Figure 2

Activation of cryptic splice site at c.48C>T in MECP2 exon 1: A) ideogrammatic representation of the genomic organization of MECP2, showing the alternative pre-mRNA splicing of wild type (WT) and mutant (Mut (NM_001110792: c.48C>T)) transcripts for both isoforms, MeCP2_E1 and MeCP2_E2; B) Agarose gel electrophoresis of reverse transcription-PCR product for WT (Lane 2, 140bp) and Mut (Lane 3, 124 bp) transcripts; C) cDNA sequence chromatograms of WT (left) and Mut (right) MECP2_E1 transcripts. The MECP2 exon 1–3 boundary sequence for the WT mRNA is indicated with a blue arrow, whereas MECP2 exon 1–3 boundary sequence of the Mut mRNA is indicated with a red arrow. The 16bp sequence that is deleted in the Mut transcript between the cryptic splice junction and correct splice junction is indicated within the WT sequence using red brackets. D) Illustration of the predicted amino acid sequence of the MeCP2_E1 WT (green) and Mut (orange). The change of Glu at position 17 into Lys followed by a frameshift and introduction of a stop codon after 16 amino acids is indicated.