Two new studies show that haploinsufficiency for TGFB2 causes a familial syndrome of thoracic aortic aneurysms and dissections with other clinical features that overlap the Marfan, Loeys-Dietz spectrum of syndromes. Their finding of loss-of-function mutations in yet another transforming growth factor (TGF)-β pathway gene reinforces the seeming paradox of observed increases in the downstream TGF-β signaling pathway.
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Katie Vicari
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Akhurst, R. The paradoxical TGF-β vasculopathies. Nat Genet 44, 838–839 (2012). https://doi.org/10.1038/ng.2366
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DOI: https://doi.org/10.1038/ng.2366
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