Activating Mutations of RRAS2 Are a Rare Cause of Noonan Syndrome.

ABSTRACT: Aberrant signaling through pathways controlling cell response to extracellular stimuli constitutes a central theme in disorders affecting development. Signaling through RAS and the MAPK cascade controls a variety of cell decisions in response to cytokines, hormones, and growth factors, and its upregulation causes Noonan syndrome (NS), a developmental disorder whose major features include a distinctive facies, a wide spectrum of cardiac defects, short stature, variable cognitive impairment, and predisposition to malignancies. NS is genetically heterogeneous, and mutations in more than ten genes have been reported to underlie this disorder. Despite the large number of genes implicated, about 10%-20% of affected individuals with a clinical diagnosis of NS do not have mutations in known RASopa

SUBMITTER: Capri Y 

PROVIDER: S-EPMC6562003 | biostudies-literature | 2019 Jun

REPOSITORIES: biostudies-literature