Rett syndrome - Current status and new vistas

Rett syndrome (RS) has emerged over the past 35 years as a unique neurodevelopmental disorder of girls and women. Intense study has culminated in the identification of the gene (MECP2) responsible for most girls and women with RS. The phenotypic expression of MECP2 mutations extends well beyond RS and includes X-linked mental retardation, autistic spectrum disorder, and mild learning disability. MECP2 encodes methyl-cytosine-guanosine-binding protein 2, a key component of transcriptional regulation, particularly in neurons. As such, new vistas in developmental neurobiology have emerged from these advances in understanding this recently recognized disorder.