ArticleHuman mutation2020
Exonic rearrangements in DMD in Chinese Han individuals affected with Duchenne and Becker muscular dystrophies.
Article in Human mutation, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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Who cites it
20 citing papers in PubMed, 39 citations in OpenAlex.
- Systematic analysis of the adverse effects of used clinical antisense oligonucleotide drugs in DMD patients based on the FAERS database.European journal of clinical pharmacology · 2026Article
- A natural history study of Chinese individuals with Duchenne muscular dystrophy: Results from 2 years of follow-up and beyond.PloS one · 2026Observational
- Genetic Analysis and Reproductive Intervention in a Duchenne Muscular Dystrophy Family With Cryptic Complex Chromosomal Rearrangement Identified by Structural Variation Sequencing.Human mutation · 2026Article
- Congenital muscular dystrophies and myopathies: the leading cause of genetic muscular disorders in eleven Chinese families.BMC musculoskeletal disorders · 2025Article
- The cryptic complex rearrangements involving the DMD gene: etiologic clues about phenotypical differences revealed by optical genome mapping.Human genomics · 2024Article
- Social cognition in two brothers with Becker muscular dystrophy: an exploratory study revealing divergent behavioral phenotypes.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2024Article
- A novel deep intronic variant introduceHeliyon · 2024Article
- Comprehensive analysis of genomic complexity in the 5' end coding region of the DMD gene in patients of exons 1-2 duplications based on long-read sequencing.BMC genomics · 2024Article
- Clinical and genetic interpretation of uncertain DMD missense variants: evidence from mRNA and protein studies.Orphanet journal of rare diseases · 2024Article
- A 1-year analysis from a natural history study in Chinese individuals with Duchenne muscular dystrophy.The Lancet regional health. Western Pacific · 2024Article
- Article
- Identification of Biallelic dystrophin gene variants during maternal carrier testing for Becker muscular dystrophy and review of the DMD exon 49-51 deletion phenotype.Molecular genetics & genomic medicine · 2023Article
- Reclassification ofGenes · 2022Article
- Long-Read Sequencing Revealed Extragenic and Intragenic Duplications of Exons 56-61 inFrontiers in genetics · 2022Article
- Identification of immune-related features involved in Duchenne muscular dystrophy: A bidirectional transcriptome and proteome-driven analysis.Frontiers in immunology · 2022Article
- Case Report: Co-occurrence of Duchenne Muscular Dystrophy and Frontometaphyseal Dysplasia 1.Frontiers in pediatrics · 2021Article
- Haplotype-Based Noninvasive Prenatal Diagnosis of 21 Families With Duchenne Muscular Dystrophy: Real-World Clinical Data in China.Frontiers in genetics · 2021Article
- [A predictive analysis of the association between clinical phenotypes and genotypes in children with Becker muscular dystrophy/Duchenne muscular dystrophy].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2020Article
- Exonic rearrangements in DMD in Chinese Han individuals affected with Duchenne and Becker muscular dystrophies.Human mutation · 2020Article
- A Comprehensive Analysis of 2013 Dystrophinopathies in China: A Report From National Rare Disease Center.Frontiers in neurology · 2020Article
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Authors and funding
12 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Exonic deletions and duplications within DMD are the main pathogenic variants in Duchenne and Becker muscular dystrophies (DMD/BMD). However, few studies have profiled the flanking sequences of breakpoints and the potential mechanism underlying the breakpoints in different fragile regions of DMD. In this study, 896 Chinese male probands afflicted with DMD/BMD were selected from unrelated families and analyzed using multiplex ligation-dependent probe amplification of the DMD gene, in which we identified exon deletions in 784 subjects and duplications in 112 subjects. Deletions occurred most frequently in the genomic region encompassing exons 45-55, accounting for 73% of all deletion patterns. Furthermore, to unravel the potential mechanism that induced breaks, DMD gene capture and sequencing were performed to identify the breakpoints in 37 subjects with deletions encompassing exons 45-55 of DMD; we found that DMD instability did not arise from a single cause; instead, long-sequence motifs, nonconsensus microhomologies, low-copy repeats, and microindels were embedded around the breakpoints, which may predispose DMD to instability. In summary, this study highlights the heterogeneous characteristics of the flanking sequences around the breakpoints and helps us to understand the mechanism underlying DMD gene instability.
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