{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,9]],"date-time":"2026-10-09T09:00:27Z","timestamp":1791536427178,"version":"4.3.4"},"reference-count":53,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2024,4,29]],"date-time":"2024-04-29T00:00:00Z","timestamp":1714348800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/100000065","name":"National Institute of Neurological Disorders and Stroke","doi-asserted-by":"publisher","award":["P50NS053672"],"award-info":[{"award-number":["P50NS053672"]}],"id":[{"id":"10.13039\/100000065","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2024,7]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>The gold standard for facioscapulohumeral muscular dystrophy (FSHD) genetic diagnostic procedures was published in 2012. With the increasing complexity of the genetics of FSHD1 and 2, the increase of genetic testing centers, and the start of clinical trials for FSHD, it is crucial to provide an update on our knowledge of the genetic features of the FSHD loci and renew the international consensus on the molecular testing recommendations. To this end, members of the FSHD European Trial Network summarized the evidence presented during the 2022 ENMC meeting on Genetic diagnosis, clinical outcome measures, and biomarkers. The working group additionally invited genetic and clinical experts from the USA, India, Japan, Australia, South\u2010Africa, and Brazil to provide a global perspective. Six virtual meetings were organized to reach consensus on the minimal requirements for genetic confirmation of FSHD1 and FSHD2. Here, we present the clinical and genetic features of FSHD, specific features of FSHD1 and FSHD2, pros and cons of established and new technologies (Southern blot in combination with either linear or pulsed\u2010field gel electrophoresis, molecular combing, optical genome mapping, FSHD2 methylation analysis and FSHD2 genotyping), the possibilities and challenges of prenatal testing, including pre\u2010implantation genetic testing, and the minimal requirements and recommendations for genetic confirmation of FSHD1 and FSHD2. This consensus is expected to contribute to current clinical management and trial\u2010readiness for FSHD.<\/jats:p>","DOI":"10.1111\/cge.14533","type":"journal-article","created":{"date-parts":[[2024,4,29]],"date-time":"2024-04-29T23:49:05Z","timestamp":1714434545000},"page":"13-26","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":52,"title":["Best practice guidelines on genetic diagnostics of facioscapulohumeral muscular dystrophy: Update of the 2012 guidelines"],"prefix":"10.1111","volume":"106","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2741-5009","authenticated-orcid":false,"given":"Emiliano","family":"Giardina","sequence":"first","affiliation":[{"name":"Genomic Medicine Laboratory UILDM IRCCS Fondazione Santa Lucia  Rome Italy"},{"name":"Department of Biomedicine &amp; Prevention Tor Vergata University of Rome  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4116-5579","authenticated-orcid":false,"given":"Pilar","family":"Cama\u00f1o","sequence":"additional","affiliation":[{"name":"Molecular Diagnostics Platform Biogipuzkoa Health Research Institute, Hospital Universitario Donostia  San Sebasti\u00e1n Spain"},{"name":"CIBERNED, CIBER, Spanish Ministry of Science &amp; Innovation Carlos III Health Institute  Madrid Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0002-4403-1477","authenticated-orcid":false,"given":"Sarah","family":"Burton\u2010Jones","sequence":"additional","affiliation":[{"name":"South West Genomics Laboratory Hub Southmead Hospital  Bristol UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3634-211X","authenticated-orcid":false,"given":"Gina","family":"Ravenscroft","sequence":"additional","affiliation":[{"name":"Harry Perkins Institute of Medical Research University of Western Australia  Nedlands Western Australia Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4006-8101","authenticated-orcid":false,"given":"Franclo","family":"Henning","sequence":"additional","affiliation":[{"name":"Division of Neurology, Department of Medicine, Faculty of Medicine and Health Sciences Stellenbosch University  Cape Town South Africa"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0159-9559","authenticated-orcid":false,"given":"Frederique","family":"Magdinier","sequence":"additional","affiliation":[{"name":"Aix Marseille Univ, INSERM, Marseille Medical Genetics  Marseille France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0606-8922","authenticated-orcid":false,"given":"Nienke","family":"van der Stoep","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Leiden University Medical Center  The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9901-4784","authenticated-orcid":false,"given":"Patrick J.","family":"van der Vliet","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Leiden University Medical Center  The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0005-8004-5501","authenticated-orcid":false,"given":"Rafa\u00eblle","family":"Bernard","sequence":"additional","affiliation":[{"name":"Aix Marseille Univ, INSERM, Marseille Medical Genetics  Marseille France"},{"name":"Centre Hospitalier Universitaire Timone Adultes, Biog\u00e9nop\u00f4le, Service de G\u00e9n\u00e9tique M\u00e9dicale  Marseille France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1485-3771","authenticated-orcid":false,"given":"Pedro J.","family":"Tomaselli","sequence":"additional","affiliation":[{"name":"Department of Neurosciences, Division of Neurology Ribeirao Preto Medical School, University of S\u00e3o Paulo  Ribeir\u00e3o Preto Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0626-9030","authenticated-orcid":false,"given":"Mark R.","family":"Davis","sequence":"additional","affiliation":[{"name":"Department of Diagnostic Genomics PathWest Laboratory Medicine  Perth Western Australia Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9452-112X","authenticated-orcid":false,"given":"Ichizo","family":"Nishino","sequence":"additional","affiliation":[{"name":"Department of Neuromuscular Research, National Institute of Neuroscience National Center of Neurology and Psychiatry (NCNP)  Tokyo Japan"},{"name":"Department of Genome Medicine Development Clinical Genome Analysis, Medical Genome Center (MGC), National Center of Neurology and Psychiatry (NCNP)  Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8202-5313","authenticated-orcid":false,"given":"Piraye","family":"Oflazer","sequence":"additional","affiliation":[{"name":"Department of Neurology Ko\u00e7 University Hospital Muscle Center, Ko\u00e7 University Medical Faculty  Istanbul Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0008-8708-6340","authenticated-orcid":false,"given":"Valerie","family":"Race","sequence":"additional","affiliation":[{"name":"Clinical Laboratory Geneticist Human Genetics, UZ Leuven  Leuven Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3654-8137","authenticated-orcid":false,"given":"Venugopalan Y.","family":"Vishnu","sequence":"additional","affiliation":[{"name":"Department of Neurology All India Institute of Medical Sciences (AIIMS)  Delhi India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0834-7426","authenticated-orcid":false,"given":"Victoria","family":"Williams","sequence":"additional","affiliation":[{"name":"EMQN CIC  Manchester UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7420-1644","authenticated-orcid":false,"given":"Cl\u00e1udia F. R.","family":"Sobreira","sequence":"additional","affiliation":[{"name":"Department of Neurosciences, Division of Neurology Ribeirao Preto Medical School, University of S\u00e3o Paulo  Ribeir\u00e3o Preto Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8103-711X","authenticated-orcid":false,"given":"Silvere M.","family":"van der Maarel","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Leiden University Medical Center  The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6353-7900","authenticated-orcid":false,"given":"Steve A.","family":"Moore","sequence":"additional","affiliation":[{"name":"Senator Paul D. Wellstone Muscular Dystrophy Specialized Research Center, Department of Pathology Roy J. And Lucille A. Carver College of Medicine, The University of Iowa  Iowa City Iowa USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5837-7295","authenticated-orcid":false,"given":"Nicol C.","family":"Voermans","sequence":"additional","affiliation":[{"name":"Department of Neurology Radboud university medical center  Nijmegen The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7102-710X","authenticated-orcid":false,"given":"Richard J. L. F.","family":"Lemmers","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Leiden University Medical Center  The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2024,4,29]]},"reference":[{"key":"e_1_2_13_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2023.04.005"},{"key":"e_1_2_13_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2011.09.004"},{"key":"e_1_2_13_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2021.07.013"},{"key":"e_1_2_13_5_1","doi-asserted-by":"publisher","DOI":"10.1159\/000494115"},{"key":"e_1_2_13_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2017.09.007"},{"key":"e_1_2_13_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.25326"},{"key":"e_1_2_13_8_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000005915"},{"key":"e_1_2_13_9_1","doi-asserted-by":"publisher","DOI":"10.1136\/practneurol-2015-001353"},{"key":"e_1_2_13_10_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000000797"},{"key":"e_1_2_13_11_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddu486"},{"key":"e_1_2_13_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.880181309"},{"key":"e_1_2_13_13_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1189044"},{"key":"e_1_2_13_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng999"},{"key":"e_1_2_13_15_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2454"},{"key":"e_1_2_13_16_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0b013e3181f96175"},{"key":"e_1_2_13_17_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.34.6.476"},{"key":"e_1_2_13_18_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.52.9.1822"},{"key":"e_1_2_13_19_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000002217"},{"key":"e_1_2_13_20_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/4.5.951"},{"key":"e_1_2_13_21_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2003.07.001"},{"key":"e_1_2_13_22_1","doi-asserted-by":"publisher","DOI":"10.1086\/521986"},{"key":"e_1_2_13_23_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2011-100454"},{"key":"e_1_2_13_24_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-014-0218-1"},{"key":"e_1_2_13_25_1","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2350-14-92"},{"key":"e_1_2_13_26_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2013.02.002"},{"key":"e_1_2_13_27_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jns.2003.12.010"},{"key":"e_1_2_13_28_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2011.12.001"},{"key":"e_1_2_13_29_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2008.06.387"},{"key":"e_1_2_13_30_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2013.08.004"},{"issue":"1","key":"e_1_2_13_31_1","first-page":"99","article-title":"High proportion of new mutations and possible anticipation in Brazilian facioscapulohumeral muscular dystrophy families","volume":"56","author":"Zatz M","year":"1995","journal-title":"Am J Hum Genet"},{"key":"e_1_2_13_32_1","doi-asserted-by":"publisher","DOI":"10.1086\/302730"},{"key":"e_1_2_13_33_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41431-017-0015-0"},{"key":"e_1_2_13_34_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2015.08.004"},{"issue":"3","key":"e_1_2_13_35_1","first-page":"329","article-title":"Facioscapulohumeral muscular dystrophy (landouzy\u2010dejerine type) in a Nigerian female: a case report","volume":"15","author":"Anisiuba BC","year":"2006","journal-title":"Niger J Med"},{"issue":"1","key":"e_1_2_13_36_1","first-page":"135","article-title":"Clinico\u2010pathological diagnosis of facioscapulohumeral dystrophy in a 22\u2010year\u2010old male","volume":"16","author":"Ayele BAIR","year":"2019","journal-title":"Sudan J Med Sci"},{"key":"e_1_2_13_37_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2010.01.035"},{"key":"e_1_2_13_38_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2019-106168"},{"key":"e_1_2_13_39_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2016.03.013"},{"key":"e_1_2_13_40_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000009617"},{"key":"e_1_2_13_41_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddy236"},{"key":"e_1_2_13_42_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2015.55"},{"key":"e_1_2_13_43_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000011412"},{"key":"e_1_2_13_44_1","doi-asserted-by":"publisher","DOI":"10.3233\/JND-180376"},{"key":"e_1_2_13_45_1","doi-asserted-by":"publisher","DOI":"10.1038\/jhg.2016.116"},{"key":"e_1_2_13_46_1","doi-asserted-by":"publisher","DOI":"10.1001\/jamanetworkopen.2020.4040"},{"key":"e_1_2_13_47_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10048-019-00575-4"},{"key":"e_1_2_13_48_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.14031"},{"key":"e_1_2_13_49_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.21671"},{"key":"e_1_2_13_50_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.13726"},{"key":"e_1_2_13_51_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awab326"},{"key":"e_1_2_13_52_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-016-8123-2"},{"key":"e_1_2_13_53_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2022.10.005"},{"key":"e_1_2_13_54_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2006.07.013"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.14533","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,6,3]],"date-time":"2024-06-03T00:50:12Z","timestamp":1717375812000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/cge.14533"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,4,29]]},"references-count":53,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2024,7]]}},"alternative-id":["10.1111\/cge.14533"],"URL":"https:\/\/doi.org\/10.1111\/cge.14533","archive":["Portico"],"relation":{"has-review":[{"id-type":"doi","id":"10.1111\/CGE.14533\/v1\/review1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14533\/v1\/review2","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14533\/v2\/response1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14533\/v1\/decision1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14533\/v3\/review1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14533\/v3\/decision1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14533\/v2\/review2","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14533\/v2\/review1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14533\/v3\/response1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14533\/v2\/decision1","asserted-by":"object"}]},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,4,29]]},"assertion":[{"value":"2023-12-07","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-04-02","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-04-29","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}