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Deletions and duplications in DMD/BMD identified in Leiden

(last modified January 12, 2003)

Contents

Figures regarding BMD/DMD deletions and duplications

Below we present an overview of the deletions and duplications that we have detected in the DMD-gene in DMD and BMD patients analyzed in Leiden. Those for which the first (5') and last (3') exon deleted have been determined with certainty have been included in the DMD/BMD deletion/duplication database.

Disease Deletions Duplications Total
BMD 84 10 94
DMD 243 24 267
Total 327 34 361


Most frequent DMD deletion exon 45 only (16x)
Most frequent BMD deletion exons 45-47 (28x)
Most frequent B/DMD duplication exons 3-7 and 5-7 (each 2x)
Mean size of a deletion (B/DMD) 6.47 exons
Mean size of a duplication (B/DMD) 9.26 exons
Mean number of affected exons (deleted/duplicated in DMD) 6.69 exons
Mean number of affected exons (deleted/duplicated in BMD) 6.86 exons
Mean number of affected exons (deleted/duplicated in B/DMD) 6.73 exons
Most frequently deleted exon (B/DMD) exon 47 (41%)
Most frequently duplicated exon (B/DMD) around exon 20
Intron with most deletion breakpoints (B/DMD) intron 44
Intron with most 5' deletion breakpoints (B/DMD) intron 44
Intron with most 3' deletion breakpoints (B/DMD) intron 50

Extent of deletions

5' exon 3' exon in DMD in BMD
01 25 1
01 79 1
02 5   1
02 6   1
02 7   1
02 16   2
02 33 1
02 79 1
03 4   3
03 7 6 5
03 10 1
03 11 1
03 18 1
03 44 1
04 7 1
04 20 1
04 42 1
05   1
05 7 1
05 33 1
06   1
06 7 2
07   1
07 12 1
08 9 2
08 11 3
08 16 3
08 17 1
08 20 2
08 21 1
08 29 1
08 41 1
08 44 2
08 45 1
10 17 1
10 18 1
10 33   1
11 13 1
12 15 2
12 16 1
12 19 1
12 20 1
12 25 1
14 17 1
14 60 1
18 21 1
18 33 1
18 41 1
18 44 1
19 34   1
21 34 1
30     1
35 43 1
42 43   1
44   10
44 45 1
44 47 1
44 50 1
44 52 1
45   16
45 46   1
45 47 2 28
45 48 2 15
45 49   3
45 49 1
45 50 10
45 51 3
45 52 7
45 53 2 6
45 54 3 2
45 55   7
45 57 1
46 47 6
46 48 3
46 49 3
46 50 6
46 51 6
46 52 2
46 53 3 1
47   2
48 49 2 2
48 50 14
48 52 5
48 54 1
48 55   1
49 50 6
49 52 6
50   2
50 51 2
50 52 1
50 79 1
51   7
51 54 1
51 55 4
51 61 1
52   4
52 53 2
52 55 1
52 63 1
53   1
53 54 2
53 55 1
54   1
55   1
57   1
61 79 1
65 74 1
75 79   1

Extent of duplications

5' exon 3' exon in DMD in BMD
02 7 1
02 9 1
03 7 2
03 12   1
05 7 2
08   1
08 9 1
08 29 1
08 30?   1
12   1
12 13 1
13 19 1
14 36   1
14 42   1
16 34   2
17 39   1
18 52   1
22 25 1
30? 41   1
42? 44 1
44 56 1
45   1
45 50 1
46 47 1
48 60 1
50   1 1
52 55 1
55   1
56 61 1
58 59 1

Frequency of exon deletions/duplications in DMD/BMD

Exon deleted in B/DMD percentage exon deletion in B/DMD duplicated in B/DMD del or dup in DMD del or dup in BMD Total affected in B/DMD
1 4 0.01 0 4 0 4
2 10 0.03 2 8 4 12
3 26 0.08 5 19 12 31
4 29 0.09 5 22 12 34
5 30 0.09 7 27 10 37
6 32 0.1 7 30 9 39
7 32 0.1 7 31 8 39
8 34 0.1 6 37 3 40
9 34 0.1 5 36 3 39
10 36 0.11 3 34 5 39
11 36 0.11 3 34 5 39
12 38 0.12 5 38 5 43
13 36 0.11 4 36 4 40
14 37 0.11 5 36 6 42
15 37 0.11 5 36 6 42
16 35 0.11 7 34 8 42
17 28 0.09 8 28 8 36
18 29 0.09 9 29 9 38
19 29 0.09 9 28 10 38
20 27 0.08 8 25 10 35
21 23 0.07 8 21 10 31
22 21 0.06 9 20 10 30
23 21 0.06 9 20 10 30
24 21 0.06 9 20 10 30
25 21 0.06 9 20 10 30
26 19 0.06 8 18 9 27
27 19 0.06 8 18 9 27
28 18 0.06 8 17 9 26
29 18 0.06 8 17 9 26
30 18 0.06 8 15 11 26
31 17 0.05 7 15 9 24
32 17 0.05 7 15 9 24
33 17 0.05 7 15 9 24
34 13 0.04 7 12 8 20
35 12 0.04 5 12 5 17
36 12 0.04 5 12 5 17
37 12 0.04 4 12 4 16
38 12 0.04 4 12 4 16
39 12 0.04 4 12 4 16
40 12 0.04 3 12 3 15
41 12 0.04 3 12 3 15
42 11 0.03 3 11 3 14
43 12 0.04 2 11 3 14
44 22 0.07 3 24 1 25
45 121 0.37 4 62 63 125
46 133 0.41 4 73 64 137
47 134 0.41 4 75 63 138
48 121 0.37 4 87 38 125
49 112 0.34 4 94 22 116
50 109 0.33 6 97 18 115
51 84 0.26 3 70 17 87
52 74 0.23 4 61 17 78
53 48 0.15 3 35 16 51
54 32 0.1 3 25 10 35
55 22 0.07 4 18 8 26
56 7 0.02 3 10 0 10
57 8 0.02 2 10 0 10
58 6 0.02 3 9 0 9
59 6 0.02 3 9 0 9
60 7 0.02 2 9 0 9
61 7 0.02 1 8 0 8
62 6 0.02 0 6 0 6
63 5 0.02 0 5 0 5
64 4 0.01 0 4 0 4
65 5 0.02 0 5 0 5
66 5 0.02 0 5 0 5
67 6 0.02 0 6 0 6
68 6 0.02 0 6 0 6
69 6 0.02 0 6 0 6
70 6 0.02 0 6 0 6
71 6 0.02 0 6 0 6
72 5 0.02 0 5 0 5
73 5 0.02 0 5 0 5
74 5 0.02 0 5 0 5
75 5 0.02 0 4 1 5
76 5 0.02 0 4 1 5
77 5 0.02 0 4 1 5
78 5 0.02 0 4 1 5
79 5 0.02 0 4 1 5

Localization deletion breakpoints (5' end / 3' end)

Intron 5' breakpoint 3' breakpoint any breakpoint
5' of exon 1 4 - 4
1 7 1 8
2 17 1 18
3 3 0 3
4 3 2 5
5 4 1 5
6 2 2 4
7 19 17 36
8 0 0 0
9 4 2 6
10 1 1 2
11 6 4 10
12 0 2 2
13 1 1 2
14 0 0 0
15 0 2 2
16 0 7 7
17 4 3 7
18 2 2 4
19 0 2 2
20 1 5 6
21 0 2 2
22 0 0 0
23 0 0 0
24 0 0 0
25 1 3 4
26 0 0 0
27 0 1 1
28 0 0 0
29 0 1 1
30 0 0 0
31 0 0 0
32 0 0 0
33 0 4 4
34 0 2 2
35 0 0 0
36 0 0 0
37 0 0 0
38 0 0 0
39 0 0 0
40 0 0 0
41 1 2 3
42 2 1 3
43 14 4 18
44 113 13 126
45 31 18 49
46 2 1 3
47 26 39 65
48 12 21 33
49 9 12 21
50 15 40 55
51 8 18 26
52 4 29 33
53 1 17 18
54 1 11 12
55 0 15 15
56 1 0 1
57 0 2 2
58 0 0 0
59 1 0 1
60 1 1 2
61 0 1 1
62 0 1 1
63 0 1 1
64 0 0 0
65 0 0 0
66 0 0 0
67 0 0 0
68 0 0 0
69 0 0 0
70 0 0 0
71 0 1 1
72 0 0 0
73 0 0 0
74 0 1 1
75 0 0 0
76 0 0 0
77 0 0 0
78 0 0 0
3' of exon 79 - 5 5

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