Heterozygous carriers of Pseudoxanthoma elasticum were not found among patients with cervical artery dissections

In this study of patients with spontaneous cervical artery dissections (sCAD) we searched for mutations in ABCC6, the candidate gene for Pseudoxanthoma elasticum (PXE). Genomic DNA samples from 12 sCAD patients with pronounced electron microscopic alterations in their dermal connective tissue and fr...

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Bibliographic Details
Published in:Journal of neurology 2003-08, Vol.250 (8), p.983-986
Main Authors: Morcher, Marion, Hausser, Ingrid, Brandt, Tobias, Grond-Ginsbach, Caspar
Format: Article
Language:English
Subjects:
Adult
Aged
Cervical Vertebrae
DNA Mutational Analysis
Exons
Female
Heterozygote
Humans
Male
Middle Aged
Multidrug Resistance-Associated Proteins - genetics
Mutation, Missense
Polymerase Chain Reaction - methods
Polymorphism, Single-Stranded Conformational
Pseudoxanthoma Elasticum - genetics
Sequence Analysis - methods
Vertebral Artery Dissection - genetics
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Summary:In this study of patients with spontaneous cervical artery dissections (sCAD) we searched for mutations in ABCC6, the candidate gene for Pseudoxanthoma elasticum (PXE). Genomic DNA samples from 12 sCAD patients with pronounced electron microscopic alterations in their dermal connective tissue and from 2 patients with PXE were analysed. One patient with PXE was compound heterozygous for two missense point mutations, in the second patient with PXE we did not find changes in the ABCC6 gene. We observed several missense mutations (H623Q, R3190W and R1268Q) in the patients with sCAD, but these mutations were not disease specific,since they were also detected in a series of 25 healthy control subjects.The finding of several sequence variants in sCAD patients and of disease causing mutations in one of the PXE patients suggests that our strategy of mutation search is reliable. Since we did not find disease causing mutations in our series of patients with sCAD we suggest that ABCC6 is not a candidate gene for sCAD.
ISSN:0340-5354
1432-1459
DOI:10.1007/s00415-003-1139-4