MECP2 Mutation data needed by scientific community

Individuals with MECP2  mutations who do not fit the criteria for a Rett Syndrome diagnosis 
It is likely that differences in the genetic make-up of an individual can modulate the impact of an MECP2 mutation. There are people with common MECP2 mutations, and normal X chromosome inactivation, who do not have Rett Syndrome. They may be protected from severe damage of  an MECP2 mutation by mutations in other genes. Identifying these modifiers could open the door to new avenues of  therapeutic intervention.

Research aimed at identifying modifiers is ongoing in animal models. (Click here for details.) However, it is of crucial importance to validate these findings in people.  If your child or patient has a documented MECP2 mutation but does not have a clinical diagnosis of Rett Syndrome please contact us. 


Individuals with a clinical diagnosis of Rett Syndrome but without an MECP2 mutation
About 5 - 10% of individuals with a clinical diagnosis of Rett Syndrome have not tested positive for MECP2 mutations. These individuals may either have a mutation in MECP2 that remains undetected or they may have a mutation in another gene.

RSRT maintains a database of MECP2 mutation-negative individuals and is working with labs who are interested in pursuing this unique group of individuals.  If you child or patient has a Rett Syndrome diagnosis but no mutations please contact us.