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

Figure 8

Variant 5—variant disrupting a splice-regulatory element. Exonic variants can disrupt regulatory sequences that promote the canonical splicing process and lead to exon exclusion and disruption of the transcript. Therefore, an exon skipping approach is not applicable. Targeting the variant directly would also not rescue splicing, as the canonical regulatory sequence cannot perform its function. The shape of the exon indicates the reading frame, and grey marked areas are protein domains. ESE: exonic splice enhancer.