ArticleMolecular genetics & genomic medicine2013
Antisense suppression of donor splice site mutations in the dystrophin gene transcript.
Article in Molecular genetics & genomic medicine, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Who cites it
7 citing papers in PubMed.
- Alternative splicing of the Snap23 microexon is regulated by MBNL, QKI, and RBFOX2 in a tissue-specific manner and is altered in striated muscle diseases.RNA biology · 2025Article
- The identification of protein and RNA interactors of the splicing factor Caper in the adultFrontiers in molecular neuroscience · 2023Article
- Artificial Intelligence, Healthcare, Clinical Genomics, and Pharmacogenomics Approaches in Precision Medicine.Frontiers in genetics · 2022Review
- Faulty RNA splicing: consequences and therapeutic opportunities in brain and muscle disorders.Human genetics · 2017Review
- LOX-1 and Its Splice Variants: A New Challenge for Atherosclerosis and Cancer-Targeted Therapies.International journal of molecular sciences · 2017Review
- RNA mis-splicing in disease.Nature reviews. Genetics · 2016Review
- Pseudoexon activation increases phenotype severity in a Becker muscular dystrophy patient.Molecular genetics & genomic medicine · 2015Article
Corrections and comments
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Authors and funding
6 authors.
Funding
Abstract
We describe two donor splice site mutations, affecting dystrophin exons 16 and 45 that led to Duchenne muscular dystrophy (DMD), through catastrophic inactivation of the mRNA. These gene lesions unexpectedly resulted in the retention of the downstream introns, thereby increasing the length of the dystrophin mRNA by 20.2 and 36 kb, respectively. Splice-switching antisense oligomers targeted to exon 16 excised this in-frame exon and the following intron from the patient dystrophin transcript very efficiently in vitro, thereby restoring the reading frame and allowing synthesis of near-normal levels of a putatively functional dystrophin isoform. In contrast, targeting splice-switching oligomers to exon 45 in patient cells promoted only modest levels of an out-of-frame dystrophin transcript after transfection at high oligomer concentrations, whereas dual targeting of exons 44 and 45 or 45 and 46 resulted in more efficient exon skipping, with concomitant removal of intron 45. The splice site mutations reported here appear highly amenable to antisense oligomer intervention. We suggest that other splice site mutations may need to be evaluated for oligomer interventions on a case-by-case basis.
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