Abstract
Cardio-facio-cutaneous (CFC) syndrome is a rare disorder characterized by a distinctive facial appearance, skin abnormalities, heart defects, and growth delays. Rodriguez-Viciana et al. show that the disorder is caused by acquired mutations in genes encoding components of the mitogen-activated protein kinase (MAPK) signaling pathway. About 90% of the 23 patients studied carried missense mutations in the BRAF , MEK1 , or MEK2 genes that functionally altered the corresponding proteins. This discovery highlights the critical role of the MAPK pathway in human development and provides a tool for molecular diagnosis of CFC syndrome. P. Rodriguez-Viciana, O. Tetsu, W. E. Tidyman, A. L. Estep, B. A. Conger, M. Santa Cruz, F. McCormick, K. A. Rauen, Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome. Science 311 , 1287-1290 (2006). [Abstract] [Full Text]
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