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...
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| Autores principales: | , , , , , , , , |
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| Formato: | Article (Journal) |
| Lenguaje: | inglés |
| Publicado: |
September 1, 1999
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| In: |
Stroke
Year: 1999, Volumen: 30, Número: 9, Pages: 1887-1890 |
| ISSN: | 1524-4628 |
| DOI: | 10.1161/01.STR.30.9.1887 |
| Acceso en línea: | Verlag, lizenzpflichtig, Volltext: https://doi.org/10.1161/01.STR.30.9.1887 Verlag, lizenzpflichtig, Volltext: https://www.ahajournals.org/doi/10.1161/01.STR.30.9.1887 
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| Notas de Autor: | Caspar Grond-Ginsbach, Ralf Weber, Juergen Haas, Erdem Orberk, Stefanie Kunz, Otto Busse, Ingrid Hausser, Tobias Brandt, Brigitte Wildemann |
| Sumario: | 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. |
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| Notas: | Gesehen am 12.04.2021 |
| Descripción Física: | Online Resource |
| ISSN: | 1524-4628 |
| DOI: | 10.1161/01.STR.30.9.1887 |