A restricted spectrum of NRAS mutations causes Noonan syndrome.
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ABSTRACT:
SUBMITTER: Cirstea IC
PROVIDER: S-EPMC3118669 | biostudies-literature | 2010 Jan
REPOSITORIES: biostudies-literature
Publications
A restricted spectrum of NRAS mutations causes Noonan syndrome.
Cirstea Ion C IC Kutsche Kerstin K Dvorsky Radovan R Gremer Lothar L Carta Claudio C Horn Denise D Roberts Amy E AE Lepri Francesca F Merbitz-Zahradnik Torsten T König Rainer R Kratz Christian P CP Pantaleoni Francesca F Dentici Maria L ML Joshi Victoria A VA Kucherlapati Raju S RS Mazzanti Laura L Mundlos Stefan S Patton Michael A MA Silengo Margherita Cirillo MC Rossi Cesare C Zampino Giuseppe G Digilio Cristina C Stuppia Liborio L Seemanova Eva E Pennacchio Len A LA Gelb Bruce D BD Dallapiccola Bruno B Wittinghofer Alfred A Ahmadian Mohammad R MR Tartaglia Marco M Zenker Martin M
Nature genetics 20091206 1
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. ...[more]
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