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 TGFBR1.,Human Genome Variation

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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 TGFBR1.
Human Genome Variation ( IF 1.0 ) Pub Date : 2019-01-18 , DOI: 10.1038/s41439-019-0038-x
Hironori Hara ₁ , Norifumi Takeda ₁ , Takayuki Fujiwara ₁ , Hiroki Yagi ₁ , Sonoko Maemura ₁ , Tsubasa Kanaya ₁ , Kan Nawata ₂ , Hiroyuki Morita ₁ , Issei Komuro ₁

Affiliation

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 TGFBR1 [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.

中文翻译：

Loeys-Dietz综合征患者的主动脉瘤中TGF-β信号转导的激活是由新型TGFBR1功能丧失引起的。

Loeys-Dietz综合征（LDS）是由转化生长因子-β（TGF-β）相关基因的变异引起的，其特征是主动脉瘤和解剖。我们报道了一位患有TGFBR1的从头错义变异的LDS患者[c.1126A> G，p。（Lys376Glu）]，尽管体外实验表明，主动脉中存在活跃的TGF-β信号传导，功能突变位于丝氨酸/苏氨酸激酶域内。这种TGF-β悖论在LDS主动脉病变中的潜在机制应进一步研究。

更新日期：2019-11-18

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