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- W2000643876 abstract "Background: Duchenne and Becker muscular dystrophies (DMD/BMD) are caused by mutations in the dystrophin gene. Mutation analysis of the dystrophin gene is indispensable not only to provide proper clinical information but to apply the molecular therapies, which depend on the type of mutation in each case. However, the large size of dystrophin gene hampers the detection of small mutations. To clarify the responsible mutations of all cases, comprehensive mutation analysis of the dystrophin gene employing not only genomic DNA but mRNA was performed. Furthermore, the applicability of molecular therapies was examined. Patients and methods: Total of 456 Japanese dystrophinopathy cases (368 DMD and 88 BMD) were recruited. Gross gene arrangements were detected by Southern blotting, MLPA analysis, or semi-quantitative PCR analysis, and small mutations were analyzed by RT-PCR or direct sequence method using genomic DNA or cDNA as template. Results and discussion: Among 456 cases, deletions and duplications encompassing one or more exons were identified in 277 (61%) and 39 (9%) cases, respectively. Nucleotide changes leading to nonsense mutations or disrupting a splice site were identified in 71 (16%) or 27 (6%) cases, respectively. Small deletion/insertion mutations were identified in 35 (8%) cases. Single nucleotide changes deep within an intron which created novel transcripts with a pseudoexon were revealed in four cases. X-chromosome abnormalities were identified in two cases. For the application of molecular therapies in 368 DMD cases, 68 cases were applicable for the treatment with the induction of read-through of nonsense mutation, whereas 221 cases were applicable for the treatment with the induction of exon skipping. At one Japanese referral center the hospital-based mutation database of the dystrophin gene was for the first time established. And this database was useful for the examination for the applicability of molecular therapies." @default.
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- W2000643876 date "2010-10-01" @default.
- W2000643876 modified "2023-09-25" @default.
- W2000643876 title "P4.03 Mutation spectrum of the dystrophin gene in 456 Duchenne/Becker muscular dystrophy cases from one Japanese referral center" @default.
- W2000643876 doi "https://doi.org/10.1016/j.nmd.2010.07.199" @default.
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