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A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry.
Cortese, Andrea; Beecroft, Sarah J; Facchini, Stefano; Curro, Riccardo; Cabrera-Serrano, Macarena; Stevanovski, Igor; Chintalaphani, Sanjog R; Gamaarachchi, Hasindu; Weisburd, Ben; Folland, Chiara; Monahan, Gavin; Scriba, Carolin K; Dofash, Lein; Johari, Mridul; Grosz, Bianca R; Ellis, Melina; Fearnley, Liam G; Tankard, Rick; Read, Justin; Merve, Ashirwad; Dominik, Natalia; Vegezzi, Elisa; Schnekenberg, Ricardo P; Fernandez-Eulate, Gorka; Masingue, Marion; Giovannini, Diane; Delatycki, Martin B; Storey, Elsdon; Gardner, Mac; Amor, David J; Nicholson, Garth; Vucic, Steve; Henderson, Robert D; Robertson, Thomas; Dyke, Jason; Fabian, Vicki; Mastaglia, Frank; Davis, Mark R; Kennerson, Marina; Quinlivan, Ros; Hammans, Simon; Tucci, Arianna; Bahlo, Melanie; McLean, Catriona A; Laing, Nigel G; Stojkovic, Tanya; Houlden, Henry; Hanna, Michael G; Deveson, Ira W; Lockhart, Paul J.
Afiliação
  • Cortese A; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK. andrea.cortese@ucl.ac.uk.
  • Beecroft SJ; Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy. andrea.cortese@ucl.ac.uk.
  • Facchini S; Pawsey Supercomputing Research Centre, Kensington, WA, Australia.
  • Curro R; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.
  • Cabrera-Serrano M; Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy.
  • Stevanovski I; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.
  • Chintalaphani SR; Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy.
  • Gamaarachchi H; Harry Perkins Institute of Medical Research, Nedlands, WA, Australia.
  • Weisburd B; Department of Neurology and Instituto de Biomedicina de Sevilla, Hospital Universitario Virgen del Rocío/Universidad de Sevilla/CSIC, Sevilla, 41013, Spain.
  • Folland C; Genomics and Inherited Disease Program, Garvan Institute of Medical Research, Sydney, NSW, Australia.
  • Monahan G; Centre for Population Genomics, Garvan Institute of Medical Research and Murdoch Children's Research Institute, Sydney, NSW, Australia.
  • Scriba CK; Genomics and Inherited Disease Program, Garvan Institute of Medical Research, Sydney, NSW, Australia.
  • Dofash L; Centre for Population Genomics, Garvan Institute of Medical Research and Murdoch Children's Research Institute, Sydney, NSW, Australia.
  • Johari M; Genomics and Inherited Disease Program, Garvan Institute of Medical Research, Sydney, NSW, Australia.
  • Grosz BR; Centre for Population Genomics, Garvan Institute of Medical Research and Murdoch Children's Research Institute, Sydney, NSW, Australia.
  • Ellis M; School of Computer Science and Engineering, University of New South Wales, Sydney, NSW, Australia.
  • Fearnley LG; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
  • Tankard R; Harry Perkins Institute of Medical Research, Nedlands, WA, Australia.
  • Read J; Centre for Medical Research, University of Western Australia, Nedlands, WA, Australia.
  • Merve A; Harry Perkins Institute of Medical Research, Nedlands, WA, Australia.
  • Dominik N; Centre for Medical Research, University of Western Australia, Nedlands, WA, Australia.
  • Vegezzi E; Harry Perkins Institute of Medical Research, Nedlands, WA, Australia.
  • Schnekenberg RP; Harry Perkins Institute of Medical Research, Nedlands, WA, Australia.
  • Fernandez-Eulate G; Centre for Medical Research, University of Western Australia, Nedlands, WA, Australia.
  • Masingue M; Harry Perkins Institute of Medical Research, Nedlands, WA, Australia.
  • Giovannini D; Centre for Medical Research, University of Western Australia, Nedlands, WA, Australia.
  • Delatycki MB; Northcott Neuroscience Laboratory, ANZAC Research Institute, Sydney, NSW, 2139, Australia.
  • Storey E; Faculty of Medicine and Health, University of Sydney, Sydney, NSW, 2006, Australia.
  • Gardner M; Northcott Neuroscience Laboratory, ANZAC Research Institute, Sydney, NSW, 2139, Australia.
  • Amor DJ; Faculty of Medicine and Health, University of Sydney, Sydney, NSW, 2006, Australia.
  • Nicholson G; Population Health and Immunity Division, The Walter and Eliza Hall Institute of Medical Research, 1 G Royal Parade, Parkville, VIC, 3052, Australia.
  • Vucic S; Department of Medical Biology, The University of Melbourne, 1G Royal Parade, Parkville, VIC3052, Australia.
  • Henderson RD; Department of Mathematics and Statistics, Curtin University, Perth, WA, Australia.
  • Robertson T; Bruce Lefroy Centre, Murdoch Children's Research Institute, Parkville, VIC, Australia.
  • Dyke J; Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Parkville, VIC, Australia.
  • Fabian V; Department of Neuropathology, National Hospital for Neurology and Neurosurgery, London, United Kingdom.
  • Mastaglia F; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.
  • Davis MR; IRCCS Mondino Foundation, Pavia, Italy.
  • Kennerson M; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.
  • Quinlivan R; Centre de Référence des Maladies Neuromusculaires Nord-Est-Ile de France, Hôpital Pitié-Salpêtrière, Institut de Myologie, APHP, Paris, France.
  • Hammans S; Centre de Référence des Maladies Neuromusculaires Nord-Est-Ile de France, Hôpital Pitié-Salpêtrière, Institut de Myologie, APHP, Paris, France.
  • Tucci A; CHU Grenoble Alpes, Grenoble Institut Neurosciences, INSERM, U1216, Université Grenoble Alpes, Grenoble, France.
  • Bahlo M; Bruce Lefroy Centre, Murdoch Children's Research Institute, Parkville, VIC, Australia.
  • McLean CA; Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Parkville, VIC, Australia.
  • Laing NG; Neurology Department, The Alfred Hospital, Melbourne, VIC, Australia.
  • Stojkovic T; The Laboratory for Genomic Medicine, University of Otago, Dunedin, New Zealand.
  • Houlden H; Bruce Lefroy Centre, Murdoch Children's Research Institute, Parkville, VIC, Australia.
  • Hanna MG; Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Parkville, VIC, Australia.
  • Deveson IW; Northcott Neuroscience Laboratory, ANZAC Research Institute, Sydney, NSW, 2139, Australia.
  • Lockhart PJ; Molecular Medicine Laboratory, Concord Repatriation General Hospital, Sydney, NSW, 2139, Australia.
Nat Commun ; 15(1): 6327, 2024 Jul 27.
Article em En | MEDLINE | ID: mdl-39068203
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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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Músculo Esquelético / Expansão das Repetições de Trinucleotídeos / População Branca Limite: Adolescent / Adult / Aged / Female / Humans / Male / Middle aged Idioma: En Ano de publicação: 2024 Tipo de documento: Article
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Músculo Esquelético / Expansão das Repetições de Trinucleotídeos / População Branca Limite: Adolescent / Adult / Aged / Female / Humans / Male / Middle aged Idioma: En Ano de publicação: 2024 Tipo de documento: Article