Fig. 1

MECP2 mutation in MZ twins with RTT and MeCP2 expression pattern in RTT fibroblasts. (A) Schematic representation of MECP2 gene structure and location of the MECP2 mutation. Direct sequencing of the four coding exons in the MECP2 gene detected a guanine deletion at position 806 (806delG) [27]. (B) Immunostaining for MeCP2 (red) and phalloidin (green) along with Hoechst staining (blue) of wild-type MECP2- and mutant MECP2-expressing fibroblasts. Scale bar, 100 μm. (C) Fraction of MeCP2-positive cells among wild-type MECP2- and mutant MECP2-expressing fibroblasts (n = 5 experiments; > 500 Hoechst-positive cells per experiment; *p < 0.05). WT, wild-type