Leiden Muscular Dystrophy pages

Deletion mutations in DMD/BMD identified in Japan

(last modified October 10, 2003)


Data are available from;


Kobe University Graduate School of Medicine

deleted exons deletions duplications
3 1 BMD
3 - 5 1 DMD
3 - 7 1 BMD
4 - 6 1 DMD
6 - 7 1 DMD
8 1 DMD
8 - 9 1 DMD
8 - 15 1 DMD
8 - 47 1 DMD
10 - 44 1 BMD
12 1 DMD
12 - 17 1 DMD
16 2 DMD
19 - 20 1 DMD
21 - 44 1 DMD
44 2 DMD
45 1 DMD
45 - 46 1 BMD
45 - 47 1 BMD
46 2 DMD
46 - 50 1 DMD
46 - 52 2 DMD
46 - 54 1 DMD
47 - 48 1 DMD
47 - 51 1 DMD
47 - 52 1 BMD
47 - 54 1 DMD
48 - 50 2 DMD, 
1 BMD
48 - 52 4 DMD
48 - 54 1 DMD
49 - 60 1 DMD
50 4 DMD
50 - 51 2 DMD
51 1 DMD
51 - 53 1 DMD
52 1 DMD
53 - 54 1 DMD
56 1 DMD

Legend
Analysis of 87 Japanese patients by Adachi et al (2002) from 76 families (66 DMD and 10 BMD cases) revealed 69 mutations (89.5%). Deletions were detected in 46 families (60.6%, 40 DMD / 6 BMD), duplications in 5 families (6.6%, 4 DMD, 1 BMD). Deletions / duplications were identified using PCR and Southern blot analysis, point mutations using RT-PCR and direct sequencing. All deletions / duplications have been included in the DMD/BMD deletion/duplication database. In addition, 17 point mutations were found (15 nonsense and 2 splice site mutations (see DMD database).


National Center of Neurology and Psychiatry, Kodaira, Tokyo

deleted exons deletions duplications
2
3 - 5
3 - 7
4 - 6
6 - 7
8
8 - 9
8 - 15
8 - 47
10 - 44
12
12 - 17
16
19 - 20
21 - 44
44
45
45 - 46
45 - 47
46
46 - 50
46 - 52
46 - 54
47 - 48
47 - 51
47 - 52
47 - 54
48 - 50
48 - 52
48 - 54
49 - 60
50
50 - 51
51
51 - 53
52
53 - 54
56

Legend
Analysis of 130 Japanese patients by Ikezawa et al (1998) revealed 76 (58%) changes, 67 deletions and 9 duplications (6 deletions not in Figure). In 5 of 16 (31%) non-deletion / non-dulication patients tested abnormal dystrophin cDNA was detected (see DMD mutation database). Deletions / duplications were identified using 18-exon multiplex PCR. These deletions / duplications have not been included in the DMD deletion/duplication database.



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