What gene(s) change causes cardiofaciocutaneous syndrome?
Cardiofaciocutaneous syndrome(CFC) is caused by genetic changes in 4 different genes, BRAF, MAP2K1, MAP2K2, and KRAS. Everyone has two copies of these genes. We get one copy of the gene from our mother and one copy of the gene from our father. Having a harmful change (mutation) in just one copy of any one of these genes causes CFC.
The genes that cause CFC are part of a pathway in our bodies called the Ras/MapKinase pathway .Correct cell communication in this pathway is needed for normal development before birth. If the BRAF, KRAS, MAP2K1, or MAP2K2 gene has a harmful change (mutation) in it, cell communication and overall development is disrupted, leading to the features seen in cardiofaciocutaneous syndrome. In order to learn more about the genes involved in CFC, people can ask their main doctor or geneticist for more information.
Rauen KA. Cardiofaciocutaneous Syndrome. 2007 Jan 18 [Updated 2016 Mar 3]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016. Available from: http://www.ncbi.nlm.nih.gov/books/NBK1186/