A restricted spectrum of NRAS mutations causes Noonan syndrome

Ion C. Cirstea, Kerstin Kutsche, Radovan Dvorsky, Lothar Gremer, Claudio Carta, Denise Horn, Amy E. Roberts, Francesca Lepri, Torsten Merbitz-Zahradnik, Rainer König, Christian P. Kratz, Francesca Pantaleoni, Maria L. Dentici, Victoria A. Joshi, Raju S. Kucherlapati, Laura Mazzanti, Stefan Mundlos, Michael A. Patton, Margherita Cirillo Silengo, Cesare RossiGiuseppe Zampino, Cristina Digilio, Liborio Stuppia, Eva Seemanova, Len A. Pennacchio, Bruce D. Gelb, Bruno Dallapiccola, Alfred Wittinghofer, Mohammad R. Ahmadian, Marco Tartaglia, Martin Zenker

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Pages (from-to)27-29
Number of pages3
JournalNature Genetics
Volume42
Issue number1
DOIs
Publication statusPublished - Jan 2010

ASJC Scopus subject areas

  • Genetics

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