormal collagen fibers. This suggests a predisposing connective tissue defect. The ultrastructural abnormalities in the skin of patients with sCAD have similarity with the morphological alterations in patients with Ehlers-Danlos syndrome type II, a dominant hereditary disorder that has been correlated in some patients to mutations within the genes encoding type V collagen. The aim of this study was to assess the alpha 1 chain of type V collagen (COL5A1) as a candidate gene for sCAD.
  
  
  METHODS
  We searched for mutations in the COL5A1 gene in cDNA from cultured fibroblasts of 19 patients with sCAD using single-strand conformational polymorphism analysis and nucleotide sequence analysis of polymerase chain reaction-amplified fragments of the whole COL5A1 coding sequence.
  
  
  RESULTS
  We detected 1 missense mutation leading to a predicted amino acid (192D/N) substitution within the N-terminal propeptide in 2 siblings. All other patients showed regular COL5A1 sequences with some silent polymorphisms.
  
  
  CONCLUSIONS
  Mutations in the COL5A1 gene do not appear to be a major factor in the etiology of sCAD.
authors.affiliation: Department of Neurology, University of Heidelberg, Germany.
authors.forename: C
authors.initials: C
authors.lastname: Grond-Ginsbach
authors.forename: R
authors.initials: R
authors.lastname: Weber
authors.forename: J
authors.initials: J
authors.lastname: Haas
authors.forename: E
authors.initials: E
authors.lastname: Orberk
authors.forename: S
authors.initials: S
authors.lastname: Kunz
authors.forename: O
authors.initials: O
authors.lastname: Busse
authors.forename: I
authors.initials: I
authors.lastname: Hausser
authors.forename: T
authors.initials: T
authors.lastname: Brandt
authors.forename: B
authors.initials: B
authors.lastname: Wildemann
mesh_terms: D000328:Adult; D000483:Alleles; D000595:Amino Acid Sequence / Q000235:genetics; D000784:Aortic Dissection / Q000235:genetics*; D003094:Collagen / Q000235:genetics*; D005260:Female; D006579:Heterozygote; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics*; D009333:Neck / Q000098:blood supply*; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D020033:Protein Isoforms / Q000235:genetics
chemical_list: D020033:Protein Isoforms; D003094:Collagen