Mutations in the TGF-beta repressor SKI cause Shprintzen-Goldberg syndrome with aortic aneurysm
- Doyle, A.J.
- Doyle, J.J.
- Bessling, S.L.
- Maragh, S.
- Lindsay, M.E.
- Schepers, D.
- Gillis, E.
- Mortier, G.
- Homfray, T.
- Sauls, K.
- Norris, R.A.
- Huso, N.D.
- Leahy, D.
- Mohr, D.W.
- Caulfield, M.J.
- Scott, A.F.
- Destree, A.
- Hennekam, R.C.
- Arn, P.H.
- Curry, C.J.
- Van Laer, L.
- McCallion, A.S.
- Loeys, B.L.
- Dietz, H.C.
DOIAbstract
Item does not contain fulltextElevated transforming growth factor (TGF)-beta 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-beta signaling. Taken together, these data have engendered controversy regarding the specific role of TGF-beta in disease pathogenesis. Shprintzen-Goldberg syndrome (SGS) has considerable phenotypic overlap with MFS and LDS, including aortic aneurysm. We identified causative variation in ten individuals with SGS in the proto-oncogene SKI, a known repressor of TGF-beta activity. Cultured dermal fibrobl...
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