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

Simple item page
dc.contributor.coauthorCortese, Andrea
dc.contributor.coauthorBeecroft, Sarah J.
dc.contributor.coauthorFacchini, Stefano
dc.contributor.coauthorCurro, Riccardo
dc.contributor.coauthorCabrera-Serrano, Macarena
dc.contributor.coauthorStevanovski, Igor
dc.contributor.coauthorChintalaphani, Sanjog R.
dc.contributor.coauthorGamaarachchi, Hasindu
dc.contributor.coauthorWeisburd, Ben
dc.contributor.coauthorFolland, Chiara
dc.contributor.coauthorMonahan, Gavin
dc.contributor.coauthorScriba, Carolin K.
dc.contributor.coauthorDofash, Lein
dc.contributor.coauthorJohari, Mridul
dc.contributor.coauthorGrosz, Bianca R.
dc.contributor.coauthorEllis, Melina
dc.contributor.coauthorFearnley, Liam G.
dc.contributor.coauthorTankard, Rick
dc.contributor.coauthorRead, Justin
dc.contributor.coauthorMerve, Ashirwad
dc.contributor.coauthorDominik, Natalia
dc.contributor.coauthorVegezzi, Elisa
dc.contributor.coauthorSchnekenberg, Ricardo P.
dc.contributor.coauthorFernandez-Eulate, Gorka
dc.contributor.coauthorMasingue, Marion
dc.contributor.coauthorGiovannini, Diane
dc.contributor.coauthorDelatycki, Martin B.
dc.contributor.coauthorStorey, Elsdon
dc.contributor.coauthorGardner, Mac
dc.contributor.coauthorAmor, David J.
dc.contributor.coauthorNicholson, Garth
dc.contributor.coauthorVucic, Steve
dc.contributor.coauthorHenderson, Robert D.
dc.contributor.coauthorRobertson, Thomas
dc.contributor.coauthorDyke, Jason
dc.contributor.coauthorFabian, Vicki
dc.contributor.coauthorMastaglia, Frank
dc.contributor.coauthorDavis, Mark R.
dc.contributor.coauthorKennerson, Marina
dc.contributor.coauthorQuinlivan, Ros
dc.contributor.coauthorHammans, Simon
dc.contributor.coauthorTucci, Arianna
dc.contributor.coauthorBahlo, Melanie
dc.contributor.coauthorMcLean, Catriona A.
dc.contributor.coauthorLaing, Nigel G.
dc.contributor.coauthorStojkovic, Tanya
dc.contributor.coauthorHoulden, Henry
dc.contributor.coauthorHanna, Michael G.
dc.contributor.coauthorDeveson, Ira W.
dc.contributor.coauthorLockhart, Paul J.
dc.contributor.coauthorLamont, Phillipa J.
dc.contributor.coauthorFahey, Michael C.
dc.contributor.coauthorBugiardini, Enrico
dc.contributor.coauthorRavenscroft, Gianina
dc.contributor.coauthorYesil, Gozde
dc.contributor.coauthorMalfatti, Edoardo
dc.contributor.coauthorLilliker, James B.
dc.contributor.coauthorWicklund, Matthew
dc.contributor.coauthorPitceathly, Robert D. S.
dc.contributor.coauthorBrady, Stefen
dc.contributor.coauthorBrais, Bernard
dc.contributor.coauthorPellerin, David
dc.contributor.coauthorZuchner, Stephan
dc.contributor.coauthorDanzi, Matt C.
dc.contributor.coauthorGrandis, Marina
dc.contributor.coauthorComi, Giacomo P.
dc.contributor.coauthorCorti, Stefania P.
dc.contributor.coauthorAbati, Elena
dc.contributor.coauthorToscano, Antonio
dc.contributor.coauthorManini, Arianna
dc.contributor.coauthorGhia, Arianna
dc.contributor.coauthorTassorelli, Cristina
dc.contributor.coauthorQuartesan, Ilaria
dc.contributor.coauthorSimone, Roberto
dc.contributor.coauthorRossor, Alexander M.
dc.contributor.coauthorReilly, Mary M.
dc.contributor.coauthorCarroll, Liam
dc.contributor.coauthorStraub, Volker
dc.contributor.coauthorUdd, Bjarne
dc.contributor.coauthorChen, Zhiyong
dc.contributor.coauthorBonne, Gisele
dc.contributor.kuauthorOflazer, Piraye
dc.contributor.kuauthorBaşak, Ayşe Nazlı
dc.contributor.kuauthorKayserili, Hülya
dc.contributor.researchcenter 
dc.contributor.schoolcollegeinstituteSchool of Medicine
dc.contributor.unit 
dc.date.accessioned2024-12-29T09:39:07Z
dc.date.issued2024
dc.description.abstractOculopharyngodistal 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 center dot 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 center dot CCG repeat motif and a specific pattern of muscle weakness.
dc.description.indexedbyWoS
dc.description.indexedbyScopus
dc.description.indexedbyPubMed
dc.description.issue1
dc.description.openaccessgold OA
dc.description.publisherscopeInternational
dc.description.sponsorsWe thank professor Ichizo Nishino, Carolin Sewry, and Werner Stenzel for reading and review of the muscle biopsies and electron microscopy. We thank Ms Audrey Rick for assistance with drawing the pedigrees. This research was made possible through access to data in the National Genomic Research Library, which is managed by Genomics England Limited (a wholly owned company of the Department of Health and Social Care). The National Genomic Research Library holds data provided by patients and collected by the NHS as part of their care and data collected as part of their participation in research. The National Genomic Research Library is funded by the National Institute for Health Research and NHS England. The Wellcome Trust, Cancer Research UK and the Medical Research Council have also funded research infrastructure. This project was supported by an NHMRC Ideas Grant (APP2002640) to G.R., N.G.L., M.R.D., P.J.Lamont and M.C-S and Medical Research Council (MR/T001712/1), Fondazione Cariplo (grant n. 2019-1836), the Inherited Neuropathy Consortium, Fondazione Regionale per la Ricerca Biomedica (Regione Lombardia, project ID 1751723) and Italian Ministry of Health (Ricerca Corrente 2021-2022) to A.C. C.K.S. and L.D. are supported by an Australian Government Research Training Programme (RTP) Scholarship, I.W.D. is supported by an MRFF Investigator Grant (MRF1173594) and G.R. is supported by an NHMRC EL2 Investigator Grant (APP2007769). M.B. is supported by an NHMRC L1 Investigator Grant (APP1195236), This work was also supported by the Australian State of Victoria's Government's Operational Infrastructure Support Programme, and the NHMRC Independent Research Institute Infrastructure Support Scheme (IRIISS). This work was supported by resources provided by the Pawsey Supercomputing Research Centre with funding from the Australian Government and the Government of Western Australia. Library preparation and RNA-sequencing was conducted in the Genomics WA Laboratory in Perth, Australia. This facility is supported by BioPlatforms Australia, State Government Western Australia, Australian Cancer Research Foundation, Cancer Research Trust, Harry Perkins Institute of Medical Research, Telethon Kids Institute and the University of Western Australia. We gratefully acknowledge the Australian Cancer Research Foundation and the Centre for Advanced Cancer Genomics for making available Illumina Sequencers for the use of Genomics WA.
dc.description.volume15
dc.identifier.doi10.1038/s41467-024-49950-2
dc.identifier.eissn2041-1723
dc.identifier.issn2041-1723
dc.identifier.link 
dc.identifier.quartileQ1
dc.identifier.scopus2-s2.0-85199806195
dc.identifier.urihttps://doi.org/10.1038/s41467-024-49950-2
dc.identifier.urihttps://hdl.handle.net/20.500.14288/22889
dc.identifier.wos1281224100006
dc.keywordsAdolescent
dc.keywordsAdult
dc.keywordsAged
dc.keywordsATP-binding cassette transporters
dc.keywordsFemale
dc.keywordsFibroblasts
dc.keywordsHumans
dc.keywordsMale
dc.keywordsMiddle aged
dc.keywordsMuscle weakness
dc.keywordsMuscle, skeletal
dc.keywordsMuscular dystrophies
dc.keywordsMyopathies, structural, congenital
dc.keywordsOculopharyngodistal myopathy
dc.keywordsPedigree
dc.keywordsTrinucleotide repeat expansion
dc.keywordsWhite people
dc.keywordsYoung adult
dc.languageen
dc.publisherNature Portfolio
dc.relation.grantno 
dc.rights 
dc.sourceNature Communications
dc.subjectNeurodegenerative diseases
dc.subjectHuntington's disease
dc.titleA CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry
dc.typeJournal article
dc.type.other 
dspace.entity.typePublication
local.contributor.kuauthorOflazer, Piraye
local.contributor.kuauthorBaşak, Ayşe Nazlı
local.contributor.kuauthorKayserili, Hülya

Files

Collections

Publications without Fulltext