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Deletion/duplication mutations in DMD/BMD identified in Canada

(last modified March 4, 2007)

Studies

Stockley

In total 165 patients were screened, 108 DMD and 57 BMD patients. Of the DMD patients 79 (73%) had a deletion and 12 (11%) a duplication. Of the BMD patients 31 (54%) had a deletion and 3 (5%) a duplication. 

Phenotype Deletions Duplications Point
mutation		 No detectable
del/dup		 Total
DMD 79 12 15 2 108
BMD 31 3 3 20 57
Total 110 15 18 22 165

Extent of deletions/duplications

ExonsDeletionsDuplications
01c-181 DMD
21 BMD
2 - 71 BMD
2 - 621 DMD
3 - 41 BMD
3 - 61 BMD 
3 - 71 DMD
1  BMD		1 DMD
3 - 261 DMD
3 - 291 DMD
5 - 71 DMD
5 - 111 DMD
6 - 71 DMD
6 - 411 DMD
7 - 111  DMD 
7 - 201 DMD 
8 - 9 1 DMD
8 - 112 DMD 
9 - 181 DMD
10 - 112 DMD 
11 - 251 BMD
12 - 291 DMD
171 DMD
17 - 191 DMD
17 - 511 DMD
18 - 291 DMD
20 - 221 DMD
31 - 441 BMD
321 BMD
382 DMD
448 DMD
1 BMD		2 DMD
44 - 481 DMD
453 DMD
1 BMD
45 - 461 DMD
45 - 471 DMD
14 BMD
45 - 481 DMD
5 BMD
45 - 491 BMD
45 - 506 DMD
45 - 522 DMD
45 - 541 DMD
45 - 551 DMD
46 - 475 DMD
46 - 481 DMD
46 - 501 BMD
46 - 513 DMD
46 - 522 DMD
47 - 501 DMD
48 - 491 BMD
48 - 522 DMD
49 - 504 DMD
49 - 541 DMD
501 DMD
50 - 522 DMD
516 DMD1 DMD
51 - 531 DMD
51 - 551 BMD
52 - 561 DMD
53 - 551 DMD
53 - 571 DMD
551 DMD
611 DMD
63 - 791 DMD
64 - 671 BMD1 DMD

Legend
The mutations listed have been published by Stockley et al.2006, determined using quantitative multiplex PCR covering all 79 exons of the DMD-gene. All mutations have been included in the DMD/BMD deletion/duplication database.

Gillard

  DMD IMD BMD unknown
(too young)		 Totals
deletion listed 38 10 9 23 80
not listed         29
duplication 6 2 2 - 10  (6 %)
no change         62
Totals         181
ExonsDeletionsDuplications
2 - 7 1 BMD
3 - 4 1 DMD (j), 1 IMD
3 - 42DMD 
3 - 43DMD 
3-11 1 DMD
6 (j) 1 DMD
11 - 43DMD 
20 - 41 (j) 1 IMD
(22 - 27) (j) 1 BMD
22 - 44DMD 
28 - 61DMD/BMD 
38 - 43 (j) 1 DMD
43DMD 
444 DMD 
44 - 54DMD 
453 DMD, 3 IMD, BMD, 5 DMD/BMD 
45 - 473 BMD, DMD/BMD 
45 - 483 BMD, DMD/BMD 
45 - 492 BMD, DMD/BMD 
45 - 503 DMD, IMD, DMD/BMD 
45 - 51DMD/BMD1 DMD
46 - 47DMD 
46 - 49DMD, IMD 
46 - 502 DMD, IMD 
46 - 513 DMD, IMD, DMD/BMD 
46 - 52DMD/BMD 
46 - 53DMD 
46 - 54DMD 
46 - 55IMD 
46 - 60DMD 
48IMD 
48 - 503 DMD/BMD 
48 - 522 DMD, IMD, 2 DMD/BMD 
48 - 53DMD/BMD 
49 - 502 DMD, DMD/BMD 
49 - 51DMD 
49 - 52DMD/BMD 
50 - 52 (j) 1 DMD
50 - 53DMD 
51 - 53DMD 
512 DMD, DMD/BMD 
51 - 53DMD/BMD 
51 - 60DMD 
52DMD 
53DMD 

Legend
DMD gene deletion/duplication data determined on 181 DMD / BMD patients from Canada. Deletions were described in Gillard et al. (1989); only the 80 of the 109 deletions in the 3' hotspot are shown. Duplications for 72 non-deletion patients were determined by Hu et al. (1990). Analysis was performed using Southern blotting, largely based on the analysis of HindIII and EcoRI-fragments (some also on PstI-digests). All mutations have been included in the DMD/BMD deletion/duplication database.

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