{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T14:09:25Z","timestamp":1791209365292,"version":"4.1.0"},"reference-count":43,"publisher":"Oxford University Press (OUP)","issue":"2","license":[{"start":{"date-parts":[[2023,9,13]],"date-time":"2023-09-13T00:00:00Z","timestamp":1694563200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["P50 HD060848"],"award-info":[{"award-number":["P50 HD060848"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"name":"FSHD Society"},{"DOI":"10.13039\/501100000265","name":"Medical Research Council UK","doi-asserted-by":"crossref","award":["MR\/S005021\/1"],"award-info":[{"award-number":["MR\/S005021\/1"]}],"id":[{"id":"10.13039\/501100000265","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2024,2,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Facioscapulohumeral dystrophy (FSHD) has a unique genetic aetiology resulting in partial chromatin relaxation of the D4Z4 macrosatellite repeat array on 4qter. This D4Z4 chromatin relaxation facilitates inappropriate expression of the transcription factor DUX4 in skeletal muscle. DUX4 is encoded by a retrogene that is embedded within the distal region of the D4Z4 repeat array. In the European population, the D4Z4 repeat array is usually organized in a single array that ranges between 8 and 100 units. D4Z4 chromatin relaxation and DUX4 derepression in FSHD is most often caused by repeat array contraction to 1\u201310 units (FSHD1) or by a digenic mechanism requiring pathogenic variants in a D4Z4 chromatin repressor like SMCHD1, combined with a repeat array between 8 and 20 units (FSHD2).<\/jats:p>\n                  <jats:p>With a prevalence of 1.5% in the European population, in cis duplications of the D4Z4 repeat array, where two adjacent D4Z4 arrays are interrupted by a spacer sequence, are relatively common but their relationship to FSHD is not well understood. In cis duplication alleles were shown to be pathogenic in FSHD2 patients; however, there is inconsistent evidence for the necessity of an SMCHD1 mutation for disease development.<\/jats:p>\n                  <jats:p>To explore the pathogenic nature of these alleles we compared in cis duplication alleles in FSHD patients with or without pathogenic SMCHD1 variant. For both groups we showed duplication-allele-specific DUX4 expression. We studied these alleles in detail using pulsed-field gel electrophoresis-based Southern blotting and molecular combing, emphasizing the challenges in the characterization of these rearrangements. Nanopore sequencing was instrumental to study the composition and methylation of the duplicated D4Z4 repeat arrays and to identify the breakpoints and the spacer sequence between the arrays. By comparing the composition of the D4Z4 repeat array of in cis duplication alleles in both groups, we found that specific combinations of proximal and distal repeat array sizes determine their pathogenicity. Supported by our algorithm to predict pathogenicity, diagnostic laboratories should now be furnished to accurately interpret these in cis D4Z4 repeat array duplications, alleles that can easily be missed in routine settings.<\/jats:p>","DOI":"10.1093\/brain\/awad312","type":"journal-article","created":{"date-parts":[[2023,9,11]],"date-time":"2023-09-11T16:17:31Z","timestamp":1694449051000},"page":"414-426","source":"Crossref","is-referenced-by-count":19,"title":["Autosomal dominant\n                    <i>in cis<\/i>\n                    D4Z4 repeat array duplication alleles in facioscapulohumeral dystrophy"],"prefix":"10.1093","volume":"147","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7102-710X","authenticated-orcid":false,"given":"Richard J L F","family":"Lemmers","sequence":"first","affiliation":[{"name":"Department of Human Genetics, Leiden University Medical Center , 2300 RC, Leiden , The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Russell","family":"Butterfield","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, University of Utah , Salt Lake City, UT 84112 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patrick J","family":"van der Vliet","sequence":"additional","affiliation":[{"name":"Department of Human Genetics, Leiden University Medical Center , 2300 RC, Leiden , The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jan L","family":"de Bleecker","sequence":"additional","affiliation":[{"name":"Department of Neurology, University Hospital , 9000 Gent , Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ludo","family":"van der Pol","sequence":"additional","affiliation":[{"name":"University Medical Center Utrecht , 3584 EA, Utrecht , The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Diane M","family":"Dunn","sequence":"additional","affiliation":[{"name":"Department of Human Genetics, University of Utah , Salt Lake City, UT 84112 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Corrie E","family":"Erasmus","sequence":"additional","affiliation":[{"name":"Neuromuscular Centre Nijmegen, Radboud University Nijmegen Medical Centre , 6525 GA, Nijmegen , The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marc","family":"D'Hooghe","sequence":"additional","affiliation":[{"name":"Department of Neurology, Algemeen Ziekenhuis Sint-Jan , 8000, Brugge , Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kristof","family":"Verhoeven","sequence":"additional","affiliation":[{"name":"Department of Neurology, Algemeen Ziekenhuis Sint-Jan , 8000, Brugge , Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Judit","family":"Balog","sequence":"additional","affiliation":[{"name":"Department of Human Genetics, Leiden University Medical Center , 2300 RC, Leiden , The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne","family":"Bigot","sequence":"additional","affiliation":[{"name":"Sorbonne Universit\u00e9, Inserm UMRS974, Institut de Myologie, Centre de Recherche en Myologie , F-75013 Paris , France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Baziel","family":"van Engelen","sequence":"additional","affiliation":[{"name":"Neuromuscular Centre Nijmegen, Radboud University Nijmegen Medical Centre , 6525 GA, Nijmegen , The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jeffrey","family":"Statland","sequence":"additional","affiliation":[{"name":"University of Kansas Medical Center , Kansas City, KS 66103 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9709-6699","authenticated-orcid":false,"given":"Enrico","family":"Bugiardini","sequence":"additional","affiliation":[{"name":"National Hospital For Neurology and Neurosurgery, UCL Queen Square Institute of Neurology , London, WC1N 3BG , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nienke","family":"van der Stoep","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, Leiden University Medical Center , 2300 RC, Leiden , The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Teresinha","family":"Evangelista","sequence":"additional","affiliation":[{"name":"Unit\u00e9 de Morphologie Neuromusculaire, Institut de Myologie, AP-HP , F-75013, Paris , France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chiara","family":"Marini-Bettolo","sequence":"additional","affiliation":[{"name":"The John Walton Muscular Dystrophy Research Centre , Faculty of Medical Sciences, Newcastle upon Tyne, NE1 3BZ , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter","family":"van den Bergh","sequence":"additional","affiliation":[{"name":"Department of Neurology, Saint-Luc UCL , 1200, Brussels , Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rabi","family":"Tawil","sequence":"additional","affiliation":[{"name":"Department of Neurology, University of Rochester Medical Center , NY 14642, Rochester , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicol C","family":"Voermans","sequence":"additional","affiliation":[{"name":"Neuromuscular Centre Nijmegen, Radboud University Nijmegen Medical Centre , 6525 GA, Nijmegen , The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John","family":"Vissing","sequence":"additional","affiliation":[{"name":"Department of Neurology, University of Copenhagen , DK-2100 Copenhagen , Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert B","family":"Weiss","sequence":"additional","affiliation":[{"name":"Department of Human Genetics, University of Utah , Salt Lake City, UT 84112 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8103-711X","authenticated-orcid":false,"given":"Silv\u00e8re M","family":"van der Maarel","sequence":"additional","affiliation":[{"name":"Department of Human Genetics, Leiden University Medical Center , 2300 RC, Leiden , The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2023,9,13]]},"reference":[{"key":"2024020201403602400_awad312-B1","volume-title":"Facioscapulohumeral disease","author":"Padberg","year":"1982"},{"key":"2024020201403602400_awad312-B2","doi-asserted-by":"crossref","first-page":"201","DOI":"10.1136\/practneurol-2015-001353","article-title":"What\u2019s in a name? The clinical features of facioscapulohumeral muscular dystrophy","volume":"16","author":"Mul","year":"2016","journal-title":"Pract Neurol"},{"key":"2024020201403602400_awad312-B3","doi-asserted-by":"crossref","first-page":"611","DOI":"10.1016\/j.nmd.2007.04.002","article-title":"The DUX4 gene at the FSHD1A locus encodes a pro-apoptotic protein","volume":"17","author":"Kowaljow","year":"2007","journal-title":"Neuromuscul Disord"},{"key":"2024020201403602400_awad312-B4","doi-asserted-by":"crossref","first-page":"38","DOI":"10.1016\/j.devcel.2011.11.013","article-title":"DUX4 Activates germline genes, retroelements, and immune mediators: Implications for facioscapulohumeral dystrophy","volume":"22","author":"Geng","year":"2012","journal-title":"Dev Cell"},{"key":"2024020201403602400_awad312-B5","doi-asserted-by":"crossref","first-page":"5901","DOI":"10.1093\/hmg\/ddv315","article-title":"Endogenous DUX4 expression in FSHD myotubes is sufficient to cause cell death and disrupts RNA splicing and cell migration pathways","volume":"24","author":"Rickard","year":"2015","journal-title":"Hum Mol Genet"},{"key":"2024020201403602400_awad312-B6","doi-asserted-by":"crossref","first-page":"925","DOI":"10.1038\/ng.3844","article-title":"Conserved roles of mouse DUX and human DUX4 in activating cleavage-stage genes and MERVL\/HERVL retrotransposons","volume":"49","author":"Hendrickson","year":"2017","journal-title":"Nat Genet"},{"key":"2024020201403602400_awad312-B7","doi-asserted-by":"crossref","first-page":"935","DOI":"10.1038\/ng.3846","article-title":"Conservation and innovation in the DUX4-family gene network","volume":"49","author":"Whiddon","year":"2017","journal-title":"Nat Genet"},{"key":"2024020201403602400_awad312-B8","doi-asserted-by":"crossref","first-page":"941","DOI":"10.1038\/ng.3858","article-title":"DUX-family transcription factors regulate zygotic genome activation in placental mammals","volume":"49","author":"De Iaco","year":"2017","journal-title":"Nat 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4q35-facioscapulohumeral muscular dystrophy (FSHD)","volume":"4","author":"Lunt","year":"1995","journal-title":"Hum Mol Genet"},{"key":"2024020201403602400_awad312-B24","doi-asserted-by":"crossref","first-page":"3488","DOI":"10.1093\/hmg\/ddy236","article-title":"Cis D4Z4 repeat duplications associated with facioscapulohumeral muscular dystrophy type 2","volume":"27","author":"Lemmers","year":"2018","journal-title":"Hum Mol Genet"},{"key":"2024020201403602400_awad312-B25","doi-asserted-by":"crossref","first-page":"e378","DOI":"10.1212\/WNL.0000000000006819","article-title":"Early onset as a marker for disease severity in facioscapulohumeral muscular dystrophy","volume":"92","author":"Goselink","year":"2019","journal-title":"Neurology"},{"key":"2024020201403602400_awad312-B26","doi-asserted-by":"crossref","first-page":"e2273","DOI":"10.1212\/WNL.0000000000007456","article-title":"FSHD1 And FSHD2 form a disease 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