2013 Orlando reserch symposium 2013 Reserch symposium group photo

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A group of nine developmental syndromes, the ‘RASopathies’, is caused by germline mutations in genes that encode protein components of the critical signal transduction cascade, the Ras/mitogen activated protein kinase (MAPK) pathway. At present, these syndromes include:-

  • Noonan syndrome
  • Multiple lentigines syndrome (formally called LEOPARD syndrome)
  • Hereditary Gingival fibromatosis type 1
  • Capillary malformation-AV malformation syndrome
  • Neurofibromatosis type 1
  • Legius syndrome
  • Costello syndrome
  • Cardio-facio-cutaneous syndrome - CFC
  • Autoimmune lymphoproliferative syndrome

The Ras/MAPK pathway is essential in the regulation of the cell cycle, differentiation, growth and cell senescence, all of which are critical to normal development. Therefore, it is not surprising that its dysregulation has profound effects on development. Each syndrome is this calls of developmental syndromes, exhibits unique phenotypic features, however, since they all cause dysregulation of the Ras/MAPK pathway, there are numerous overlapping phenotypic features among the syndromes, including characteristic facial features, cardiac defects, cutaneous abnormalities, neurocognitive delay and a predisposition to malignancies. Dr. Kate Rauen UCSF June 28, 2009