Mutations in the TGF-β repressor SKI cause Shprintzen-Goldberg syndrome with aortic aneurysm.

doi:10.1038/ng.2421

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Article

Mutations in the TGF-β repressor SKI cause Shprintzen-Goldberg syndrome with aortic aneurysm.

Nature genetics - 1 Nov 2012

Doyle Alexander J, Doyle Jefferson J, Bessling Seneca L, Maragh Samantha, Lindsay Mark E, Schepers Dorien, Gillis Elisabeth, Mortier Geert, Homfray Tessa, Sauls Kimberly, Norris Russell A, Huso Nicholas D, Leahy Dan, Mohr David W, Caulfield Mark J, Scott Alan F, Destrée Anne, Hennekam Raoul C, Arn Pamela H, Curry Cynthia J, Van Laer Lut, McCallion Andrew S, Loeys Bart L, Dietz Harry C

Abstract excerpt

Elevated transforming growth factor (TGF)-β signaling has been implicated in the pathogenesis of syndromic presentations of aortic aneurysm, including Marfan syndrome (MFS) and Loeys-Dietz syndrome (LDS). However, the location and character of many of the causal mutations in LDS intuitively imply diminished TGF-β signaling. Taken together, these data have engendered controversy regarding the specific role of...

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PMID: 23023332
DOI: 10.1038/ng.2421
PMCID: PMC3545695

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