Guo Renle, Du Pengcheng, Pei Yifei, Yang Jin, Li Shuangshuang, Chang Sheng, Sun Huiying, He Xiaomin, Dong Jian, Zhou Jian, Jing Zaiping
Department of Vascular Surgery, Changhai Hospital, Naval Military Medical University, Shanghai, China.
Department of Vascular Surgery, Taian Central Hospital, Taian, China.
Front Genet. 2022 Jun 8;13:910932. doi: 10.3389/fgene.2022.910932. eCollection 2022.
Thoracic aortic aneurysms and dissections are precarious conditions that often cannot be diagnosed with fatal outcomes. Over the last few years, pathogenic variants in numerous genes have been identified that predispose to heritable presentations of TAAD. An evidence-based strategy for the selection of genes to test in familial TAAD helps inform family screening and intervention to prevent life-threatening events. Using whole-exome sequencing, four members of three unrelated families clinically diagnosed with TAAD were used to identify the genetic origin of the disorder. Variant evaluation was carried out to detect the pathogenic mutation. Our studies suggest that mutations of and are responsible for familial TAAD. In addition, we highlight , , , and as candidate genes. Future studies of crosstalk among the pathways may provide us a step toward understanding the pathogenic mechanism. This finding indicates the necessity of obtaining family medical history and screening of extended relatives of patients with TAAD for the early identification and treatment of TAAD.
胸主动脉瘤和主动脉夹层是危险的病症，常常无法被诊断出来并导致致命后果。在过去几年中，已鉴定出许多基因中的致病变体，这些变体易导致遗传性胸主动脉瘤合并主动脉夹层（TAAD）。一种基于证据的选择基因进行家族性TAAD检测的策略有助于为家族筛查和干预提供信息，以预防危及生命的事件。利用全外显子测序，对临床上诊断为TAAD的三个无关家族的四名成员进行检测，以确定该疾病的遗传起源。进行变体评估以检测致病突变。我们的研究表明，[基因名称1]和[基因名称2]的突变是家族性TAAD的病因。此外，我们强调[基因名称3]、[基因名称4]、[基因名称5]、[基因名称6]和[基因名称7]作为候选基因。未来对这些途径之间相互作用的研究可能会让我们朝着了解致病机制迈进一步。这一发现表明有必要获取家族病史并对TAAD患者的近亲进行筛查，以便早期识别和治疗TAAD。
