C. Grond-ginsbach et al., Mutations in the COL5A1 coding sequence are not common in patients with spontaneous cervical artery dissections, STROKE, 30(9), 1999, pp. 1887-1890
Background and Purpose-The dermal connective tissue of most patients with s
pontaneous cervical artery dissections (sCAD) contains abnormal collagen fi
bers. This suggests a predisposing connective tissue defect. The ultrastruc
tural 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 patient
s to mutations within the genes encoding type V collagen. The aim of this s
tudy was to assess the alpha 1 chain of type V collagen (COL5A1) as a candi
date 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 pol
ymorphism analysis and nucleotide sequence analysis of polymerase chain rea
ction-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 ot
her 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.