Morcher Marion, Hausser Ingrid, Brandt Tobias, Grond-Ginsbach Caspar
Department of Neurology, University of Heidelberg, Im Neuenheimer Feld 400, 69120 Heidelberg, Germany.
J Neurol. 2003 Aug;250(8):983-6. doi: 10.1007/s00415-003-1139-4.
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.
在这项针对自发性颈内动脉夹层（sCAD）患者的研究中，我们寻找了弹性假黄瘤（PXE）的候选基因ABCC6中的突变。分析了12例皮肤结缔组织有明显电子显微镜改变的sCAD患者以及2例PXE患者的基因组DNA样本。1例PXE患者为两个错义点突变的复合杂合子，在第2例PXE患者中，我们未发现ABCC6基因有变化。我们在sCAD患者中观察到了几个错义突变（H623Q、R3190W和R1268Q），但这些突变并非疾病特异性的，因为在25名健康对照者中也检测到了这些突变。在sCAD患者中发现了几个序列变异，在1例PXE患者中发现了致病突变，这表明我们的突变搜索策略是可靠的。由于在我们的sCAD患者系列中未发现致病突变，我们认为ABCC6不是sCAD的候选基因。
