A restricted spectrum of NRAS mutations causes Noonan syndrome
IC Cirstea, K Kutsche, R Dvorsky, L Gremer, C Carta… - Nature …, 2010 - nature.com
IC Cirstea, K Kutsche, R Dvorsky, L Gremer, C Carta, D Horn, AE Roberts, F Lepri…
Nature genetics, 2010•nature.comNoonan 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.
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.
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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