RASopathy refers to a group of related genetic syndromes caused by mutations in genes that affect the RAS/MAPK pathway—a key signaling pathway that helps control cell growth, differentiation, and survival. These conditions share overlapping features because they all involve disruptions in the same biological pathway.
Common RASopathies:
- Noonan syndrome
- Costello syndrome
- Cardiofaciocutaneous (CFC) syndrome
- Neurofibromatosis type 1 (NF1)
- Legius syndrome
- Noonan syndrome with multiple lentigines (formerly LEOPARD syndrome)
- Capillary malformation–arteriovenous malformation syndrome
Shared Features Among RASopathies:
- Distinctive facial features
- Congenital heart defects (e.g., hypertrophic cardiomyopathy, pulmonary valve stenosis)
- Developmental delays or intellectual disability
- Short stature
- Skin abnormalities
- Increased cancer risk in some types
- Skeletal abnormalities
Genetic Basis:
- Caused by mutations in genes like HRAS, KRAS, NRAS, BRAF, RAF1, PTPN11, SOS1, SHOC2, and others—all involved in the RAS/MAPK signaling pathway.
Why It Matters:
Because of the shared pathway involvement, RASopathies can sometimes be difficult to distinguish clinically. Genetic testing is key for an accurate diagnosis and helps guide management and surveillance, especially for heart issues or cancer risks.
Would you like to dive deeper into a specific syndrome or gene involved in RASopathies?
No comments:
Post a Comment