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Deletion mutations in DMD/BMD identified in Bulgaria (Sofia)

(last modified July 8, 2003)


Below an overview of the deletions that have been detected in the DMD-gene in DMD and BMD patients in Sofia (Bulgaria). The changes have been contributed by dr. Albena Todorova (Laboratory of Molecular Pathology,  Hospital of Obstetrics and Gynaecology; full address). All deletions have been included in the DMD/BMD deletion/duplication database.


Totals

In total 183 unrelated patients were screened; 122 (67%) contained deletions while 61 (33%) contained no detectable deletion. 

Phenotype Deletions Duplications No detectable
deletion
Total
DMD 92  ? 61  
IMD 6 ?
BMD  24 ?
Total 122 ? 61 183

Extent of deletions


Deletion DMD
patients
BMD
patients
IMD
patients
1 1    
1-47 1    
3 1 1  
3-7 1 1 1
3-11 1    
3-21 (-24 ?) 1    
4-12 1    
5-6 1    
6   1  
6-7 1    
(7? -) 8-43 1    
8-42 1    
11-44   1  
12-29 (-31?) 1    
12-34 (-40?) 1    
12-43 1    
12-45 1    
13-50 1    
(14? -) 17 (-18?) 1    
17 (-18?) 1    
(18? -) 19-21 (-42?) 1    
(18? -) 19 (-20?) 1    
(30? -) 32-43 1    
(35? -) 41-45 1    
42-43 1    
44 5    
45   2  
45 (-46 ?) 1    
45-47   6  
45-48   7  
45-49   2  
45-50 3    
45-51 1 1 1
45-52 3    
45-52 (-59 ?)   1  
45-54 2    
46-50 1    
46-51 2    
(46?- ) 47 1    
(46? -) 47-50 1    
(46? -) 47-51 1   1
(46? -) 47-54 (-59 ?) 1    
47-50     1
48 1 1  
48-50 7   1
48-51 3    
49-50 8    
49-51 3    
49-52 3    
49-54 1    
50 2    
50-52 3    
51 4   1
51-52 4    
51-54 1    
51-55 1    
52 4    
53 1    
53-54 1    

Legend
Deletions in the DMD-gene identified in DMD / BMD patients in Sofia (Bulgaria). Deletions were detected using multiplex PCR (Set I: exons 3, 6, 8, 45, 48 and 50; Set II: exons 4, 12, 13, 17, 19 and 60; Set III: exons 43, 44, 47, 49, 51 and 52), based on the 18-exon Chamberlain and Beggs sets. In addition, to determine deletion borders in specific cases, presence of exon(s) 1m, 2, 5, 7, 9, 10, 11, 16, 21, 25, 29, 32, 34, 41, 42, 46, 53, 54, 55, 56, 57 or 59 was tested directly in a PCR.



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