Figure 3.

Normal splicing of exon 32 is illustrated in the top portion of the figure. Schematic representation of exon 32 skipping is shown at the lower portion. A 16% acrylamide gel run of the PCR products from cDNA shows the normal splice product of 405 base-pairs and a splice variant band of 310 base-pairs that results in the addition of 8 amino acids followed by a stop codon. The predicted protein size is 1496 amino acids compared to normal (2261 amino acids). Lane 1 (control), Lane 2 (proband). Note the constitutive splicing in control lane as well as affected. Referent 50 base-pair ladder is shown in lane 3. Sequence of aberrant splicing shown at bottom of figure.