What causes Rett syndrome?
Rett syndrome is caused by a mutation in the MECP2 gene on the X chromosome. The MECP2 gene is responsible for turning other genes off and on (some genes are active for only a specific period in development and then shut off forever.) MECP2 mutations (change in the gene) cause the turn-on-off mechanism to fail, allowing other genes to stay active when they are no longer needed, or not come on when they are needed.