ArticleNature communications2024
A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry.
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Article in Nature communications, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 21 papers.
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21citing papers in PubMed
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Who cites it
21 citing papers in PubMed.
- Toward the clinical application of long-read sequencing in repeat-expansion disorders.Nature genetics · 2026Review
- Long-read sequencing for neurological disorders: opportunities, challenges, and future directions.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2026Review
- Targeted long-read sequencing enables comprehensive analysis of the genetic and epigenetic landscape of inherited myopathies.Nature communications · 2026Article
- A Family with Patients Manifesting Different Phenotypes of Neuromuscular Disease Depending on the CGG Repeat Number in LRP12.Internal medicine (Tokyo, Japan) · 2026Article
- CGG repeat expansions in Charcot-Marie-Tooth disease: insights from the 100 000 Genomes Project.Journal of neurology, neurosurgery, and psychiatry · 2026Article
- Pathogenic CGG expansions in oculopharyngodistal myopathy exhibit distinct characteristics of each causative gene on the flanking sequences as well as methylation status.Genome medicine · 2026Article
- Translation of expanded CGG repeats in LRP12 associated oculopharyngodistal myopathy.Acta neuropathologica communications · 2026Article
- GGC repeat expansions within new open reading frames are translated into toxic polyglycine proteins in oculopharyngodistal myopathy.Nature genetics · 2026Article
- Molecular mechanism of substrate transport by human peroxisomal ABCD3.Proceedings of the National Academy of Sciences of the United States of America · 2025Article
- First Identification of CGG-Repeat Expansions inJournal of clinical neurology (Seoul, Korea) · 2025Article
- Exploration of Neurodegenerative Diseases Using Long-Read Sequencing and Optical Genome Mapping Technologies.Movement disorders : official journal of the Movement Disorder Society · 2025Review
- Recent progress in oculopharyngodistal myopathy research from clinical and genetic viewpoints.Journal of neuromuscular diseases · 2025Review
- A prospective trial comparing programmable targeted long-read sequencing and short-read genome sequencing for genetic diagnosis of cerebellar ataxia.Genome research · 2025Article
- STRchive: a dynamic resource detailing population-level and locus-specific insights at tandem repeat disease loci.Genome medicine · 2025Article
- RNA gain-of-function mechanisms in short tandem repeat diseases.RNA (New York, N.Y.) · 2025Review
- Long-read sequencing for diagnosis of genetic myopathies.BMJ neurology open · 2025Review
- A case report of oculopharyngodistal myopathy with 126 CGG repeat expansions inFrontiers in genetics · 2025Article
- Visualization and analysis of medically relevant tandem repeats in nanopore sequencing of control cohorts with pathSTR.Genome research · 2024Article
- CGG/CCG Repeat Expansions inNeurology. Genetics · 2024Article
- Double vision: 2D and 3D mosquito trajectories can be as valuable for behaviour analysis via machine learning.Parasites & vectors · 2024Article
Corrections and comments
- Erratum issued
Authors and funding
55 authors.
Andrea Cortese *Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK. andrea.cortese@ucl.ac.uk.ORCID 0000-0002-2208-5311
Sarah J Beecroft *Pawsey Supercomputing Research Centre, Kensington, WA, Australia.ORCID 0000-0002-3935-2279
Stefano FacchiniDepartment of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.
Riccardo CurroDepartment of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.
Macarena Cabrera-SerranoHarry Perkins Institute of Medical Research, Nedlands, WA, Australia.ORCID 0000-0003-3109-6095
Igor StevanovskiGenomics and Inherited Disease Program, Garvan Institute of Medical Research, Sydney, NSW, Australia.ORCID 0000-0002-7713-1979
Sanjog R ChintalaphaniGenomics and Inherited Disease Program, Garvan Institute of Medical Research, Sydney, NSW, Australia.
Hasindu GamaarachchiGenomics and Inherited Disease Program, Garvan Institute of Medical Research, Sydney, NSW, Australia.
Ben WeisburdProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.ORCID 0000-0001-9898-9109
Chiara FollandHarry Perkins Institute of Medical Research, Nedlands, WA, Australia.
Gavin MonahanHarry Perkins Institute of Medical Research, Nedlands, WA, Australia.ORCID 0000-0001-5062-5963
Carolin K ScribaHarry Perkins Institute of Medical Research, Nedlands, WA, Australia.ORCID 0000-0001-9874-3846
Lein DofashHarry Perkins Institute of Medical Research, Nedlands, WA, Australia.
Mridul JohariHarry Perkins Institute of Medical Research, Nedlands, WA, Australia.
Bianca R GroszNorthcott Neuroscience Laboratory, ANZAC Research Institute, Sydney, NSW, 2139, Australia.ORCID 0000-0002-6926-0551
Melina EllisNorthcott Neuroscience Laboratory, ANZAC Research Institute, Sydney, NSW, 2139, Australia.
Liam G FearnleyPopulation Health and Immunity Division, The Walter and Eliza Hall Institute of Medical Research, 1 G Royal Parade, Parkville, VIC, 3052, Australia.ORCID 0000-0003-2198-5411
Rick TankardDepartment of Mathematics and Statistics, Curtin University, Perth, WA, Australia.ORCID 0000-0002-8847-9401
Justin ReadBruce Lefroy Centre, Murdoch Children's Research Institute, Parkville, VIC, Australia.
Ashirwad MerveDepartment of Neuropathology, National Hospital for Neurology and Neurosurgery, London, United Kingdom.
Natalia DominikDepartment of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.
Elisa VegezziIRCCS Mondino Foundation, Pavia, Italy.
Ricardo P SchnekenbergDepartment of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.
Gorka Fernandez-EulateCentre de Référence des Maladies Neuromusculaires Nord-Est-Ile de France, Hôpital Pitié-Salpêtrière, Institut de Myologie, APHP, Paris, France.
Marion MasingueCentre de Référence des Maladies Neuromusculaires Nord-Est-Ile de France, Hôpital Pitié-Salpêtrière, Institut de Myologie, APHP, Paris, France.
Diane GiovanniniCHU Grenoble Alpes, Grenoble Institut Neurosciences, INSERM, U1216, Université Grenoble Alpes, Grenoble, France.
Martin B DelatyckiBruce Lefroy Centre, Murdoch Children's Research Institute, Parkville, VIC, Australia.
Elsdon StoreyNeurology Department, The Alfred Hospital, Melbourne, VIC, Australia.
Mac GardnerThe Laboratory for Genomic Medicine, University of Otago, Dunedin, New Zealand.
David J AmorBruce Lefroy Centre, Murdoch Children's Research Institute, Parkville, VIC, Australia.ORCID 0000-0001-7191-8511
Garth NicholsonNorthcott Neuroscience Laboratory, ANZAC Research Institute, Sydney, NSW, 2139, Australia.ORCID 0000-0001-9694-066X
Steve VucicFaculty of Medicine and Health, University of Sydney, Sydney, NSW, 2006, Australia.ORCID 0000-0002-8323-873X
Robert D HendersonDepartment of Neurology, Royal Brisbane & Women's Hospital, Herston, QLD, Australia.
Thomas RobertsonPathology Queensland, Royal Brisbane and Women's Hospital, Herston, QLD, Australia.
Jason DykePathWest Neuropathology, Royal Perth Hospital, Perth, WA, Australia.ORCID 0000-0002-8152-6252
Vicki FabianPathWest Neuropathology, Royal Perth Hospital, Perth, WA, Australia.
Frank MastagliaPerron Institute for Neurological and Translational Science, Nedlands, WA, Australia.
Mark R DavisNeurogenetics Unit, Diagnostic Genomics, PathWest, Nedlands, WA, Australia.
Marina KennersonNorthcott Neuroscience Laboratory, ANZAC Research Institute, Sydney, NSW, 2139, Australia.
OPDM study group
Ros QuinlivanDubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health & MRC Centre for Neuromuscular Diseases, London, United Kingdom.
Simon HammansWessex Neurological Centre, University Hospital Southampton, Southampton, United Kingdom.
Arianna TucciDepartment of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.
Melanie BahloPopulation Health and Immunity Division, The Walter and Eliza Hall Institute of Medical Research, 1 G Royal Parade, Parkville, VIC, 3052, Australia.ORCID 0000-0001-5132-0774
Catriona A McLeanDepartment of Medical Biology, The University of Melbourne, Parkville, Victoria, Australia.ORCID 0000-0002-0302-5727
Nigel G LaingHarry Perkins Institute of Medical Research, Nedlands, WA, Australia.
Tanya StojkovicCentre de Référence des Maladies Neuromusculaires Nord-Est-Ile de France, Hôpital Pitié-Salpêtrière, Institut de Myologie, APHP, Paris, France.
Henry HouldenDepartment of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.ORCID 0000-0002-2866-7777
Michael G HannaDepartment of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.
Ira W DevesonGenomics and Inherited Disease Program, Garvan Institute of Medical Research, Sydney, NSW, Australia.ORCID 0000-0003-3861-0472
Paul J LockhartBruce Lefroy Centre, Murdoch Children's Research Institute, Parkville, VIC, Australia.ORCID 0000-0003-2531-8413
Phillipa J LamontNeurogenetics Unit, Royal Perth Hospital, Perth, WA, Australia.
Michael C FaheyDepartment of Paediatrics Monash Children's Hospital, Victoria, Australia.ORCID 0000-0003-0811-4785
Enrico BugiardiniDepartment of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.ORCID 0000-0002-9709-6699
Gianina RavenscroftHarry Perkins Institute of Medical Research, Nedlands, WA, Australia. gina.ravenscroft@uwa.edu.au.ORCID 0000-0003-3634-211X
Funding
RCUK | Medical Research Council (MRC) MR/T001712/1Wellcome Trust
Abstract
Oculopharyngodistal myopathy (OPDM) is an inherited myopathy manifesting with ptosis, dysphagia and distal weakness. Pathologically it is characterised by rimmed vacuoles and intranuclear inclusions on muscle biopsy. In recent years CGG • CCG repeat expansion in four different genes were identified in OPDM individuals in Asian populations. None of these have been found in affected individuals of non-Asian ancestry. In this study we describe the identification of CCG expansions in ABCD3, ranging from 118 to 694 repeats, in 35 affected individuals across eight unrelated OPDM families of European ancestry. ABCD3 transcript appears upregulated in fibroblasts and skeletal muscle from OPDM individuals, suggesting a potential role of over-expression of CCG repeat containing ABCD3 transcript in progressive skeletal muscle degeneration. The study provides further evidence of the role of non-coding repeat expansions in unsolved neuromuscular diseases and strengthens the association between the CGG • CCG repeat motif and a specific pattern of muscle weakness.
Indexed as
ATP-Binding Cassette TransportersMuscle, SkeletalTrinucleotide Repeat ExpansionWhite PeopleAdolescentAdultAgedFemaleFibroblastsHumansMaleMiddle AgedMuscle WeaknessMuscular DystrophiesMyopathies, Structural, CongenitalPedigreeABCD3 protein, humanATP-Binding Cassette Transporters
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