Fig. 2

Electropherograms of Sanger sequences of SYNGAP1 genomic DNA (gDNA) (a) and lymphocyte cDNA (b) of a representative normal control and the patient, and schematics of splicing of the exon 10 - exon 11 region in mRNA from the normal and mutated SYNGAP1 alleles (c). The variant in intron 10 is marked by a thick red arrow. The regular exon 10 - intron 10 boundary and the new splice donor site in exon 10 are indicated by a solid black vertical line and a dashed red vertical line, respectively. Black, red, green and blue lettering in (b) and thick lines in (c) correspond to regular splicing of exon 10, aberrant splicing of exon 10, regular splicing of exon 11 and alternative splicing of exon 11, respectively. Asterisks indicate premature stop codons