In Costello Syndrome, which genetic mutation is typically involved?

In Costello Syndrome, the typical genetic mutation involved is in the HRAS gene. This gene is part of the RAS family and encodes a protein that plays a crucial role in cell signaling pathways, which regulate cell growth and differentiation. Mutations in HRAS lead to abnormal cellular proliferation and contribute to the various phenotypic manifestations of Costello Syndrome, including distinctive facial features, skin changes, and an increased risk of certain tumors.

This association with HRAS is well-documented in the literature and helps distinguish Costello Syndrome from other genetic disorders that may present similarly but are caused by mutations in different genes. For instance, while BRAF mutations are related to other conditions like Cardiofaciocutaneous syndrome, they are not the underlying cause in Costello Syndrome. Similarly, MYH7 mutations are primarily associated with certain types of cardiomyopathy, and IVD mutations are linked to conditions like maple syrup urine disease. The specificity of HRAS mutations in Costello Syndrome underscores the importance of genetic testing and clinical correlation in understanding and managing this disorder.