病例报告：一个患有血管疾病的家族中该基因的杂合功能丧失变异。
Case Report: A heterozygous loss-of-function variant of the gene in a family with vascular pathologies.
作者信息
Erhart Philipp, Dikow Nicola, Schwaibold Eva M C, Dihlmann Susanne, Grond-Ginsbach Caspar, Körfer Daniel, Schaaf Christian P, Oeser Sabrina, Hinderhofer Katrin, Böckler Dittmar, Zerella Jiarna R, Scott Hamish S, Hahn Christopher N, Marbach Felix
机构信息
Department of Vascular and Endovascular Surgery, University Hospital Heidelberg, Heidelberg, Germany.
Institute of Human Genetics, Heidelberg University, Heidelberg, Germany.
出版信息
Front Cardiovasc Med. 2025 Jun 24;12:1550523. doi: 10.3389/fcvm.2025.1550523. eCollection 2025.
BACKGROUND
The transcription factor (erythroblast transformation-specific-related gene) has been identified as a key regulator of vascular function by suppressing inflammation in endothelial cells (ECs). Dysregulation of due to genetic risk variants is linked to chronic inflammation in conditions such as atherosclerosis and aortic aneurysms.
CASE PRESENTATION
This research work investigates the role of the gene in the development of a systemic arterial aneurysm manifestation. Given the previous implication of in vascular development, we now report a loss-of-function variant (Leu212*) in the gene, segregating in a family with vascular pathologies. Multiple arterial aneurysms were observed in one family member, and early onset of vascular-associated stroke in another individual carrying the familial variant. Histological analysis of arterial aneurysm specimen showed comparable expression of ERG in endothelial cells of the vasa vasorum in samples from the patient and controls.
CONCLUSION
Our report discusses the possibility that loss-of-function variants in may act as a risk factor for arterial disease.
背景
转录因子（成红细胞转化特异性相关基因）已被确定为通过抑制内皮细胞（ECs）炎症来调节血管功能的关键因子。由于遗传风险变异导致的该因子失调与动脉粥样硬化和主动脉瘤等疾病中的慢性炎症有关。
病例报告
本研究工作调查了该基因在系统性动脉瘤表现发展中的作用。鉴于该基因先前在血管发育中的作用，我们现在报告该基因中的一个功能丧失变异（Leu212*），它在一个有血管病变的家族中分离。在一名家族成员中观察到多个动脉瘤，而在另一名携带家族性该基因变异的个体中出现了与血管相关的中风早发情况。对动脉瘤标本的组织学分析显示，患者和对照样本中血管滋养层内皮细胞中ERG的表达相当。
结论
我们的报告讨论了该基因功能丧失变异可能作为动脉疾病危险因素的可能性。
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