Institut für Laboratoriums- und Transfusionsmedizin, Herz- und Diabeteszentrum Nordrhein-Westfalen, Universitätsklinik der Ruhr-Universität Bochum Bad Oeynhausen, Germany.
Front Genet. 2013 Jun 19;4:114. doi: 10.3389/fgene.2013.00114. eCollection 2013.
Screening of the adenosine triphosphate binding cassette transporter protein subfamily C member 6 gene (ABCC6) in pseudoxanthoma elasticum (PXE) revealed a mutation detection rate of approximately 87%. Although 25% of the unidentified disease alleles underlie deletions/insertions, there remain several PXE patients with no clear genotype. The recent identification of PXE-related diseases and the high intra-familiar and inter-individual clinical variability of PXE led to the assumption that secondary genetic co-factors exist. Here, we summarize current knowledge of the genetics underlying PXE and PXE-related disorders based on human and animal studies. Furthermore, we discuss the role of genetic interactions and modifier genes in PXE and PXE-related diseases characterized by soft tissue calcification.
对弹性假黄瘤（PXE）的三磷酸腺苷结合盒转运蛋白超家族 C 成员 6 基因（ABCC6）进行筛查，发现突变检测率约为 87%。尽管 25%的未知疾病等位基因是由缺失/插入引起的，但仍有一些 PXE 患者没有明确的基因型。最近发现的 PXE 相关疾病以及 PXE 的家族内和个体间临床表现的高度变异性，导致人们假设存在继发性遗传协同因子。在这里，我们根据人类和动物研究总结了 PXE 和 PXE 相关疾病的遗传基础的现有知识。此外，我们还讨论了遗传相互作用和修饰基因在 PXE 和 PXE 相关疾病中的作用，这些疾病的特征是软组织钙化。
