ArticleAmerican journal of human genetics1994
A novel point mutation (G-1 to T) in a 5' splice donor site of intron 13 of the dystrophin gene results in exon skipping and is responsible for Becker muscular dystrophy.
Article in American journal of human genetics, 1994. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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Who cites it
9 citing papers in PubMed, 43 citations in OpenAlex.
- Faulty RNA splicing: consequences and therapeutic opportunities in brain and muscle disorders.Human genetics · 2017Review
- Restoring dystrophin expression in duchenne muscular dystrophy muscle progress in exon skipping and stop codon read through.The American journal of pathology · 2011Review
- A novel cryptic exon identified in the 3' region of intron 2 of the human dystrophin gene.Journal of human genetics · 2005Article
- Disruption of the splicing enhancer sequence within exon 27 of the dystrophin gene by a nonsense mutation induces partial skipping of the exon and is responsible for Becker muscular dystrophy.The Journal of clinical investigation · 1997Article
- A novel splice site mutation in a Becker muscular dystrophy patient.Journal of medical genetics · 1996Article
- Mutations of the microsomal triglyceride-transfer-protein gene in abetalipoproteinemia.American journal of human genetics · 1995Article
- Family with neurofibromatosis type 2 and autosomal dominant hearing loss: identification of carriers of the mutated NF2 gene.Human genetics · 1995Article
- Spectrum of small mutations in the dystrophin coding region.American journal of human genetics · 1995Article
- Modulation of in vitro splicing of the upstream intron by modifying an intra-exon sequence which is deleted from the dystrophin gene in dystrophin Kobe.The Journal of clinical investigation · 1995Article
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Authors and funding
9 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The mutations in one-third of Duchenne and Becker muscular dystrophy patients remain unknown, as they do not involve gross rearrangements of the dystrophin gene. We now report a defect in the splicing of precursor mRNA (pre-mRNA), resulting from a maternally inherited mutation of the dystrophin gene in a patient with Becker muscular dystrophy. This defect results from a G-to-T transversion at the terminal nucleotide of exon 13, within the 5' splice site of intron 13, and causes complete skipping of exon 13 during processing of dystrophin pre-mRNA. The predicted polypeptide encoded by the aberrant mRNA is a truncated dystrophin lacking 40 amino acids from the amino-proximal end of the rod domain. This is the first report of an intraexon point mutation that completely inactivates a 5' splice donor site in dystrophin pre-mRNA. Analysis of the genomic context of the G-1-to-T mutation at the 5' splice site supports the exon-definition model of pre-mRNA splicing and contributes to the understanding of splice-site selection.
Indexed as
Identifiers
8279470PMC1918065W1546325934What OpenQuestion holds
Registered trials
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