Researchers led by Leslie Biesecker at the National Human Genome Research Institute found that Proteus syndrome results from a mutation in AKT1 that appears as a mosaic throughout the affected person's tissues. The condition is characterized by skin overgrowth and abnormal bone development. As they report in the New England Journal of Medicine, the researchers conducted exome sequencing of tissues from people with Proteus syndrome and found that 90 percent of the patients had a somatic AKT1 mutation. "We now have a better chance of making or finding a drug that can arrest this overgrowth and begin to use it early on in the disease progression," Biesecker says in a statement. The researchers also plan to test Joseph Merrick, who made a living in the late 1800s as the "Elephant Man", to determine whether he had Proteus syndrome.
Behind Proteus Syndrome
Jul 29, 2011