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Mutations in v-ski sarcoma viral oncogene homolog (SKI) as the cause of Shprintzen-Goldberg syndrome (SGS) with aortic aneurysm

Genetic studies suggest mutations in SKI cause SGS with aortic aneurysm, a connective tissue disorder with unknown etiology. In 10 patients with SGS, whole-exome and Sanger sequencing identified mutations in SKI, which is a repressor of transforming growth factor-b (TGFB; TGFb) signaling. In zebrafish, morpholino-mediated knockdown of SKI paralogs recapitulated the SGS phenotype seen in humans. Next steps could include validating the results in a larger patient cohort and developing an assay to detect SKI mutations.

SciBX 5(40); doi:10.1038/scibx.2012.1069
Published online Oct. 11, 2012

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Doyle, A.J. et al. Nat. Genet.; published online Sept. 30, 2012;
doi:10.1038/ng.2421
Contact: Harry C. Dietz, The Johns Hopkins University School of Medicine, Baltimore, Md.
e-mail:
hdietz@jhmi.edu