ArticleHuman mutation2022
Intron mutations and early transcription termination in Duchenne and Becker muscular dystrophy.
Article in Human mutation, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.
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Who cites it
23 citing papers in PubMed, 47 citations in OpenAlex.
- Splice-site variants in neurology: from molecular mechanisms to clinical interpretation - a focused review.Neurogenetics · 2026Review
- U7snRNA-mediated skipping of intron-derived pseudoexons restores full-lengthMolecular therapy. Advances · 2026Article
- Quantitative Evaluation of Dystrophin Expression Using SDS-PAGE Western Blot Methods.Methods in molecular biology (Clifton, N.J.) · 2026Article
- Total RNA-seq as a Tool to Study DMD Splicing and Transcriptional Dynamics.Methods in molecular biology (Clifton, N.J.) · 2026Article
- Optical genome mapping identifies a balanced inversion disrupting DMD in a patient with Duchenne muscular dystrophy.Molecular cytogenetics · 2025Article
- Translating Muscle RNAseq Into the Clinic for the Diagnosis of Muscle Diseases.Annals of clinical and translational neurology · 2025Article
- Decade-long application of preimplantation genetic testing for DMD/BMD: analysis of five clinical strategies and embryo recombination patterns.Human genetics · 2025Article
- 30 Years Since the Proposal of Exon Skipping Therapy for Duchenne Muscular Dystrophy and the Future of Pseudoexon Skipping.International journal of molecular sciences · 2025Review
- Clinical Characteristics of Patients With Becker Muscular Dystrophy Having Pathogenic Microvariants or Duplications.Neurology. Genetics · 2025Article
- Article
- Functional Analysis of Complex Structural and Splice-Altering Variants in theHuman mutation · 2025Article
- Optical genome mapping: Unraveling complex variations and enabling precise diagnosis in dystrophinopathy.Annals of clinical and translational neurology · 2025Article
- From shadows to clarity: A new paradigm for comprehensive variant detection in undiagnosed dystrophinopathy using combined long-read and RNA sequencing.Computational and structural biotechnology journal · 2025Article
- The Arabidopsis U1 snRNP regulates mRNA 3'-end processing.Nature plants · 2024Article
- Comprehensive analysis of 2097 patients with dystrophinopathy based on a database from 2011 to 2021.Orphanet journal of rare diseases · 2024Article
- Revealing myopathy spectrum: integrating transcriptional and clinical features of human skeletal muscles with varying health conditions.Communications biology · 2024Article
- A novel deep intronic variant introduceHeliyon · 2024Article
- The complex landscape of DMD mutations: moving towards personalized medicine.Frontiers in genetics · 2024Review
- When SizeBiomedicines · 2023Article
- Transcriptome and Genome Analysis Uncovers aNeurology. Genetics · 2023Article
Corrections and comments
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Authors and funding
23 authors at 14 institutions in 2 countries.
Funding
Abstract
DMD pathogenic variants for Duchenne and Becker muscular dystrophy are detectable with high sensitivity by standard clinical exome analyses of genomic DNA. However, up to 7% of DMD mutations are deep intronic and analysis of muscle-derived RNA is an important diagnostic step for patients who have negative genomic testing but abnormal dystrophin expression in muscle. In this study, muscle biopsies were evaluated from 19 patients with clinical features of a dystrophinopathy, but negative clinical DMD mutation analysis. Reverse transcription-polymerase chain reaction or high-throughput RNA sequencing methods identified 19 mutations with one of three pathogenic pseudoexon types: deep intronic point mutations, deletions or insertions, and translocations. In association with point mutations creating intronic splice acceptor sites, we observed the first examples of DMD pseudo 3'-terminal exon mutations causing high efficiency transcription termination within introns. This connection between splicing and premature transcription termination is reminiscent of U1 snRNP-mediating telescripting in sustaining RNA polymerase II elongation across large genes, such as DMD. We propose a novel classification of three distinct types of mutations identifiable by muscle RNA analysis, each of which differ in potential treatment approaches. Recognition and appropriate characterization may lead to therapies directed toward full-length dystrophin expression for some patients.
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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.