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.

Zampino, G., Digilio, C., Stuppia, L., Pantaleoni, F., Tartaglia, M., Dallapiccola, B., Dentici, M. L., Zenker, M., A RESTRICTED SPECTRUM OF NRAS MUTATION CAUSES NOONAN SYNDROME, <<NATURE GENETICS>>, 2010; 42 (1) (Gennaio): 27-29 [http://hdl.handle.net/10807/31448]

A RESTRICTED SPECTRUM OF NRAS MUTATION CAUSES NOONAN SYNDROME

Zampino;F; Tartaglia;
2010

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.
Inglese
Zampino, G., Digilio, C., Stuppia, L., Pantaleoni, F., Tartaglia, M., Dallapiccola, B., Dentici, M. L., Zenker, M., A RESTRICTED SPECTRUM OF NRAS MUTATION CAUSES NOONAN SYNDROME, <<NATURE GENETICS>>, 2010; 42 (1) (Gennaio): 27-29 [http://hdl.handle.net/10807/31448]
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/10807/31448
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