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A restricted spectrum of NRAS mutations causes Noonan syndrome

Published in:

Nat Genet 42(1) , 27-9 (Jan 2010)

Author(s):

Cirstea, I. C., Kutsche, K., Dvorsky, R., Gremer, L., Carta, C., Horn, D., Roberts, A. E., Lepri, F., Merbitz-Zahradnik, T., Konig, R., Kratz, C. P., Pantaleoni, F., Dentici, M. L., Joshi, V. A., Kucherlapati, R. S., Mazzanti, L., Mundlos, S., Patton, M. A., Silengo, M. C., Rossi, C., Zampino, G., Digilio, C., Stuppia, L., Seemanova, E., Pennacchio, L. A., Gelb, B. D., Dallapiccola, B., Wittinghofer, A., Ahmadian, M. R., Tartaglia, M., Zenker, M.

DOI:

10.1038/ng.497

Abstract:

Noonan syndrome, a developmental disorder characterized by congenital heart defects, reduced growth, facial dysmorphism and variable cognitive deficits, is caused by constitutional dysregulation of the RAS-MAPK signaling pathway. Here we report that germline NRAS mutations conferring enhanced stimulus-dependent MAPK activation account for some cases of this disorder. These findings provide evidence for an obligate dependency on proper NRAS function in human development and growth.

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