Genetic testing for lymphedema in RASopathies

• Main Authors: Paolacci Stefano, Rakhmanov Yeltay, Maltese Paolo Enrico, Bruson Alice, Bertelli Matteo
• Format: Article
• Language: English
• Published: Sciendo 2018-09-01
• Series: The EuroBiotech Journal
• Subjects: primary lymphatic malformations; noonan syndrome; noonan-like syndrome; rasopathies; ebtna utility gene test
• Online Access: https://doi.org/10.2478/ebtj-2018-0025

Variants affecting the function of genes in the RAS–mitogen-activated protein kinase (MAPK) signal transduction pathway have been identified as responsible for a group of developmental syndromes known as RASopathies. Noonan (NS) and cardiofaciocutaneous syndromes (CFC) represent the most frequent and best characterized RASopathies. Many cases of RASopathies are associated with lymphatic malformations that finally may result in lymphedema. We developed the test protocol “Lymphedema in RASopathies” on the basis of the latest research findings and diagnostic protocols on lymphatic malformation in RASopathies. The genetic test is useful for confirming diagnosis, as well as for differential diagnosis, couple risk assessment and access to clinical trials.