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Deletion and duplication mutations in DMD/BMD identified in China

(last modified February 24, 2007)

Studies

Tianjin

In total 138 patients were screened; 90 (65%) contained deletions/duplications while 48 (35%) contained no detectable deletion or duplication.

Phenotype Deletions Duplications No detectable
del/dup		 Total
DMD 65 2 48  
BMD 14 2
IMD 4 -
too young 3 -
Total 86 4 48 138

Extent of deletions/duplications

deleted
exons		 duplicated 
exons		 in DMD in IMD in BMD
1 - 3   1    
1 - 4   1    
2 - 3       1
  2 - 6     1
2 - 7       2
2 - 19       3
3 - 7    2  (too young)
  3 - 8     1
5 - 21   1    
5 - 22 (-25 ?)   2    
6 - 17   2 ?    
6 - 18       1
7 - 17       2
7 - 18     1  
(8- ?) 9 - 17     1  
(8- ?) 9 - 19   1    
(10- ?) 11 - 40 (-41 ?)   1    
(10- ?) 11 - 42   1    
20 - 22 (-25 ?)   2    
20 - 30 (-33 ?)   2    
(25- ?) 22 - 47    2    
  38 - 44 1    
43 - 45   5    
43 - 50   6    
43 - 51     2  
43 - 52   1   2
44 - 49    1  (too young)
44 - 51   2    
44 - 52   2   2
45 - 50   3    
45 - 52   3    
45 - 53       1
47 - 53   4    
47 - 54   2    
48 - 52   9    
  48 - 52 1    
48 - 53   3    
49 - 52   3    
50 - 55   2    
50 - 58 (-59 ?)   2    
51 - 54   2    

Legend
86 deletions and 4 duplications detected in 138 patients (65%) from Tianjin (China); 94 DMD (68.1%), 8 IMD (5.8%), 31 BMD (22.5%) and 5 too young to diagnose (3.6%). Analysis included multiplex PCR (Chamberlain and Beggs sets) and Southern blotting (up to exon 60). Reported by Yuge et al. (1999), Life Sciences 65: 863-869. All mutations have been included in the DMD/BMD deletion/duplication database.

Lo

In total 138 patients were screened; 90 (65%) contained deletions/duplications while 48 (35%) contained no detectable deletion or duplication.

Phenotype Deletions Duplications point
mutation		 No change Total
DMD 11 3 11 5  30
BMD 7 1 3 4 15
IMD 5 1 9 7 22
Total 23  (34%) 5  (7.5%) 23  (34%) 16 67

Extent of deletions/duplications

deleted
exons		 duplicated 
exons		 in DMD in IMD in BMD
21
(2) 32
(2) 3 - 4 (5)1
(2) 3 - 17 (19)1
(2) 3 - 19 (41)1
(2) 3 - 441
(5) 6 (7)11
(9) 12 - 431
(14) 17 - 19 (41)11
441
45 (46)1
45 - 471
(46) 47 - 511
48 - 5012
(49) 5011
511
51 - 60 (79)1
52 - 53 (60)1
53 (60)1
53 - 60 (79)1
(54) 60 (79)1
65 - 761

Legend
23 deletions and 5 duplications detected in 67 patients from Hog Kong (China). Analysis included semi-quantitative multiplex PCR (Chamberlain and Beggs sets). DHPLC and MLPA analysis of non-deletion patients identified one deletion and one duplication each. Reported by Lo et al. (2006). All mutations have been included in the DMD/BMD deletion/duplication database.

Yang

In total 41 patients were screened (34 DMD and 7 BMD); 15 (37%) contained deletions when 11 exons were analysed using multiplex PCR.

Phenotype Deletions Duplications point
mutation		 No change Total
DMD 11     23 34
BMD 4     3 7
Total  15     26 41

Extent of deletions

deleted
exons		 in DMD/BMD
(4) 6 - 8 (12)1
(7) 8 (12)1
(7) 8 - 17 (42)1
(9) 13 - 17 (42)1
(14) 17 (42)1
(18) 43 (46)3
(48) 50 (51)1
(48) 50 - 52 (59)3

Legend
23 deletions and 5 duplications were detected in 34 DMD and 7 BMD cases from Taiwan. Analysis was performed using multiplex PCR (exons 1, 3, 6, 8, 13, 17, 43, 47, 50, 52 and 60) by Yang et al. (1994). All mutations have been included in the DMD/BMD deletion/duplication database.

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