ArticlePloS one2013
Interplay between DMD point mutations and splicing signals in Dystrophinopathy phenotypes.
Article in PloS one, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 papers.
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Who cites it
31 citing papers in PubMed, 55 citations in OpenAlex.
- Recognizing red flags in genetic cardiomyopathy: the importance of genetic testing.BMC cardiovascular disorders · 2026Article
- Recurrent nonsense p.Trp3416* variant in theJournal of neuromuscular diseases · 2026Article
- Article
- Expanding the Molecular Genetic Landscape of Dystrophinopathies and Associated Phenotypes.Biomedicines · 2024Article
- Comprehensive analysis of 2097 patients with dystrophinopathy based on a database from 2011 to 2021.Orphanet journal of rare diseases · 2024Article
- Clinical and genetic interpretation of uncertain DMD missense variants: evidence from mRNA and protein studies.Orphanet journal of rare diseases · 2024Article
- Characterization of Phenotypic Variability in Becker Muscular Dystrophy for Clinical Practice and Towards Trial Readiness: A Two-Years Follow up Study.Journal of neuromuscular diseases · 2024Article
- Duchenne Muscular Dystrophy With Low Acidic α-Glucosidase Activity: Two Case Reports and Literature Review.Frontiers in pediatrics · 2022Article
- Clinical and genetic characteristics of Chinese Duchenne/Becker muscular dystrophy patients with small mutations.Frontiers in neuroscience · 2022Article
- Exonization of a deep intronic long interspersed nuclear element in Becker muscular dystrophy.Frontiers in genetics · 2022Article
- High-Throughput Digital Image Analysis Reveals Distinct Patterns of Dystrophin Expression in Dystrophinopathy Patients.Journal of neuropathology and experimental neurology · 2021Article
- A deep learning approach to identify gene targets of a therapeutic for human splicing disorders.Nature communications · 2021Article
- Very Low Residual Dystrophin Quantity Is Associated with Milder Dystrophinopathy.Annals of neurology · 2021Article
- U5 snRNA Interactions With Exons Ensure Splicing Precision.Frontiers in genetics · 2021Article
- Analysis of Pathogenic Pseudoexons Reveals Novel Mechanisms Driving Cryptic Splicing.Frontiers in genetics · 2021Article
- Article
- Longitudinal Evaluation of Working Memory in Duchenne Muscular Dystrophy.Journal of clinical medicine · 2020Article
- Identification of two rare mutations c.1318G>A and c.6438+2T>G in a Chinese DMD family as genetic markers.Genes & genomics · 2020Article
- Safety and effectiveness of ataluren: comparison of results from the STRIDE Registry and CINRG DMD Natural History Study.Journal of comparative effectiveness research · 2020Article
- Pseudoexons of the DMD Gene.Journal of neuromuscular diseases · 2020Review
Corrections and comments
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Authors and funding
16 authors at 7 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
DMD nonsense and frameshift mutations lead to severe Duchenne muscular dystrophy while in-frame mutations lead to milder Becker muscular dystrophy. Exceptions are found in 10% of cases and the production of alternatively spliced transcripts is considered a key modifier of disease severity. Several exonic mutations have been shown to induce exon-skipping, while splice site mutations result in exon-skipping or activation of cryptic splice sites. However, factors determining the splicing pathway are still unclear. Point mutations provide valuable information regarding the regulation of pre-mRNA splicing and elements defining exon identity in the DMD gene. Here we provide a comprehensive analysis of 98 point mutations related to clinical phenotype and their effect on muscle mRNA and dystrophin expression. Aberrant splicing was found in 27 mutations due to alteration of splice sites or splicing regulatory elements. Bioinformatics analysis was performed to test the ability of the available algorithms to predict consequences on mRNA and to investigate the major factors that determine the splicing pathway in mutations affecting splicing signals. Our findings suggest that the splicing pathway is highly dependent on the interplay between splice site strength and density of regulatory elements.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.