Leiden Muscular Dystrophy pages

Deletion/duplication mutations in DMD/BMD identified in Australia

(last modified March 4, 2007)


Taylor

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

Extent of deletions/duplications

Exons DeletionsDuplications
DMDBMDDMDBMD
12
1 - 91
1 - 441
28
2 - 41
2 - 121
2 - 131
2 - 151
311
3 - 423
3 - 63311
3 - 71121
3 - 82
3 - 91
3 - 1711
3 - 1941
3 - 341
3 - 433
3 - 471
51
5 - 71
5 - 441
6311
6 - 111
6 - 171
811
8 - 1321
8 - 1711
8 - 1921
8 - 212
8 - 441
9 - 182
9 - 192
9 - 211
9 - 251
10 - 1121
12 - 1341
12 - 1941
12 - 442
12 - 44
13 - 141
13 - 421
14 - 151
14 - 171
171
17 - 191
17 - 341
17 - 391
17 - 441
1831
18 - 211
18 - 251
1911
19 - 201
19 - 2111
19 - 451
19 - 521
211
22 - 261
22 - 431
221
28 - 291
301
341
34 - 431
34 - 511
4332
43 - 442
43 - 511
447
44 - 481
44 - 521
451521
45 - 471141
45 - 48252
45 - 4931
45 - 4?1
45 - 5010
45 - 511
45 - 521212
45 - 532
45 - 53
45 - 541
45 - 551
45 - 601
461
46 - 472
46 - 4911
46 - 501
46 - 513
46 - 524
46 - 531
46 - 541
46 - 601
474
47 - 493
47 - 502
47 - 513
47 - 523
47 - 541
483
48 - 4911
48 - 508
48 - 512
48 - 5261
49 - 5010
49 - 524
49 - 541
506
50 - 511
50 - 522
50 - 602
516
51 - 5251
51 - 532
51 - 601
528
5312
53 - 553
541
552
56 - 631
602
61 - 621
61 - 631
66 - 791

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.



| Top of page | del/dup mutations | del/dup mutation database |
| LMDp home page | Remarks / information | Copyright, liability |