Rapid mutational analysis of RASopathy related genes in prenatal diagnosis - our first experience

• Autoři: MATYASOVA M.; MICHENKOVA A.; GROCHOVA I.; SVOBODOVÁ Eliška; SOUČKOVÁ Adéla; VLASIN P.; GROCHOVA D.N.
• Rok publikování: 2018
• Druh: Konferenční abstrakty
• Fakulta / Pracoviště MU: Přírodovědecká fakulta
• Popis: RASopathies represent a group of syndromes (e.g. Noonan, Costello, Cardio-Facio-Cutaneous, Legius and LEOPARD syndrome, neurofibromatosis 1 and 2 etc.) caused by mutations in genes encoding components of the signaling RAS/MAPK pathway. While postnatal symptoms of these conditions are well described, the prenatal features are more difficult to clearly determine. Reported are prenatal cases with indication of suspected RASopathy.