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Deletion mutations in DMD/BMD identified in Brazil

(last modified December 23, 2008)

Below an overview of the deletions that have been detected in the DMD-gene in DMD and BMD patients from Brazil;

Sao Paolo

Totals

Disease Deletions Duplications Total
BMD  28 ?  28
DMD 223  ?  223
Total 251 ?  251 

Extent of deletions

5' exon 3' exon in DMD in BMD
1 7 1
1 17 1
1 18  1
1 44  1
1 48  1
1 18  1
2 7 1
2 11 1
2 18 1
2 25 2
2 33 1
3 5 3
3 7 4 1
3 13 1
3 16 2
3 17 3
3 19 1
3 21 1
3 25 1
3 26 1
3 29 1
3 31 1
3 32 1
3 44 1
4 7 1
5 11 1
5 18 1
5 36 1
5 43 1
6 1
6 7 1
6 8 1
7 17 2
7 49 1
8 9 4
8 11 1
8 12 1
8 16 2
8 19 1
8 27 1
8 41 1
8 43 1
8 44 1
10 13 1
10 33 1
10 52 1
12 16 1
12 44 1
12? 51 1
13 44 1
14 41 1
14 43 1
16 21 1
17 1
18 44 1
19 43 1
21 45 1
28 29 1
30 43 1
36 43 1
40 43 2
42 43 2 1
44 6
44 47 2
44 49 1
44 50 1
44 51 1
45 9
45 46 2
45 47 5
45 48 4
45 49 4
45 50 21
45 52 3
45 54 2
46 47 10
46 48 2
46 50 3
46 51 3
46 52 1
46 52  (-79 ?) 1
46 53 3
46 55 1   
47 50 2
47 51 1
47 52 3
47 52  (-79 ?) 1
47 54 1
47 56 1
48 49 2 2
48 50 13
48 52 6
48 52  (-79 ?) 1
49 1
49 50 7
49 52 3
49 53 1
49 54 4
50 9
50 52 2
50 53 1
51 7
51 53 3
51 54 3
51 55 2
51 56 1
52 57 1
53 60  (-79 ?) 1
55 60  (-79 ?) 1

Legend
Deletions in the DMD-gene identified in DMD and BMD patients in Sao Paolo (Brazil, described in Rosenberg et al. [1998]). Deletions were detected using multiplex PCR, i.e. 18-exon Chamberlain and Beggs sets and Southern blotting using cDNA-probes upto exon 60. All mutations have been included in the DMD/BMD deletion/duplication database.

Curitiba

 Totals

Disease Deletions
2001		 Total   Deletions
2007		 Total
DMD 24  29   66 80
IMD 1 1   - -
BMD 13 13    10 10
fDMD 0 1   0 1
possible
carrier		 4 4   0 3
Total 42 48   76 94

Extent of deletions: ?

Legend
Deletions in the DMD-gene identified in DMD and BMD patients in Curitiba (Brazil, described in Werneck et al. [2001] and Freund et al. [2007] ). Deletions were detected using multiplex PCR, i.e. 18-exon Chamberlain and Beggs sets and PCR for exons 42 and 53. Samples were also analysed for immunohistochemical DMD staining; all DMD were abnormal with staining being absent in 17/29, residual in 3/29 and scattered in 9/29. Staining in the BMD patients was diffuse and reduced in 10/13, patch discontinuation in the sarcolemma in 2/13 and normal 1/13. The variants have not been included in the DMD/BMD del/dup database.

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