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DMD/BMD deletion/duplication mutations identified in Italia

(last modified June 24, 2005)

 Reports from;

Napoli

Totals

In total 108 unrelated patients (47 DMD / 61 BMD) were analysed and 89 deletions were detected. Of these 24 were de novo, i.e. not present in the mother (10 DMD / 14 BMD). Of the other deletions, 8 derived from the grand mother and 2 from the grand father. All mutations have been included in the DMD/BMD deletion/duplication database.

Phenotype Deletions Duplications No detectable
deletion		 Total
BMD 48   13 61
DMD 41   6 47
Total  89   19 108

Extent of deletions

deleted exons

 BMD

DMD
011
03 - 041
03 - 073
03 - 131
06 - 191
08 - 161
12 - 131
12 - 481
13 - 441
19 - 211
19 - 501
28 - 491
30 - 512
44 - 471
443
45 - 462
45 - 478
45 - 488
45 - 492
45 - 502
45 - 516
45 - 521
45 - 531
45 - 554
4521
46 - 471
46 - 482
46 - 491
46 - 501
48 - 492
48 - 505
48 - 513
48 - 531
48 - 541
483
49 - 511
49 - 521
50 - 511
50 - 521
501
51 - 531
513
521
53 - 541
531

Legend
89 deletions identified in a detailed analysis of 108 unrelated patients (47 DMD / 61 BMD) Carsana et al (2005), mainly from Napoli. Deletions were detected using a 24-multiplex PCR and borders were defined with specific exon PCR. All utations have been added to the DMD deletion/duplication database.

Milano

Totals

In total 35 patients were screened; 11 (31%) contained deletions while 24 (69%) contained no detectable deletion. All mutations have been included in the DMD/BMD deletion/duplication database.

Phenotype Deletions Duplications No detectable
deletion		 Total
BMD
(10 from 4 families;
4 and 3 x 2)		 49 - 10 59
Total        

Extent of deletions

deleted exons

DMD / BMD
patient
3 - 21 1
6 - 8 1
10 - 37 1
12 4 (one family)
12 - 21 2
12 - 22 1
12 - 34 1
13 - 21 1
13 - 34 1
13 - 41 2
13 - 44 1
16 - 29 1
32 - 42 1
32 - 44 1
42 - 43 1
42 - 44 1
43 1
45 - 46 1
45 - 47 6
45 - 48 5
45 - 49 2
45 - 51 2
45 - 52 3
47 - 60 1
48 - 49 1
48 - 51 1
48 - 52 3
50 - 51 1
52 1

Legend
Deletions identified in a detailed analysis of 59 BMD-patients Morandi et al (1995), mainly from Milano. Deletions detected using 30-multiplex PCR, i.e. 22-exon Chamberlain and Beggs sets (Chamberlain 4, 8, 12, 17, 19, 20, 22, 29, 44, 45, 48 and 51 and Beggs 1m, 3, 6, 13, 21, 43, 47, 50, 52, 60) and 8-exon Covone et al. (1992) for exons 1c, 16, 32, 34, 41, 42, 46 and 49. Mutations have not yet been added to the DMD deletion/duplication database.

Genova

Totals

In total 127 DMD/BMD patients were screened; 73 (57%) contained deletions while 64 (43%) contained no detectable deletion. All mutations have been included in the DMD/BMD deletion/duplication database.

Phenotype Deletions Duplications No detectable
deletion		 Total
BMD 7      
DMD 52      
too young 14      
Total  73   64 127

Extent of deletions

deleted exons

 DMD DMD/BMD
(too young)

BMD
1 - 2 1    
1 - 60   1  
2 - 7 1    
3 - 4 1    
3 - 7 2    
3 - 15 1    
3 - 35   1  
(j) 4 - 13   1  
5 - 36   1  
6 - 7 1    
8 - 18 1    
(j) 8 - 33 1    
16 1    
18 - 25 1    
22 - 23 (24j) 1    
28 - 43 1    
40 -42 1    
42 - 43   1  
43 - 44   1  
43 - 51 1    
44 - 51 2    
44 - 52 1    
45 3    
45 - 46 1    
45 - 47     3
45 - 48     2
45 - 50 2 1  
45 - 52 5    
46 - 47 4    
46 - 48 1 1 1
46 - 51   1  
46 - 52   1  
46 - 55   1  
47 - 48   1  
47 - 50 1    
47 - 51   1  
47 - 52 1 1  
(j) 48 1    
48 - 49     1
48 - 50 3    
48 - 52 2    
48 - 54 1    
49 - 52 1    
49 - 53 1    
50 2    
51 1    
51 - 53   1  
52 1    
52 - ? 1    

Legend
Deletions identified in a detailed analysis of 127 DMD/BMD-patients Covone et al (1991), mainly from Genova. Deletions detected using Southern blotting using HindIII- and PstI-digests. All mutations have not been added to the DMD deletion/duplication database.

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