The present invention relates to the identification of mutations in a gene encoding a methyl-CpG-binding domain containing protein or alterations in its corresponding protein in neurodevelopmental disease. The protein acts in a complex to regulate transcriptional repression through methylated CpG dinucleotides. Methods to screen mutations in said gene or alterations in said protein related to neurodevelopmental disease are provided. Methods to treat a vertebrate with said disease are also provided.
Method of screening Rett syndrome by detecting a mutation in MECP2