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(Stroke. 1999;30:1887-1890.)
© 1999 American Heart Association, Inc.

Original Contributions

Mutations in the COL5A1 Coding Sequence Are Not Common in Patients With Spontaneous Cervical Artery Dissections

Caspar Grond-Ginsbach, PhD; Ralf Weber, MD; Juergen Haas, PhD; Erdem Orberk, MD; Stefanie Kunz, MD; Otto Busse, MD; Ingrid Hausser, PhD; Tobias Brandt, MD Brigitte Wildemann, MD

From the Departments of Neurology (C.G.-G., R.W., J.H., E.O., T.B., B.W.) and Dermatology (I.H.), University of Heidelberg, Germany; and the Department of Neurology (S.K., O.B.), City Hospital, Minden, Germany.

Correspondence and reprint requests to PD Dr med Brigitte Wildemann, Neurologische Universitätsklinik, Im Neuenheimer Feld 400, 69120 Heidelberg, Germany. E-mail brigitte wildemann{at}med.uni-heidelberg.dewildemann@med.uni-heidelberg.de

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.

Key Words: connective tissue disorders • dissection • genetics • mutation

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