Fig. 1

Outline of study design. a Localization of MECP2 mutations for the three Rett syndrome patients included in this study. Boxes represent MECP2 exons, and the different colors display distinct protein domains. NTD: N-terminal domain, MBD-methyl binding domain, ID-intervening domain, TRD- transcriptional repression domain, CTD- C-terminal domain. Yellow line- nuclear localization signal. b Schematic representation of microarray and RNA-seq data generated for the 3 Rett syndrome cases and 4 controls. F-frontal cortex, T-temporal cortex. c MECP2 expression levels measured by RNA-seq. Y-axis displays normalized RNA-seq counts. No statistically significant difference was observed between Rett syndrome cases and controls