title: The RASopathies as an example of RAS/MAPK pathway disturbances - clinical presentation and molecular pathogenesis of selected syndromes.
abstract: The RASopathies are a class of developmental syndromes. Each of them exhibits distinctive phenotypic features, although there are numerous overlapping clinical manifestations that include: dysmorphic craniofacial features, congenital cardiac defects, skin abnormalities, varying degrees of intellectual disability and increased risk of malignancies. These disorders include: Noonan syndrome, Costello syndrome, LEOPARD syndrome, cardio-facio-cutaneous syndrome (CFC), capillary malformation-arteriovenous malformation syndrome (CM-AVM), Legius syndrome and neurofibromatosis type 1 (NF1). The RASopathies are associated with the presence of germline mutation in genes encoding specific proteins of the RAS/mitogen - activated protein kinase (MAPK) pathway that plays a crucial role in embryonic and postnatal development. In this review, we present the clinical and molecular features of selected syndromes from the RASopathies group.
authors.affiliation: Department of Medical Genetics, Institute of Mother and Child, Kasprzaka 17a, 01-211 Warsaw, Poland, tel. (+48 22) 32-77-361, tel. (+48) 504-125-360, e-mail: natalia.bezniakow@imid.med.pl.
authors.forename: Natalia
authors.initials: N
authors.lastname: Bezniakow
authors.forename: Monika
authors.initials: M
authors.lastname: Gos
authors.forename: Ewa
authors.initials: E
authors.lastname: Obersztyn
mesh_terms: D001165:Arteriovenous Malformations / Q000235:genetics*; D002196:Capillaries / Q000002:abnormalities*; D056685:Costello Syndrome; D019465:Craniofacial Abnormalities / Q000235:genetics*; D004476:Ectodermal Dysplasia / Q000235:genetics*; D019066:Facies; D005183:Failure to Thrive / Q000235:genetics*; D018095:Germ-Line Mutation; D006330:Heart Defects, Congenital / Q000235:genetics*; D006801:Humans; D044542:LEOPARD Syndrome / Q000235:genetics; D020935:MAP Kinase Signaling System / Q000235:genetics; D020928:Mitogen-Activated Protein Kinases / Q000235:genetics*; D009456:Neurofibromatosis 1 / Q000235:genetics*; D009634:Noonan Syndrome; D019339:Port-Wine Stain / Q000235:genetics*; D015398:Signal Transduction / Q000235:genetics; D018631:ras Proteins / Q000235:genetics*
chemical_list: D020928:Mitogen-Activated Protein Kinases; D018631:ras Proteins