Coexistence of Hereditary Hemorrhagic Telangiectasia and Moyamoya Disease: A Case Report Highlighting a Potential Genetic Synergy.

IF 2.6 Q2 GENETICS & HEREDITY
Application of Clinical Genetics Pub Date : 2025-07-10 eCollection Date: 2025-01-01 DOI:10.2147/TACG.S536913
Shengyang Liu, Linghui Meng, YuZhu Wan, Shanfeng Liu, Li Shi
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引用次数: 0

Abstract

Hereditary hemorrhagic telangiectasia (HHT) coexisting with moyamoya disease (MMD) is exceptionally rare. We report the first case of a 45-year-old female harboring two genetic variants implicated in vascular disease: a pathogenic mutation in ACVRL1 (c.1231C>T, p.Arg411Trp) and a novel variant of uncertain significance in RNF213 (c.13685C>T, p.Pro4562Leu). This case is remarkable for the concurrent manifestation of HHT-associated peripheral telangiectasia and MMD-characteristic intracranial arterial stenosis, suggesting a possible synergistic interaction between variants affecting distinct vascular signaling pathways. These findings offer new insights into the genetic mechanisms underlying complex hereditary vascular disorders and emphasize the importance of comprehensive genetic testing in diagnosing atypical vascular phenotypes.

遗传性出血性毛细血管扩张症和烟雾病共存:一个突出潜在遗传协同作用的病例报告。
遗传性出血性毛细血管扩张症(HHT)与烟雾病(MMD)共存是非常罕见的。我们报告了首例45岁女性携带两种与血管疾病相关的遗传变异的病例:ACVRL1的致病突变(c.1231C>T, p.Arg411Trp)和RNF213的一种不确定意义的新变异(c.13685C>T, p.Pro4562Leu)。值得注意的是,该病例同时表现为hht相关的外周毛细血管扩张和mmd特征的颅内动脉狭窄,这表明影响不同血管信号通路的变异之间可能存在协同作用。这些发现为复杂遗传性血管疾病的遗传机制提供了新的见解,并强调了综合基因检测在诊断非典型血管表型中的重要性。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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来源期刊
Application of Clinical Genetics
Application of Clinical Genetics Biochemistry, Genetics and Molecular Biology-Genetics
CiteScore
5.40
自引率
0.00%
发文量
20
审稿时长
16 weeks
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