PDF(Pubmed)
Abstract：
Thoracic aortic aneurysms are clinical conditions that are associated with severe clinical endpoints including dissection and rupture, potentially leading to sudden death. Contrary to their abdominal counterparts, thoracic aortic aneurysms are well-recognized to have a genetic basis underlying their development. Among all patients with aneurysmal disease who underwent clinical genetic screening in our program (N = 145), two patients were found to have variants of uncertain significance (VUS) in the PRDM5 gene. This gene is responsible for multiple regulatory functions in extracellular matrix development, and this is the first report, to our knowledge, to associate this gene with aortopathy.
摘要：
胸主动脉瘤是与包括夹层和破裂在内的严重临床终点相关的临床状况。有可能导致猝死.与他们的腹部对应物相反，胸主动脉瘤被公认为具有遗传基础。在我们计划中接受临床遗传筛查的所有动脉瘤疾病患者中（N=145），发现两名患者在PRDM5基因中具有不确定显著性变异(VUS).该基因负责细胞外基质发育中的多种调节功能，这是第一份报告，根据我们的知识，把这个基因和主动脉病联系起来.
