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

Figure 9

Variant 6—variant leading to an early truncation (nonsense and frameshift variants). Nonsense variants and small indels that are not a multiple of 3 can lead to the generation of an early stop signal in the mRNA transcript and no protein production. The variant-containing exon can be targeted via ssASOs to remove it from the transcript to restore the reading frame. This allows the production of a truncated, partially functional protein. The shape of the exon indicates the reading frame, and grey marked areas are protein domains.