SCIENTIFIC BACKGROUND

BRAF, CBL, HRAS, KRAS, LZTR1, MAP2K1, MAP2K2, MRAS, NF1, NRAS, PPP1CB, PTPN11, RAF1, RASA2, RIT1, RRAS, SHOC2, SOS1, SOS2, SPRED1

SCIENTIFIC BACKGROUND

The term RASopathies refers to a clinically and genetically heterogeneous group of diseases caused by germline mutations in genes coding for proteins of the RAS/mitogen-activated protein kinase signaling pathway. The clinical symptoms affect several organ systems (integument, cardiovascular system, skeleton, muscles, gastrointestinal tract, CNS, eyes). Some syndromes have characteristic craniofacial features and some have an increased risk of tumors. Clinically, there is a large overlap between the individual clinical pictures, which can make a reliable clinical diagnosis and targeted diagnostics more difficult. In addition, since several of these diseases can be caused by pathogenic changes in various genes of the RAS/MAPK signaling pathway, stepwise diagnostics using next generation sequencing (NGS) may be useful for clarification.

 

Syndromes include: Cardiofaciocutaneous syndrome, Costello syndrome, Legius syndrome, LEOPARD syndrome, Neurofibromatosis type1 and Noonan syndrome.

 

References

Tajan et al. 2018 Endocr Rev 39:676 / Zenker et Kutsche 2016, medgen 28:15 / Aoki et al. 2016, J of Hum Genet 61:33 / Rauen et al. 2014, Am J Med Genet Part A 9999:1

GENES

BRAF, CBL, HRAS, KRAS, LZTR1, MAP2K1, MAP2K2, MRAS, NF1, NRAS, PPP1CB, PTPN11, RAF1, RASA2, RIT1, RRAS, SHOC2, SOS1, SOS2, SPRED1
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