Sequence analysis of the COL5A2 gene in patients with spontaneous cervical artery dissections.
The authors searched for mutations in the gene that codes for the alpha2 chain of type V procollagen in 10 patients with spontaneous cervical artery dissections (sCAD). Two patients carried a missense mutation affecting the predicted C-propeptide (T1227S; D1429V). A third patient carried two mutations (V509A and P830L) in the same alpha2(V) chain. The T1227S mutation and the V509A/P830L haplotype also were detected among 50 healthy subjects. The D1429V substitution was detected neither in a series of 150 healthy control subjects nor among 50 additional patients with sCAD.
Grond-Ginsbach
C
C
Department of Neurology, University of Heidelberg, Germany. Caspar Grond-Ginsbach@med.uni-heidelberg.de
Wigger
F
F
Morcher
M
M
von Pein
F
F
Grau
A
A
Hausser
I
I
Brandt
T
T
D000595:Amino Acid Sequence; D000818:Animals; D024062:Collagen Type V / Q000235:genetics*; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics; D018807:Polymorphism, Single-Stranded Conformational; D011347:Procollagen / Q000235:genetics*; D051381:Rats; D017422:Sequence Analysis, DNA / Q000379:methods / Q000706:statistics & numerical data; D020217:Vertebral Artery Dissection / Q000235:genetics*
D024062:Collagen Type V; D011347:Procollagen