由一种新的功能丧失变异导致的洛伊迪茨综合征患者主动脉瘤中转化生长因子-β信号通路的激活。
Activation of TGF-β signaling in an aortic aneurysm in a patient with Loeys-Dietz syndrome caused by a novel loss-of-function variant of .
作者信息
Hara Hironori, Takeda Norifumi, Fujiwara Takayuki, Yagi Hiroki, Maemura Sonoko, Kanaya Tsubasa, Nawata Kan, Morita Hiroyuki, Komuro Issei
机构信息
1Department of Cardiovascular Medicine, The University of Tokyo Hospital, 7-3-1 Hongo, Bunkyo-ku, Tokyo 113-8655 Japan.
2Department of Cardiac Surgery, The University of Tokyo Hospital, 7-3-1 Hongo, Bunkyo-ku, Tokyo 113-8655 Japan.
出版信息
Hum Genome Var. 2019 Jan 18;6:6. doi: 10.1038/s41439-019-0038-x. eCollection 2019.
Loeys-Dietz syndrome (LDS) is caused by variants of transforming growth factor-β (TGF-β)-related genes and is characterized by aortic aneurysm and dissection. We report an LDS patient with a de novo missense variant of [c.1126A>G, p.(Lys376Glu)] in which active TGF-β signaling was observed in the aorta, despite the in vitro demonstration that the loss-of-function mutation lies within the serine/threonine kinase domain. The mechanism underlying this TGF-β paradox in LDS aortopathy should be further investigated.
洛伊氏综合征（LDS）由转化生长因子-β（TGF-β）相关基因的变异引起，其特征为主动脉瘤和主动脉夹层。我们报告了一名患有[c.1126A>G, p.(Lys376Glu)]新发错义变异的LDS患者，尽管体外实验表明功能丧失突变位于丝氨酸/苏氨酸激酶结构域内，但在其主动脉中观察到了活跃的TGF-β信号传导。LDS主动脉病变中这种TGF-β矛盾现象的潜在机制应进一步研究。
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