(last modified March 4, 2007)
In total 481 families were screened, 394 DMD and 87 BMD patients (Taylor et al.2007). Of the DMD patients 228 (58%) had a deletion, 55 (14%) a duplication and 96 a point mutation (24% - in 15 no mutation could be found (4%). Of the BMD patients 51 (59%) had a deletion, 8 (9%) a duplication and 12 a point mutation (14% - in 16 no mutation could be found (18%). Point mutation analysis was performed by sequencing every exon.
| Phenotype | Deletions | Duplications | Point mutation |
No detectable del/dup |
Total |
|---|---|---|---|---|---|
| DMD | 228 | 55 | 96 | 15 | 394 |
| BMD | 51 | 8 | 12 | 16 | 87 |
| Total | 279 | 63 | 108 | 31 | 481 |
| Exons | Deletions | Duplications | ||
|---|---|---|---|---|
| DMD | BMD | DMD | BMD | |
| 1 | 2 | |||
| 1 - 9 | 1 | |||
| 1 - 44 | 1 | |||
| 2 | 8 | |||
| 2 - 4 | 1 | |||
| 2 - 12 | 1 | |||
| 2 - 13 | 1 | |||
| 2 - 15 | 1 | |||
| 3 | 1 | 1 | ||
| 3 - 4 | 2 | 3 | ||
| 3 - 6 | 3 | 3 | 1 | 1 |
| 3 - 7 | 1 | 1 | 2 | 1 |
| 3 - 8 | 2 | |||
| 3 - 9 | 1 | |||
| 3 - 17 | 1 | 1 | ||
| 3 - 19 | 4 | 1 | ||
| 3 - 34 | 1 | |||
| 3 - 43 | 3 | |||
| 3 - 47 | 1 | |||
| 5 | 1 | |||
| 5 - 7 | 1 | |||
| 5 - 44 | 1 | |||
| 6 | 3 | 1 | 1 | |
| 6 - 11 | 1 | |||
| 6 - 17 | 1 | |||
| 8 | 1 | 1 | ||
| 8 - 13 | 2 | 1 | ||
| 8 - 17 | 1 | 1 | ||
| 8 - 19 | 2 | 1 | ||
| 8 - 21 | 2 | |||
| 8 - 44 | 1 | |||
| 9 - 18 | 2 | |||
| 9 - 19 | 2 | |||
| 9 - 21 | 1 | |||
| 9 - 25 | 1 | |||
| 10 - 11 | 2 | 1 | ||
| 12 - 13 | 4 | 1 | ||
| 12 - 19 | 4 | 1 | ||
| 12 - 44 | 2 | |||
| 12 - 44 | ||||
| 13 - 14 | 1 | |||
| 13 - 42 | 1 | |||
| 14 - 15 | 1 | |||
| 14 - 17 | 1 | |||
| 17 | 1 | |||
| 17 - 19 | 1 | |||
| 17 - 34 | 1 | |||
| 17 - 39 | 1 | |||
| 17 - 44 | 1 | |||
| 18 | 3 | 1 | ||
| 18 - 21 | 1 | |||
| 18 - 25 | 1 | |||
| 19 | 1 | 1 | ||
| 19 - 20 | 1 | |||
| 19 - 21 | 1 | 1 | ||
| 19 - 45 | 1 | |||
| 19 - 52 | 1 | |||
| 21 | 1 | |||
| 22 - 26 | 1 | |||
| 22 - 43 | 1 | |||
| 22 | 1 | |||
| 28 - 29 | 1 | |||
| 30 | 1 | |||
| 34 | 1 | |||
| 34 - 43 | 1 | |||
| 34 - 51 | 1 | |||
| 43 | 3 | 2 | ||
| 43 - 44 | 2 | |||
| 43 - 51 | 1 | |||
| 44 | 7 | |||
| 44 - 48 | 1 | |||
| 44 - 52 | 1 | |||
| 45 | 15 | 2 | 1 | |
| 45 - 47 | 1 | 14 | 1 | |
| 45 - 48 | 2 | 5 | 2 | |
| 45 - 49 | 3 | 1 | ||
| 45 - 4? | 1 | |||
| 45 - 50 | 10 | |||
| 45 - 51 | 1 | |||
| 45 - 52 | 12 | 1 | 2 | |
| 45 - 53 | 2 | |||
| 45 - 53 | ||||
| 45 - 54 | 1 | |||
| 45 - 55 | 1 | |||
| 45 - 60 | 1 | |||
| 46 | 1 | |||
| 46 - 47 | 2 | |||
| 46 - 49 | 1 | 1 | ||
| 46 - 50 | 1 | |||
| 46 - 51 | 3 | |||
| 46 - 52 | 4 | |||
| 46 - 53 | 1 | |||
| 46 - 54 | 1 | |||
| 46 - 60 | 1 | |||
| 47 | 4 | |||
| 47 - 49 | 3 | |||
| 47 - 50 | 2 | |||
| 47 - 51 | 3 | |||
| 47 - 52 | 3 | |||
| 47 - 54 | 1 | |||
| 48 | 3 | |||
| 48 - 49 | 1 | 1 | ||
| 48 - 50 | 8 | |||
| 48 - 51 | 2 | |||
| 48 - 52 | 6 | 1 | ||
| 49 - 50 | 10 | |||
| 49 - 52 | 4 | |||
| 49 - 54 | 1 | |||
| 50 | 6 | |||
| 50 - 51 | 1 | |||
| 50 - 52 | 2 | |||
| 50 - 60 | 2 | |||
| 51 | 6 | |||
| 51 - 52 | 5 | 1 | ||
| 51 - 53 | 2 | |||
| 51 - 60 | 1 | |||
| 52 | 8 | |||
| 53 | 1 | 2 | ||
| 53 - 55 | 3 | |||
| 54 | 1 | |||
| 55 | 2 | |||
| 56 - 63 | 1 | |||
| 60 | 2 | |||
| 61 - 62 | 1 | |||
| 61 - 63 | 1 | |||
| 66 - 79 | 1 | |||
Legend
The mutations listed have been published by Taylor et
al.2007,
determined using either multiplex-PCR, quantitative fluorescent multiplex PCR or
MLPA.
All mutations
have been included in the DMD/BMD deletion/duplication database.
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