Hereditary changes in genes are often the cause of rare diseases. For example, disease-causing gene variants (PVs) in the HRAS gene cause Costello syndrome and PVs in the KRAS gene cause Noonan syndrome and cardio-facio-cutaneous syndrome. If such PVs only arise during embryonic development in the womb, those affected suffer from a mosaic disease in which both altered and healthy cells are present.
Genetic mutations in HRAS, KRAS genes linked to childhood cancers
Hereditary changes in genes are often the cause of rare diseases. For example, disease-causing gene variants (PVs) in the HRAS gene cause Costello syndrome and PVs in the KRAS gene cause Noonan syndrome and cardio-facio-cutaneous syndrome. If such PVs only arise during embryonic development in the womb, those affected suffer from a mosaic disease in which both altered and healthy cells are present.