Hara Hironori, Takeda Norifumi, Fujiwara Takayuki, Yagi Hiroki, Maemura Sonoko, Kanaya Tsubasa, Nawata Kan, Morita Hiroyuki, Komuro Issei
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.
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。
