The UMD-DMD France mutations database
Large-deletions potentially rescuable by mono-exon skipping
List of patients with macrodeletion rescuable by mono-exon skipping
For each mono-skipping of a specific exon (column #1) are displayed the number of DMD patients that could theoretically be rescued by this therapeutic approach (column #2). The various corresponding deletions are shown in column #3 as well as the number of patients harboring this deletion (column #4) and their unique ID (column #5).
If patients naturally harboring the deletion produced by the mono-skipping are present in the database, they will be used for the category definition (see table below). Their ID is shown in column #7. An (*) indicates that the deletion could theoretically be rescued by mono-skipping of the 5' or 3' exon.
| Legend | Therapeutic impact |
|---|
| Exon skipping with a junctional impact being a STOP codon | None |
| Exon skipping with an ALLOSEMANTIC junctional impact. Such protein has never been reported in patients | Strong |
| Exon skipping with an ISOSEMANTIC junctional impact. Such protein has never been reported in patients | Very Strong |
| Exon skipping leading to a protein found EXCLUSIVELY in DMD patients | None |
| Exon skipping leading to a protein found in DMD and BMD patients | Moderate to Strong |
| Exon skipping leading to a protein found EXCLUSIVELY in BMD patients | Very Strong |
| Exon number | Number of patients potentially rescuable by skipping of this exon | Mutation | Number of patients with this mutation | Samples ID | Junctional impact | Patients with spontaneous similar deletion in the UMD-TREAT_DMD database |
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