Proteus Syndrome - Genetics

Genetics

In 2011 researchers determined the cause of Proteus syndrome. In 26 of 29 patients who met strict clinical criteria for the disorder Lindhurst et al. identified an activating mutation in AKT1 kinase in a mosaic state gene. This mutation in the AKT1 gene was present in 26 of 29 patients affected.

Previous research had suggested the condition linked to PTEN on chromosome 10, while other research pointed to chromosome 16. Prior to the findings regarding AKT1 in 2011, other researchers expressed doubt regarding the involvement of PTEN or GPC3, which codes for glypican 3 and may play a role in regulating cell division and growth regulation.