Rett syndrome (RS) is an X-linked neurodevelopmental disorder and the second most
common cause of genetic mental retardation in females. Different mutations in MECP2 are
found in up to 95% of typical cases of RS. This mainly neuronal expressed gene functions as
a major transcription repressor. Extensive studies on girls who have RS and mouse models
are aimed at finding main gene targets for MeCP2 protein and defining neuropathologic
changes caused by its defects. Studies comparing autistic features in RS with idiopathic …