TABLE 1. Potential dystrophin deletants created by exon skipping.
| Mutations found in Duchenne MD patients |
Targeted exons for skipping |
Total exon deletions |
% DMD patients w/ • deletion (s) • point mutation in deleted exons |
MD phenotype |
|---|---|---|---|---|
| Deletion exons 45–54 |
Exon 44 | Δ44–54* | 66.6 20.4 |
Mild BMD |
| Deletion exon 45 |
Exon 46 | Δ45–46 | 32.9 3.6 |
Not reported |
| Deletion exons 45–50 |
Exon 51 | Δ45–51* | 58.9 13.2 |
Asymptomatic |
| Deletion exons 48–50 |
Exon 45 + Exon 51 | Δ45–51* | 58.9 13.2 |
Asymptomatic |
| Deletion exons 46–51 |
Exon 45 | Δ45–51* | 58.9 13.2 |
Asymptomatic |
| Deletion exons 46–50 |
Exon 45 + Exon 51 | Δ45–51* | 58.9 13.2 |
Asymptomatic |
| Deletion exons 48–50 |
Exon 51 | Δ48–51 | 22.4 8.3 |
Asymptomatic |
| Point Mutation exon 49 |
Exon 49 | Δ49* | 4.5 1.0 |
BMD |
| Deletion exon 50 |
Exon 51 | Δ50–51 | 9.0 4.9 |
BMD |
| Deletion exons 51–55 |
Exon 50 | Δ50–55 | 12.4 8.8 |
Not reported |
| Deletion exon 52 |
Exon 51 | Δ51–52 | 7.1 3.5 |
BMD |
| Deletion exon 52 |
Exon 51 + Exon 53 | Δ51–53 | 8.3 4.3 |
BMD |
| Deletion exon 52 |
Exon 53 | Δ52–53 | 3.0 1.7 |
BMD |
| Δ42–55* | 68.8 20.4 |
Not found in any patient |
Asterisk(*) indicates a basis for constructs studied here.