Genes, Vol. 14, Pages 2111: The Cardiofaciocutaneous Syndrome: From Genetics to Prognostic & ndash;Therapeutic Implications

Genes, Vol. 14, Pages 2111: The Cardiofaciocutaneous Syndrome: From Genetics to Prognostic–Therapeutic Implications Genes doi: 10.3390/genes14122111 Authors: Giovanna Scorrano Emanuele David Elisa Calì Roberto Chimenz Saverio La Bella Armando Di Ludovico Gabriella Di Rosa Eloisa Gitto Kshitij Mankad Rosaria Nardello Giuseppe Donato Mangano Chiara Leoni Giorgia Ceravolo Cardiofaciocutaneous (CFC) syndrome is one of the rarest RASopathies characterized by multiple congenital ectodermal, cardiac and craniofacial abnormalities with a mild to severe ocular, gastrointestinal and neurological involvement. It is an autosomal dominant syndrome, with complete penetrance, caused by heterozygous pathogenic variants in the genes BRAF, MAP2K1/MEK1, MAP2K2/MEK2, KRAS or, rarely, YWHAZ, all part of the RAS-MAPK pathway. This pathway is a signal transduction cascade that plays a crucial role in normal cellular processes such as cell growth, proliferation, differentiation, survival, metabolism and migration. CFC syndrome overlaps with Noonan syndrome, Costello syndrome, neurofibromatosis type 1 and Legius syndrome, therefore making the diagnosis challenging. Neurological involvement in CFC is more severe than in other RASopathies. Phenotypic variability in CFC patients is related to the specific gene affected, without a recognized genotype–phenotype correlation for distinct pathogenic variants. Currently, there is no specific treatment f...
Source: Genes - Category: Genetics & Stem Cells Authors: Tags: Review Source Type: research