<i>Methyl-CpG-binding protein 2</i> (<i>MECP2</i>) mutation type is associated with disease severity in Rett syndrome

Abstract

We have confirmed that MECP2 mutation type is a strong predictor of disease severity. These data also indicate that clinical severity continues to become progressively worse regardless of initial severity. These findings will allow clinicians and families to anticipate and prepare better for the needs of individuals with RTT.