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

Figure 6

Variant 3—intronic cryptic splice site variant. Deep intronic variants can create or activate a cryptic splice site, leading to the integration of part of the intron (cryptic exon) into the mRNA and an early truncation. By targeting the cryptic splice site with ssASOs, it is possible to mask the cryptic splice site and restore the full-length native transcript and, thus, expression of the canonical protein. The shape of the exon indicates the reading frame, and grey marked areas are protein domains.