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Children's National collaborates with NIH researchers to identify gene variant in Proteus syndrome
Date:8/10/2011

WASHINGTON, DCOrthopaedic surgeons from Children's National Medical Center are part of a team of researchers that has identified the genetic mutation causing Proteus syndrome, a rare disorder in which tissue and bone grow massively out of proportion. The discovery appears in the July 27, 2011, online edition of the New England Journal of Medicine. The study, led by researchers at the National Human Genome Research Institute (NHGRI), part of the National Institutes of Health (NIH), may have larger implications in both the identification and treatment of Proteus syndrome, as well as for certain types of cancer.

The NIH-based research team found that a point mutation a single-letter misspelling in the DNA of the genetic code in the AKT1 gene activates the sporadic tissue growth associated with Proteus syndrome. This particular genetic mutation in AKT1 is almost always undetectable in simple blood samples, making it necessary for surgical teams to collect and contribute deep tissues, including bone, cartilage, and growth plates, while patients with Proteus syndrome are undergoing necessary surgical procedures as part of their standard care.

"Proteus syndrome is an extremely rare disorder, making tissue sample collection especially challenging," said Laura L. Tosi, MD, of the Division of Orthopaedic Surgery and Sports Medicine at Children's National. "Given the importance of this research, we stepped up to the plate and, over the last decade, Children's National surgeons have collected more than one third of the study's tissue samples while Proteus syndrome patients underwent necessary procedures here at Children's National and at NIH."

Dr. Tosi, as well as the Chief of Orthopaedics and Sports Medicine, Laurel Blakemore, MD, and Kurt D. Newman, MD, Senior Vice President of the Joseph E. Robert, Jr., Center for Surgical Care, contributed tissue samples from Proteus patients treated at Children's National to help fuel the NIH-bas
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Contact: Emily Dammeyer
edammeye@childrensnational.org
202-476-4500
Children's National Medical Center
Source:Eurekalert

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