Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

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Grond-Ginsbach, C. et al.

Mutations in the COL5A1 coding sequence are not common in patients with spontaneous cervical artery dissections.

BACKGROUND AND PURPOSE: 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.[1]

References

Mutations in the COL5A1 coding sequence are not common in patients with spontaneous cervical artery dissections. Grond-Ginsbach, C., Weber, R., Haas, J., Orberk, E., Kunz, S., Busse, O., Hausser, I., Brandt, T., Wildemann, B. Stroke (1999) [Pubmed]

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