A Mosaic Activating Mutation in AKT1 Associated with the Proteus Syndrome

The Proteus Syndrome was made known to the masses through the 1980's American film, The Elephant Man. The rare syndrome is characterized by an overgrowth of skin and tissues that create bulbous physical deformities. The New England Journal of Medicine recently published this article that associates a mutation in the AKT1 growth gene as a cause of the Proteus Syndrome. The experiment was conducted using exome sequencing and its results have allowed the world of genetics to further explore treatments for the life threatening syndrome.

Here is a link to the article in pdf format:

http://www.nejm.org/doi/pdf/10.1056/NEJMoa1104017