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Exon Deletion Patterns of the Dystrophin Gene in 82 Vietnamese Duchenne/Becker Muscular Dystrophy Patients
| Content Provider | Scilit |
|---|---|
| Author | Tran, Van Khanh Ta, Van Thanh Vu, Dung Chi Nguyen, Thi Bang Suong Do, Hai Ngoc Ta, Minh Hieu Tran, Thinh Huy Matsuo, Masafumi |
| Copyright Year | 2013 |
| Description | Journal: Journal of neurogenetics Duchenne and Becker muscular dystrophies (DMD/BMD) are the most common inherited muscle diseases caused by mutations in the dystrophin gene. The reading frame rule explains the genotype-phenotype relationship in DMD/BMD. In Vietnam, extensive mutation analysis has never been conducted in DMD/BMD. Here, 152 Vietnamese muscular dystrophy patients were examined for dystrophin exon deletion by amplifying 19 deletion-prone exons and deletion ends were confirmed by dystrophin cDNA analysis if necessary. The result was that 82 (54%) patients were found to have exon deletions, thus confirming exact deletion ends. A further result was that 37 patterns of deletion were classified. Deletions of exons 45–50 and 49–52 were the most common patterns identified, numbering six cases each (7.3%). The reading frame rule explained the genotype-phenotype relationship, but not five (6.1%) DMD cases. Each of five patients had deletions of exons 11–27 in common. The applicability of the therapy producing semifunctional in frame mRNA in DMD by inducing skipping of a single exon was examined. Induction of exon 51 skipping was ranked at top priority, since 16 (27%) patients were predicted to have semifunctional mRNA skipping. Exons 45 and 53 were the next ranked, with 12 (20%) and 11 (18%) patients, respectively. The largest deletion database of the dystrophin gene, established in Vietnamese DMD/BMD patients, disclosed a strong indication for exon-skipping therapy. |
| Related Links | https://www.tandfonline.com/doi/pdf/10.3109/01677063.2013.830616 |
| Ending Page | 175 |
| Page Count | 6 |
| Starting Page | 170 |
| ISSN | 01677063 |
| e-ISSN | 15635260 |
| DOI | 10.3109/01677063.2013.830616 |
| Journal | Journal of neurogenetics |
| Issue Number | 4 |
| Volume Number | 27 |
| Language | English |
| Publisher | Informa UK Limited |
| Publisher Date | 2013-08-14 |
| Access Restriction | Open |
| Subject Keyword | Journal: Journal of neurogenetics Cell Tissue Engineering Duchenne/becker Muscular Dystrophy Exon Skipping |
| Content Type | Text |
| Subject | Genetics Cellular and Molecular Neuroscience |
