A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry
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 id...
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2024-07-01
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| author | 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 OPDM study group 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 Gianina Ravenscroft |
| author_facet | 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 OPDM study group 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 Gianina Ravenscroft |
| author_sort | Andrea Cortese |
| collection | DOAJ |
| description | 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. |
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| issn | 2041-1723 |
| language | English |
| publishDate | 2024-07-01 |
| publisher | Nature Portfolio |
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| series | Nature Communications |
| spelling | doaj-art-efb3c57b4f0d4386a06f31ca1da16fc62025-08-20T02:17:46ZengNature PortfolioNature Communications2041-17232024-07-0115111510.1038/s41467-024-49950-2A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestryAndrea Cortese0Sarah J. Beecroft1Stefano Facchini2Riccardo Curro3Macarena Cabrera-Serrano4Igor Stevanovski5Sanjog R. Chintalaphani6Hasindu Gamaarachchi7Ben Weisburd8Chiara Folland9Gavin Monahan10Carolin K. Scriba11Lein Dofash12Mridul Johari13Bianca R. Grosz14Melina Ellis15Liam G. Fearnley16Rick Tankard17Justin Read18Ashirwad Merve19Natalia Dominik20Elisa Vegezzi21Ricardo P. Schnekenberg22Gorka Fernandez-Eulate23Marion Masingue24Diane Giovannini25Martin B. Delatycki26Elsdon Storey27Mac Gardner28David J. Amor29Garth Nicholson30Steve Vucic31Robert D. Henderson32Thomas Robertson33Jason Dyke34Vicki Fabian35Frank Mastaglia36Mark R. Davis37Marina Kennerson38OPDM study groupRos Quinlivan39Simon Hammans40Arianna Tucci41Melanie Bahlo42Catriona A. McLean43Nigel G. Laing44Tanya Stojkovic45Henry Houlden46Michael G. Hanna47Ira W. Deveson48Paul J. Lockhart49Phillipa J. Lamont50Michael C. Fahey51Enrico Bugiardini52Gianina Ravenscroft53Department of Neuromuscular Diseases, UCL Queen Square Institute of NeurologyPawsey Supercomputing Research CentreDepartment of Neuromuscular Diseases, UCL Queen Square Institute of NeurologyDepartment of Neuromuscular Diseases, UCL Queen Square Institute of NeurologyHarry Perkins Institute of Medical ResearchGenomics and Inherited Disease Program, Garvan Institute of Medical ResearchGenomics and Inherited Disease Program, Garvan Institute of Medical ResearchGenomics and Inherited Disease Program, Garvan Institute of Medical ResearchProgram in Medical and Population Genetics, Broad Institute of MIT and HarvardHarry Perkins Institute of Medical ResearchHarry Perkins Institute of Medical ResearchHarry Perkins Institute of Medical ResearchHarry Perkins Institute of Medical ResearchHarry Perkins Institute of Medical ResearchNorthcott Neuroscience Laboratory, ANZAC Research InstituteNorthcott Neuroscience Laboratory, ANZAC Research InstitutePopulation Health and Immunity Division, The Walter and Eliza Hall Institute of Medical Research, 1 G Royal ParadeDepartment of Mathematics and Statistics, Curtin UniversityBruce Lefroy Centre, Murdoch Children’s Research InstituteDepartment of Neuropathology, National Hospital for Neurology and NeurosurgeryDepartment of Neuromuscular Diseases, UCL Queen Square Institute of NeurologyIRCCS Mondino FoundationDepartment of Neuromuscular Diseases, UCL Queen Square Institute of NeurologyCentre de Référence des Maladies Neuromusculaires Nord-Est-Ile de France, Hôpital Pitié-Salpêtrière, Institut de Myologie, APHPCentre de Référence des Maladies Neuromusculaires Nord-Est-Ile de France, Hôpital Pitié-Salpêtrière, Institut de Myologie, APHPCHU Grenoble Alpes, Grenoble Institut Neurosciences, INSERM, U1216, Université Grenoble AlpesBruce Lefroy Centre, Murdoch Children’s Research InstituteNeurology Department, The Alfred HospitalThe Laboratory for Genomic Medicine, University of OtagoBruce Lefroy Centre, Murdoch Children’s Research InstituteNorthcott Neuroscience Laboratory, ANZAC Research InstituteFaculty of Medicine and Health, University of SydneyDepartment of Neurology, Royal Brisbane & Women’s HospitalPathology Queensland, Royal Brisbane and Women’s HospitalPathWest Neuropathology, Royal Perth HospitalPathWest Neuropathology, Royal Perth HospitalPerron Institute for Neurological and Translational ScienceNeurogenetics Unit, Diagnostic Genomics, PathWestNorthcott Neuroscience Laboratory, ANZAC Research InstituteDubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health & MRC Centre for Neuromuscular DiseasesWessex Neurological Centre, University Hospital SouthamptonDepartment of Neuromuscular Diseases, UCL Queen Square Institute of NeurologyPopulation Health and Immunity Division, The Walter and Eliza Hall Institute of Medical Research, 1 G Royal ParadeDepartment of Medical Biology, The University of Melbourne, ParkvilleHarry Perkins Institute of Medical ResearchCentre de Référence des Maladies Neuromusculaires Nord-Est-Ile de France, Hôpital Pitié-Salpêtrière, Institut de Myologie, APHPDepartment of Neuromuscular Diseases, UCL Queen Square Institute of NeurologyDepartment of Neuromuscular Diseases, UCL Queen Square Institute of NeurologyGenomics and Inherited Disease Program, Garvan Institute of Medical ResearchBruce Lefroy Centre, Murdoch Children’s Research InstituteNeurogenetics Unit, Royal Perth HospitalDepartment of Paediatrics Monash Children’s HospitalDepartment of Neuromuscular Diseases, UCL Queen Square Institute of NeurologyHarry Perkins Institute of Medical ResearchAbstract 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.https://doi.org/10.1038/s41467-024-49950-2 |
| spellingShingle | 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 OPDM study group 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 Gianina Ravenscroft A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry Nature Communications |
| title | A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry |
| title_full | A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry |
| title_fullStr | A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry |
| title_full_unstemmed | A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry |
| title_short | A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry |
| title_sort | ccg expansion in abcd3 causes oculopharyngodistal myopathy in individuals of european ancestry |
| url | https://doi.org/10.1038/s41467-024-49950-2 |
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