Noonan Syndrome: Common Molecular Alterations and the Consequences

摘要

Noonan syndrome (NS) is a relatively common autosomal dominant disorder with characteristic features and molecular alterations. The most common recurrent alteration is in the PTPNII gene, a proto-oncogene that encodes a cytoplasmic receptor tyrosine phosphatase and helps regulate kinase activity and control cell survival and replication. Mutations in this gene can increase the risk for the development of multiple different malignancies, particularly hematopoietic. Here we present a case of NS with aPTPNII mutation demonstrating the classic presentation of Noonan syndrome as well as the expected clinical follow-up.