ArticleHuman genetics2009
Regional genomic instability predisposes to complex dystrophin gene rearrangements.
Article in Human genetics, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 34 papers.
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Who cites it
34 citing papers in PubMed, 58 citations in OpenAlex.
- Dystrophin-gene mutation location influences severity of electroretinogram defects in mouse models of Duchenne muscular dystrophy.BMC medicine · 2026Article
- Long-read sequencing identifies complex structural variants in DMD patients.BMC medical genomics · 2026Article
- Optical coherence tomography findings in Duchenne muscular dystrophy.BMC ophthalmology · 2026Article
- Molecular genetics of dystrophinopathy.Journal of human genetics · 2025Review
- Golodirsen restores DMD transcript imbalance in Duchenne Muscular Dystrophy patient muscle cells.Skeletal muscle · 2024Article
- T4 DNA polymerase prevents deleterious on-target DNA damage and enhances precise CRISPR editing.The EMBO journal · 2024Article
- Title-molecular diagnostics of dystrophinopathies in Sri Lanka towards phenotype predictions: an insight from a South Asian resource limited setting.European journal of medical research · 2024Article
- Detection of pericentric inversion with breakpoint in DMD by whole genome sequencing.Molecular genetics & genomic medicine · 2022Article
- Intron mutations and early transcription termination in Duchenne and Becker muscular dystrophy.Human mutation · 2022Article
- Integrating Whole-Genome Sequencing in Clinical Genetics: A Novel Disruptive Structural Rearrangement Identified in the Dystrophin Gene (International journal of molecular sciences · 2021Article
- Advances in Genetic Characterization and Genotype-Phenotype Correlation of Duchenne and Becker Muscular Dystrophy in the Personalized Medicine Era.Journal of personalized medicine · 2020Review
- Exonic rearrangements in DMD in Chinese Han individuals affected with Duchenne and Becker muscular dystrophies.Human mutation · 2020Article
- The Genetic Landscape of Dystrophin Mutations in Italy: A Nationwide Study.Frontiers in genetics · 2020Article
- From fiction to science: clinical potentials and regulatory considerations of gene editing.Clinical and translational medicine · 2019Review
- Deletion of exon 4 in LAMA2 is the most frequent mutation in Chinese patients with laminin α2-related muscular dystrophy.Scientific reports · 2018Article
- ERCC4 variants identified in a cohort of patients with segmental progeroid syndromes.Human mutation · 2018Article
- Precise mapping of 17 deletion breakpoints within the central hotspot deletion region (introns 50 and 51) of the DMD gene.Journal of human genetics · 2017Article
- Normal and altered pre-mRNA processing in the DMD gene.Human genetics · 2017Review
- High incidence of BSCL2 intragenic recombinational mutation in Peruvian type 2 Berardinelli-Seip syndrome.American journal of medical genetics. Part A · 2017Article
- Decoding NF1 Intragenic Copy-Number Variations.American journal of human genetics · 2015Article
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Authors and funding
12 authors at 5 institutions in 1 country.
Funding
Abstract
Mutations in the dystrophin gene (DMD) cause Duchenne and Becker muscular dystrophies and the majority of cases are due to DMD gene rearrangements. Despite the high incidence of these aberrations, little is known about their causative molecular mechanism(s). We examined 792 DMD/BMD clinical samples by oligonucleotide array-CGH and report on the junction sequence analysis of 15 unique deletion cases and three complex intragenic rearrangements to elucidate potential underlying mechanism(s). Furthermore, we present three cases with intergenic rearrangements involving DMD and neighboring loci. The cases with intragenic rearrangements include an inversion with flanking deleted sequences; a duplicated segment inserted in direct orientation into a deleted region; and a splicing mutation adjacent to a deletion. Bioinformatic analysis demonstrated that 7 of 12 breakpoints combined among 3 complex cases aligned with repetitive sequences, as compared to 4 of 30 breakpoints for the 15 deletion cases. Moreover, the inversion/deletion case may involve a stem-loop structure that has contributed to the initiation of this rearrangement. For the duplication/deletion and splicing mutation/deletion cases, the presence of the first mutation, either a duplication or point mutation, may have elicited the deletion events in an attempt to correct preexisting mutations. While NHEJ is one potential mechanism for these complex rearrangements, the highly complex junction sequence of the inversion/deletion case suggests the involvement of a replication-based mechanism. Our results support the notion that regional genomic instability, aided by the presence of repetitive elements, a stem-loop structure, and possibly preexisting mutations, may elicit complex rearrangements of the DMD gene.
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