HRAS and Costello Syndrome
- DOI:
- 10.1093/med/9780199934522.003.0082
Costello syndrome (MIM 218040) is a multiple congenital anomaly/mental retardation syndrome originally reported by J.M. Costello in 1971 (Costello, 1971). Patients with Costello syndrome have distinctive facial features, loose skin, hypermobility of the small joints, heart defects including cardiomyopathy, and predisposition to tumors. Germline mutations in the Harvey rat sarcoma (HRAS) proto-oncogene have been identified in patients with Costello syndrome. Patients have heterozygous HRAS mutations, indicating an autosomal dominant inheritance pattern. Molecular analysis of the patients’ parents showed that the mutations were not inherited, suggesting that the mutations occurred de novo. Costello syndrome is the first disorder that has been found to be associated with germline mutations in the RAS subfamily of small guanosine triphosphatases (GTPases). These observations suggest that the proto-oncogene HRAS plays an important role in human development.
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