Table 3.
Patients Who Expect to Benefit from Specific-Mutations Treatment
| Type of Mutation | Consequence | Exons | DNA Mutation | Protein | Exon Skipping | Drug |
|---|---|---|---|---|---|---|
| Large deletion | Outframe | 49 to 52 | c.7099_7660del | p.Glu2367Leufs*22 | 53 | Golodirsen |
| Large deletion | Outframe | 45 to 52 | c.6439_7660del | p.Glu2147Leufs*22 | 53 | Golodirsen |
| Large deletion | Outframe | 52 | c.7543_7660del | p.Ala2515Leufs*22 | 53 | Golodirsen |
| Large deletion | Outframe | 48 to 50 | c.6913_7309del | p.Val2305Leufs*9 | 51 | Eteplirsen |
| Large deletion | Outframe | 50 | c.7201_7309del | p.Arg2401Leufs*9 | 51 | Eteplirsen |
| Nonsense | Premature codon stop | 14 | c.1663C>T | p.Gln555* | NA | Ataluren |
| Nonsense | Premature codon stop | 19 | c.2299G>T | p.Glu767 | NA | Ataluren |
| Nonsense | Premature codon stop | 19 | c.2365G>T | p.Glu789* | NA | Ataluren |
| Nonsense | Premature codon stop | 39 | c.5561C>T | p.Gln1785* | NA | Ataluren |
| Nonsense | Premature codon stop | 43 | c.6238C>T | p.Gln2080* | NA | Ataluren |
| Nonsense | Premature codon stop | 34 | c.4804G>T | p.Gly1602* | NA | Ataluren |
| Nonsense | Premature codon stop | 51 | c.7437G>A | p.Trp2479* | NA | Ataluren |
| Nonsense | Premature codon stop | 19 | c.2299G>T | p.Glu767* | NA | Ataluren |
Note: *Stop codon.