Advances of RASopathies in short stature

Abstract:

RASopathies are a group of disorders characterized by mutations in genes that encode components of the Ras/mitogen activated protein kinase（MAPK） pathway. Ras/MAPK pathway plays a critical role in cell differentiation，proliferation and survival. Therefore，RASopathies have overlapping phenotypic features which may lead to difficult diagnosis. As a common phenotype，short stature affects most RASopathies patients. Due to complex possible mechanisms for short stature，growth hormone（GH） therapy efficacy remains to be elucidated and further research. In this review，we summarize short stature that associated with RASopathies and highlight the GH therapy in reported affected individuals with RASopathies.