The mutation was not found in patients parents DNA
Gene mutations in the HRAS sequence are present in most patients affected with Costello syndrome, according to a new study in the American Journal of Medical Genetics. The mutations occurred de novo in patients, meaning, they were not observed in their parents genes. The study is published in the December issue of the journal, which is published by John Wiley & Sons. It is also available online via Wiley Interscience.
Costello Syndrome is very rare, with only 150 cases reported worldwide. It is associated with mental retardation, distinctive facial characteristics, cardiovascular abnormalities, and a predisposition for tumors. Patients often develop soft tissue tumors in childhood and bladder cancer as young adults.
Amy Molnar | EurekAlert!
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