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DMD/BMD deletion/duplication mutations identified in the UK

(last modified June 4, 2004)

Reports from;

Newcastle upon Tyne

Total

Phenotype no change
detected		 Deletions Duplications Total
DMD -  - - -
BMD  8 33 2 43

Total

 - - - -

Extent of deletions

Exons Deletions Duplications
BMD BMD
8 (maybe more) 1
(sporadic)		  
13 - 47 1
(sporadic)		  
14 - 26 1
(familial)
(cDNA30-2)   1
(sporadic)
45 - 47 17
(10 sporadic,
7 familial) 		 
45 - 48 7
(3 sporadic,
4 familial)		  
45 - 49 5
(4 sporadic,
1 familial)		  
45 - 54 (55) 1 j
(sporadic)		  
48 - 59 1
(sporadic)		  

Legend
DMD gene deletion data determined on a set of 65 BMD patients from 43 families (Bushby et al. [1993], Newcastle upon Tyne). Mutations were detected using multiplex PCR and Southern blotting (HindIII-digests). All mutations have been included in the DMD/BMD deletion/duplication database.

Cardiff / Manchester

Totals

Phenotype no change
detected		 Deletions Duplications Total
DMD -  - - -
BMD  16 41 1 58

Total

 - - - -

Extent of deletions

Exons Deletions Duplications
BMD BMD
3 - 7 3  
10   1
10 - 16 1  
13 1  
38 - 43 1  
45 1  
45 - 47 20  
45 - 48 4  
45 - 49 4  
45 - 51 2  
45 - 53 1  
45 - >53 2  

Legend
DMD gene deletion/duplication data determined on a set of 58 BMD patients / families (Norman et al. [1990], Cardiff / Manchester). Mutations were detected using Southern blotting (HindIII-, PstI and MspI-digests). All mutations have been included in the DMD/BMD deletion/duplication database.

London

Total    (Hodgson et al. [1992])

Phenotype no change
detected		 Deletions Duplications Total
DMD ? 26 1  
IMD ? 4    
BMD  ? 13    
DMD/BMD
(too young)		 ? 38 1  

Total

 ? 81 2 (164 cases, Incl. related)

Extent of deletions

Exons DMD IMD BMD DMD/BMD
1 - 13 1      
3 - 7   6 4  
3 - 11     1 1 dup
3 - 13 1      
3 - 20       1
3 - 29       1
3 - 36 1      
5   1    
5 - 7       1
5 - 9 1      
5 - 16 2     1
8 - 9 4 1   2
8 - 12        2
8 - 17 1      
8 - 21   1    
8 - 45 1      
10 - 11 1      
10 - 13       1
10 - 15       2
10 - 33     1  
10 - 43 1      
10 - 44     1  
12 - 43     1  
12 - 44       2
12 - 45       1
13     1  
17 1 dup      
17 - 20 1      
19 - 49 1      
37 - 44   1    
38 - 43 1      
38 - 42       1
40 - 43       1
42   1    
42 - 43 1   1 3
42 - 52 1      
44 4     7
44 - 48     1  
44 - 52       1
44 - 53 1      
45 5 1   8
45 - 47     5  
45 - 47     4 2
45 - 48 2 1 2  
45 - 49     2  
45 - 50 2      
45 - 51 1      
45 - 52 2      
46 - 47 6     3
46 - 48 2     2
46 - 49 5      
46 - 50       3
46 - 59 1      
46 - 60 1      
47       1
48   1 1  
48 - 49     1  
48 - 50 6     2
48 - 51 1      
48 - 52 4     1
48 - 53 1     1
48 - 54 1      
48 - 55 1      
49 2      
49 - 50 1     7
49 - 52 4      
49 - 53 2      
49 - 54 2     1
50 3      
50 - 51   1   2
50 - 52 1      
51 3 1   1
51 - 52 1      
51 - 53 1      
51 - 54 2     1
51 - 55 1      
52 2     3
52 - 53 1      
53       2
53 - 54 1     1
56 - 62 1      
61 - 62       1

Legend
DMD gene deletion data determined on a set 451 males affected with DMD or BMD (287 in Hodgson et al. [1989], 164 cases (incl. relatives) in Hodgson et al. [1992], London). Mutations were detected using Southern blotting (HindIII-digests). All mutations have been included in the DMD/BMD deletion/duplication database.

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