%0 Journal Article
%T Activation of TGF-¦Â signaling in an aortic aneurysm in a patient with Loeys-Dietz syndrome caused by a novel loss-of-function variant of TGFBR1
%J -
%D 2019
%R https://doi.org/10.1038/s41439-019-0038-x
%X Loeys¨CDietz syndrome (LDS) is caused by variants of transforming growth factor-¦Â (TGF-¦Â)-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-¦Â 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-¦Â paradox in LDS aortopathy should be further investigated
%U https://www.nature.com/articles/s41439-019-0038-x