ArticleMolecular genetics & genomic medicine2022
Detection of pericentric inversion with breakpoint in DMD by whole genome sequencing.
Article in Molecular genetics & genomic medicine, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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13 citing papers in PubMed, 18 citations in OpenAlex.
- Long-read sequencing identifies complex structural variants in DMD patients.BMC medical genomics · 2026Article
- Genetic Analysis and Reproductive Intervention in a Duchenne Muscular Dystrophy Family With Cryptic Complex Chromosomal Rearrangement Identified by Structural Variation Sequencing.Human mutation · 2026Article
- Optical genome mapping identifies a balanced inversion disrupting DMD in a patient with Duchenne muscular dystrophy.Molecular cytogenetics · 2025Article
- Congenital muscular dystrophies and myopathies: the leading cause of genetic muscular disorders in eleven Chinese families.BMC musculoskeletal disorders · 2025Article
- Optical genome mapping: Unraveling complex variations and enabling precise diagnosis in dystrophinopathy.Annals of clinical and translational neurology · 2025Article
- Identifying inversions with breakpoints in the Dystrophin gene through long-read sequencing: report of two cases.BMC medical genomics · 2024Article
- The impact of inversions across 33,924 families with rare disease from a national genome sequencing project.American journal of human genetics · 2024Article
- Stochasticity in genetics and gene regulation.Philosophical transactions of the Royal Society of London. Series B, Biological sciences · 2024Review
- Single variant, yet "double trouble": TSC and KBG syndrome because of a large de novo inversion.Life science alliance · 2024Article
- Exome Sequencing and Optical Genome Mapping in Molecularly Unsolved Cases of Duchenne Muscular Dystrophy: Identification of a Causative X-Chromosomal Inversion Disrupting theInternational journal of molecular sciences · 2023Article
- Whole-Genome Sequencing Identified New Structural Variations in theInternational journal of molecular sciences · 2023Article
- Detection of pericentric inversion with breakpoint in DMD by whole genome sequencing.Molecular genetics & genomic medicine · 2022Article
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4 authors at 1 institution in 1 country.
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No grant is acknowledged in the PubMed record.
Abstract
backgroundDystrophinopathies caused by variants in the DMD gene are a well-studied muscle disease. The most common type of variant in DMD are large deletions. Very rarely reported forms of variants are chromosomal translocations, inversions and deep intronic variants (DIVs) because they are not detectable by standard diagnostic techniques (sequencing of coding sequence, copy number variant detection). This might be the reason that some clinically and histologically proven dystrophinopathy cases remain unsolved.
methodsWe used whole genome sequencing (WGS) to screen the entire DMD gene for variants in one of two brothers suffering from typical muscular dystrophy with strongly elevated creatine kinase levels.
resultsAlthough a pathogenic DIV could not be detected, we were able to identify a pericentric inversion with breakpoints in DMD intron 44 and Xq13.3, which could be confirmed by Sanger sequencing in the index as well as in his brother and mother. As this variation affects a major part of DMD it is most likely disease causing.
conclusionOur findings elucidate that WGS is capable of detecting large structural rearrangements and might be suitable for the genetic diagnostics of dystrophinopathies in the future. In particular, inversions might be a more frequent cause for dystrophinopathies as anticipated and should be considered in genetically unsolved dystrophinopathy cases.
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