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The Ras/MAPK Pathway and the Cardio-Facio-Cutaneous Syndrome 

The Ras/MAPK Pathway and the Cardio-Facio-Cutaneous Syndrome
Chapter:
The Ras/MAPK Pathway and the Cardio-Facio-Cutaneous Syndrome
Author(s):

Katherine A. Rauen

DOI:
10.1093/med/9780199934522.003.0083
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date: 09 March 2021

Cardio-facio-cutaneous syndrome (CFC) is one of the RASopathies and is caused by dysregulation of activation in the Ras/mitogen-activated protein kinase (MAPK) pathway. The Ras/MAPK pathway plays an essential role in the regulation of growth, differentiation, the cell cycle and cell senescence, all of which are critical to normal development. Heterozygous mutations in four of the known genes that encode proteins of the Ras/MAPK pathway have been associated with CFC syndrome: BRAF, MAP2K1/MEK1, MAP2K2/MEK2 and KRAS. The phenotypic features associated with CFC syndrome include characteristic facies, short stature, and cardiac, ectodermal, gastrointestinal, ocular and musculoskeletal abnormalities. Variable neurologic and cognitive abnormalities are universally present and include hypotonia, motor delay, speech delay and/or learning disability. Mutations in BRAF account for approximately 75% of CFC individuals in which a gene mutation has been identified, whereas MEK1 or MEK2 mutations account for about 25% and KRAS accounts for less than 2%.

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