Practical Recommendations for the Selection of Patients for Individualized Splice-Switching ASO-Based Treatments

Figure 5

Variant 2—branch point variant. Pathogenic variants disrupting the branch point can affect splicing and lead to the inclusion of a cryptic exon by activating a cryptic splice site or skipping of the canonical exon. Ultimately, this causes a loss of function of the protein. Since the canonical sequence required for correct splicing is destroyed, these variants cannot be rescued via ssASOs. The shape of the exon indicates the reading frame, and grey marked areas are protein domains.