Publication at Second Faculty of Medicine |
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.