SCIENTIFIC BACKGROUND

BRAF, CBL, HRAS, KRAS, LZTR1, MAP2K1, MAP2K2, MRAS, NRAS, PPP1CB, PTPN11, RAF1, RIT1, SHOC2, SOS1, SOS2

Scientific Background

RASopathies is the term for a clinically and genetically heterogeneous group of disorders that are caused by germline mutations in genes that encode protein components of the Ras/mitogen-activated-protein kinase (MAPK) pathway. The Ras/MAPK pathway plays an essential role in processes crucial for normal development: regulation of the cell cycle, differentiation, growth and apoptosis. Therefore, dysregulation of this pathway has a profound impact on development.

 

Several organ systems, including the cardiovascular system, are affected. The syndromes overlap significantly in their signs and symptoms, which may complicate establishing a clear diagnosis and targeted diagnostic procedures. Moreover, several of these disorders may be caused by pathogenic changes in various genes of the Ras/MAPK pathway, most of which are activating changes which increase signal transduction within this pathway.

 

References

Rauen 2013, Annu Rev Genomics Hum Genet. 14:355-369

GENES

BRAF, CBL, HRAS, KRAS, LZTR1, MAP2K1, MAP2K2, MRAS, NRAS, PPP1CB, PTPN11, RAF1, RIT1, SHOC2, SOS1, SOS2
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