Leiden Muscular Dystrophy pages

Deletion mutations in DMD/BMD identified in Yugoslavia

(last modified July, 2004)


Totals

In total 166 unrelated patients from Serbia and Montenegro (Yugoslavia) were screened by the Mother and Child Health Institute of Serbia, Belgrade; 92 (55%) contained deletions while 74 (45%) contained no detectable deletion.
In total 44 unrelated patients from Serbia and Montenegro (Yugoslavia) were screened by the Faculty of Medicine, Belgrade; 16 (36%) contained deletions while 28 (64%) contained no detectable deletion.
All mutations have been included in the DMD/BMD deletion/duplication database.

Phenotype Deletions Duplications No detectable
deletion
Total
DMD Mother and Child Health Institute of Serbia 84 ? 74 166
BMD Mother and Child Health Institute of Serbia 8 ?
DMD Faculty of Medicine 8 ? 28 44
BMD Faculty of Medicine 8 ?
Total 108 ? 102 210

Extent of deletions

Please note: Six of the BMD mutations below have been reported by I. Novakovic et al., ICHG-meeting 2001, Wien, Abstract P1500. Eur.J.Hum.Genet. 9: 395 (E-mail: llukovic@eunet.yu).


Mother and Child Health Institute of Serbia, Belgrade

deleted exons in DMD in BMD
Pm - Pb 1  
(2- ?) 3 - 6 (-7 ?) 3 2
(2- ?) 3 - 8 1  
(2- ?) 3 - 16 1  
(2- ?) 3 - 19 (-29 ?) 4  
(2- ?) 3 - 44 1  
(5- ?) 6 (-7 ?) 1  
(5- ?) 6 - 19 (-29 ?) 1  
(7- ?) 8 - 13 (-15 ?) 1  
(7- ?) 8 - 19 (-29 ?) 1  
(10- ?) 12 - 43 1  
13 (-15 ?)   1
13 - 42 1  
(20- ?) 30 - 41 1  
42 - 43 1  
44 5  
44 - 47 2  
45 3 1
45 - 46 1  
45 - 47   4
45 - 49 1  
45 - 52 2  
45 - 53 (-59 ?) 2  
46 - 47 3  
46 - 50 2  
46 - 51 2  
46 - 52 2 1
47 2  
47 - 50 1  
47 - 51 1  
47 - 53 (-59 ?) 1  
48 - 49 1  
48 - 50 6  
48 - 52 2  
48 - 53 (-59 ?) 1  
49 - 50 6  
49 - 52 2  
49 - 53 (-59 ?) 1  
50 2  
50 - 52 1  
50 - 53 (-59 ?) 2  
51 5  
51 - 53 (-59 ?) 1  
52 2  
53 (-59 ?) 2  

Legend
Deletions in the DMD-gene identified in DMD / BMD patients in Serbia and Montenegro (Yugoslavia). In a total of 166 patients, 92 patients (55%) were found to have deletions. Deletions were detected using 27-exon multiplex PCR (Chamberlain, Beggs, Kunkel and Abbs sets) and PCR for exons 9, 17 and 30.


Faculty of Medicine, Belgrade

deleted
exons
duplicated
exons
in DMD (B/DMD) in BMD
Pm - 19 (-29 ?)   1    
3 - 4       1
5 - 9       1
9 - 12     1  
13       1
44   1    
45   1    
45 - 47       2
45 - 48     1  
45 - 53       2
46 - 50   2    
46 - 53 (-59 ?)       1
49 - 50   1    
51 - 53 (-59 ?)   2    
  53   1  
65 - 67     1  

Legend
Deletions in the DMD-gene identified in DMD / BMD patients in Serbia and Montenegro (Yugoslavia). Deletions were detected using 27-exon multiplex PCR (Chamberlain, Beggs, Kunkel and Abbs sets) and PCR for exons 9, 17 and 30. Some of the patients were analysed using MAPH/MLPA.



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