RASopathy

The RASopathies are developmental syndromes caused by germline mutations (or in rare cases by somatic mosaicism) in genes that alter the Ras subfamily and mitogen-activated protein kinases that control signal transduction, including:

• Capillary malformation-AV malformation syndrome
• Autoimmune lymphoproliferative syndrome
• Cardiofaciocutaneous syndrome
• Hereditary gingival fibromatosis type 1
• Neurofibromatosis type 1
• Noonan syndrome
• Costello syndrome, Noonan-like[1]
• Legius syndrome, Noonan-like
• Noonan syndrome with multiple lentigines, formerly called LEOPARD syndrome, Noonan-like

References

1. Schuhmacher AJ, Guerra C, Sauzeau V, Cañamero M, Bustelo XR, Barbacid M (June 2008). "A mouse model for Costello syndrome reveals an Ang II-mediated hypertensive condition". J. Clin. Invest. 118 (6): 2169–79. doi:10.1172/JCI34385. PMC 2381749. PMID 18483625.

External links

• RASopathies Network USA, founded 2010 rasopathiesnet.org, accessed February 27, 2014
• About RAS Pathway Syndromes RASopathy Network, RAS-Pathway-syndromes.com, accessed February 27, 2014.