Figure 1.

In vitro splicing assays for p.E2496E and p.V382M mutations. Gel electrophoresis shows the different splicing processes for WT minigene and mutants constructions. COS-7 cells transfection experiments were performed in duplicate. Numbers at the bottom of gels indicate the proportion (%) of misspliced transcripts compared to the full-length transcript. For the p.E2496E mutation, an evident increase of band b (corresponding to the aberrant transcript that only contains 37pb of the exon 40) can be observed with regard to the WT minigene expression product. For the p.V382M variant a small increase of the exon 7 skipping in the mutant minigene expression is observed (band d).