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.
A restricted spectrum of NRAS mutations causes Noonan syndrome
CIRILLO, Margherita;ROSSI, CLAUDIA;
2010-01-01
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.
File in questo prodotto:
| File | Dimensione | Formato | |
|---|---|---|---|
|
ID_435148_PMID_19966803.pdf
Accesso riservato
Tipo di file:
PDF EDITORIALE
Dimensione
364.26 kB
Formato
Adobe PDF
|
364.26 kB | Adobe PDF | Visualizza/Apri Richiedi una copia |
I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
