"Broadly, RASopathies can be described as being caused by germline (germline RASopathies) or somatic mutations 8. The term mosaic RASopathies is often used to describe RASopathy syndromes due to somatic mutations, but this entity has a variable definition in the literature, encompassing syndromes caused by somatic mutations ('true' mosaic RASopahies) affecting the Ras/MAPK pathway, isolated malformations due to somatic mutations affecting the Ras/MAPK pathway, and mosaic forms of germline RASopathies 8."
"Broadly, RASopathies can be described as being caused by germline (germline RASopathies) or somatic mutations 8. The term mosaic RASopathies is often used to describe RASopathy syndromes due to somatic mutations, but this entity has a variable definition in the literature, encompassing syndromes caused by somatic mutations ('true' mosaic RASopahies) affecting the Ras/MAPK pathway, isolated malformations due to somatic mutations affecting the Ras/MAPK pathway, and mosaic forms of germline RASopathies 8."
"cardiofaciocutaneous syndrome: an autosomal dominant Noonan-like disorder caused by a germline mutation to one of many possible genes, the most common being the BRAF gene which encodes for BRAF, an oncoprotein, which when dysfunctional results in increased signalling of the Ras/MAPK pathway 1-3"
"Costello syndrome: an autosomal dominant Noonan-like disorder caused by a germline mutation to the HRAS gene which encodes for HRAS, which when dysfunctional results in increased signalling of the Ras/MAPK pathway 1-3"
Expected headings
"Germline RASopathy syndromes"
"Mosaic RASopathy syndromes"
"cutaneous anomalies (e.g. café au lait spots)"
"Noonan syndrome: autosomal dominant disorder caused by a germline mutation to one of many possible genes, the most common being the PTPN11 gene which encodes for SHP2, which results in an inability to inactivate SHP2 causing increased signalling of the Ras/MAPK pathway; other genes that may be implicated include SOS1, KRAS, RAF1, NRAS, and SHOC2 1-3"
"Noonan syndrome: autosomal dominant disorder caused by a germline mutation to one of many possible genes, the most common being the PTPN11 gene which encodes for SHP2, which results in an inability to inactivate SHP2 causing increased signalling of the Ras/MAPK pathway; other genes that may be implicated include SOS1, KRAS, RAF1, NRAS, and SHOC2 1-3"
"cutaneous skeletal hypophosphataemia syndrome: due to somatic mutations in HRAS, NRAS or FGFR1 8"