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Deletion mutations in DMD/BMD identified in Japan

(last modified October 10, 2003)

Data are available from;

• Kobe University Graduate School of Medicine
• National Center of Neurology and Psychiatry, Kodaira, Tokyo

Kobe University Graduate School of Medicine

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

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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