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Deletion mutations in DMD/BMD identified in BelgiŽ (Leuven)

(last modified October 14, 2004)


Below an overview of the deletions/duplications that have been detected in the DMD-gene in DMD and BMD patients in Leuven (BelgiŽ). The changes have been contributed by dr. Gert Matthijs in collaboration with Annemie Meertens (Center for Human Genetics, University of Leuven; full address). The changes have been included in the DMD-gene deletion/duplication database.


Totals

Of the DMD / BMD patients analysed 121 contained a detectable change; 99 a deletion, 11 a duplication, 1 a triplication and 10 a point mutation (see DMD-gene point mutation database).

Extent of deletions

Exons involved deletion duplication triplication
cDNA9-7 1    
2     1
2 - 7   2  
(?2) 3 - 8 (11?) 1    
3 - 6 1    
3 - 8 1    
3 - 11   1  
3 - 13 1    
5 1    
5 - 11 1    
6 1    
6 - 7 1    
6 - 18 1    
6 - 19 1    
6 - 28 1    
7 1    
8 1    
8 - 9 1 2  
8 - 41 1    
8 - 52   1  
12 - 15 1    
12 - 19 1    
13 - 19   1  
14 - 15 1    
17   1  
17 - 43 1    
20 - 34 1    
cDNA4.5a/5b-7 1    
cDNA5b-7/8 1    
43 1    
44 4    
44 - 50 3    
44 - 53 1    
45 4    
45 - 47 4    
45 - 48 5    
45 - 50 2    
45 - 52 2    
46 - 48 1    
46 - 50 2    
46 - 55 1    
46 - 79 1    
cDNA8 5    
cDNA8/cf56b 3    
cDNA56cfb 1    
47 - 48 1    
47 - 50 7
(1 junction)
   
47 - 51 1    
47 - 52 1    
47 - 53 1    
48 6    
48 - 50 4    
48 - 52 2    
48 - 54 1    
DMD49 1    
49 1    
49 - 50 1    
50 2    
50 - 52 2    
51 2    
52 1    
53 - 55   1  
53 - 57   1  
61 - 65 1    
62 - 76 1    
64 - 79   1  

Legend
Deletions in the DMD-gene identified in DMD / BMD patients in Leuven (BelgiŽ). Deletions were detected initially using multiplex PCR (Chamberlain and Beggs sets) and Southern blotting. Recently, DMD-gene MLPA analysis was used to detect deletions and duplications. For cDNA descriptions see DMD cDNA probes.



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