ArticleAmerican journal of human genetics1995
Spectrum of small mutations in the dystrophin coding region.
Article in American journal of human genetics, 1995. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers.
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Who cites it
26 citing papers in PubMed.
- Total RNA-seq as a Tool to Study DMD Splicing and Transcriptional Dynamics.Methods in molecular biology (Clifton, N.J.) · 2026Article
- In Vivo Evaluation of Single- and Multi-Exon-Skipping in mdx52 Mice.Methods in molecular biology (Clifton, N.J.) · 2025Article
- Natural history of Becker muscular dystrophy: a multicenter study of 225 patients.Annals of clinical and translational neurology · 2023Article
- NGS-based targeted sequencing identified six novel variants in patients with Duchenne/Becker muscular dystrophy from southwestern China.BMC medical genomics · 2023Article
- Specificities of the DMD Gene Mutation Spectrum in Russian Patients.International journal of molecular sciences · 2022Article
- Small mutations in Duchenne/Becker muscular dystrophy in 164 unrelated Polish patients.Journal of applied genetics · 2021Article
- Morpholino Oligomer-Induced Dystrophin Isoforms to Map the Functional Domains in the Dystrophin Protein.Molecular therapy. Nucleic acids · 2020Article
- Modelling Duchenne muscular dystrophy in MYOD1-converted urine-derived cells treated with 3-deazaneplanocin A hydrochloride.Scientific reports · 2019Article
- Deletions, not duplications or small mutations, are the predominante new mutations in the dystrophin gene.Journal of human genetics · 2017Article
- Aminoglycosides, but not PTC124 (Ataluren), rescue nonsense mutations in the leptin receptor and in luciferase reporter genes.Scientific reports · 2017Article
- Evaluation of point mutations in dystrophin gene in Iranian Duchenne and Becker muscular dystrophy patients: introducing three novel variants.Journal of genetics · 2016Article
- High throughput screening in duchenne muscular dystrophy: from drug discovery to functional genomics.Biology · 2014Review
- Microdystrophin ameliorates muscular dystrophy in the canine model of duchenne muscular dystrophy.Molecular therapy : the journal of the American Society of Gene Therapy · 2013Article
- Characterization of the melanocortin-4-receptor nonsense mutation W16X in vitro and in vivo.The pharmacogenomics journal · 2013Article
- Improvement of survival in Duchenne Muscular Dystrophy: retrospective analysis of 835 patients.Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology · 2012Article
- Survival in Duchenne muscular dystrophy.Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology · 2012Article
- Read-through compound 13 restores dystrophin expression and improves muscle function in the mdx mouse model for Duchenne muscular dystrophy.Human molecular genetics · 2012Article
- Thermodynamic stability, unfolding kinetics, and aggregation of the N-terminal actin-binding domains of utrophin and dystrophin.Proteins · 2012Article
- Becker muscular dystrophy due to an inversion of exons 23 and 24 of the DMD gene.Muscle & nerve · 2011Article
- In-frame dystrophin following exon 51-skipping improves muscle pathology and function in the exon 52-deficient mdx mouse.Molecular therapy : the journal of the American Society of Gene Therapy · 2010Article
Corrections and comments
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Authors and funding
8 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Duchenne and Becker muscular dystrophies (DMD and BMD) are caused by defects in the dystrophin gene. About two-thirds of the affected patients have large deletions or duplications, which occur in the 5' and central portion of the gene. The nondeletion/duplication cases are most likely the result of smaller mutations that cannot be identified by current diagnostic screening strategies. We screened approximately 80% of the dystrophin coding sequence for small mutations in 158 patients without deletions or duplications and identified 29 mutations. The study indicates that many of the DMD and the majority of the BMD small mutations lie in noncoding regions of the gene. All of the mutations identified were unique to single patients, and most of the mutations resulted in protein truncation. We did not find a clustering of small mutations similar to the deletion distribution but found > 40% of the small mutations 3' of exon 55. The extent of protein truncation caused by the 3' mutations did not determine the phenotype, since even the exon 76 nonsense mutation resulted in the severe DMD phenotype. Our study confirms that the dystrophin gene is subject to a high rate of mutation in CpG sequences. As a consequence of not finding any hotspots or prevalent small mutations, we conclude that it is presently not possible to perform direct carrier and prenatal diagnostics for many families without deletions or duplications.
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