A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry

Andrea Cortese (), Sarah J. Beecroft, Stefano Facchini, Riccardo Curro, Macarena Cabrera-Serrano, Igor Stevanovski, Sanjog R. Chintalaphani, Hasindu Gamaarachchi, Ben Weisburd, Chiara Folland, Gavin Monahan, Carolin K. Scriba, Lein Dofash, Mridul Johari, Bianca R. Grosz, Melina Ellis, Liam G. Fearnley, Rick Tankard, Justin Read, Ashirwad Merve, Natalia Dominik, Elisa Vegezzi, Ricardo P. Schnekenberg, Gorka Fernandez-Eulate, Marion Masingue, Diane Giovannini, Martin B. Delatycki, Elsdon Storey, Mac Gardner, David J. Amor, Garth Nicholson, Steve Vucic, Robert D. Henderson, Thomas Robertson, Jason Dyke, Vicki Fabian, Frank Mastaglia, Mark R. Davis, Marina Kennerson, Ros Quinlivan, Simon Hammans, Arianna Tucci, Melanie Bahlo, Catriona A. McLean, Nigel G. Laing, Tanya Stojkovic, Henry Houlden, Michael G. Hanna, Ira W. Deveson, Paul J. Lockhart, Phillipa J. Lamont, Michael C. Fahey, Enrico Bugiardini and Gianina Ravenscroft ()
Additional contact information
Andrea Cortese: UCL Queen Square Institute of Neurology
Sarah J. Beecroft: Pawsey Supercomputing Research Centre
Stefano Facchini: UCL Queen Square Institute of Neurology
Riccardo Curro: UCL Queen Square Institute of Neurology
Macarena Cabrera-Serrano: Harry Perkins Institute of Medical Research
Igor Stevanovski: Garvan Institute of Medical Research
Sanjog R. Chintalaphani: Garvan Institute of Medical Research
Hasindu Gamaarachchi: Garvan Institute of Medical Research
Ben Weisburd: Broad Institute of MIT and Harvard
Chiara Folland: Harry Perkins Institute of Medical Research
Gavin Monahan: Harry Perkins Institute of Medical Research
Carolin K. Scriba: Harry Perkins Institute of Medical Research
Lein Dofash: Harry Perkins Institute of Medical Research
Mridul Johari: Harry Perkins Institute of Medical Research
Bianca R. Grosz: ANZAC Research Institute
Melina Ellis: ANZAC Research Institute
Liam G. Fearnley: 1 G Royal Parade
Rick Tankard: Curtin University
Justin Read: Murdoch Children’s Research Institute
Ashirwad Merve: National Hospital for Neurology and Neurosurgery
Natalia Dominik: UCL Queen Square Institute of Neurology
Elisa Vegezzi: IRCCS Mondino Foundation
Ricardo P. Schnekenberg: UCL Queen Square Institute of Neurology
Gorka Fernandez-Eulate: APHP
Marion Masingue: APHP
Diane Giovannini: Université Grenoble Alpes
Martin B. Delatycki: Murdoch Children’s Research Institute
Elsdon Storey: The Alfred Hospital
Mac Gardner: University of Otago
David J. Amor: Murdoch Children’s Research Institute
Garth Nicholson: ANZAC Research Institute
Steve Vucic: University of Sydney
Robert D. Henderson: Royal Brisbane & Women’s Hospital
Thomas Robertson: Royal Brisbane and Women’s Hospital
Jason Dyke: Royal Perth Hospital
Vicki Fabian: Royal Perth Hospital
Frank Mastaglia: Perron Institute for Neurological and Translational Science
Mark R. Davis: PathWest
Marina Kennerson: ANZAC Research Institute
Ros Quinlivan: UCL Great Ormond Street Institute of Child Health & MRC Centre for Neuromuscular Diseases
Simon Hammans: University Hospital Southampton
Arianna Tucci: UCL Queen Square Institute of Neurology
Melanie Bahlo: 1 G Royal Parade
Catriona A. McLean: Parkville
Nigel G. Laing: Harry Perkins Institute of Medical Research
Tanya Stojkovic: APHP
Henry Houlden: UCL Queen Square Institute of Neurology
Michael G. Hanna: UCL Queen Square Institute of Neurology
Ira W. Deveson: Garvan Institute of Medical Research
Paul J. Lockhart: Murdoch Children’s Research Institute
Phillipa J. Lamont: Royal Perth Hospital
Michael C. Fahey: Department of Paediatrics Monash Children’s Hospital
Enrico Bugiardini: UCL Queen Square Institute of Neurology
Gianina Ravenscroft: Harry Perkins Institute of Medical Research

Nature Communications, 2024, vol. 15, issue 1, 1-15

Abstract: 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.

Date: 2024
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DOI: 10.1038/s41467-024-49950-2

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