{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,25]],"date-time":"2026-08-25T16:22:04Z","timestamp":1787674924572,"version":"build-2784847793"},"reference-count":17,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2024,6,20]],"date-time":"2024-06-20T00:00:00Z","timestamp":1718841600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2024,6,20]],"date-time":"2024-06-20T00:00:00Z","timestamp":1718841600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["movementdisorders.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Movement Disorders"],"published-print":{"date-parts":[[2024,9]]},"abstract":"Abstract<\/jats:title>\n \n Background<\/jats:title>\n \n Biallelic\n ZBTB11<\/jats:italic>\n variants have previously been associated with an ultrarare subtype of autosomal recessive intellectual developmental disorder (MRT69).\n <\/jats:p>\n <\/jats:sec>\n \n Objective<\/jats:title>\n \n The aim was to provide insights into the clinical and genetic characteristics of\n ZBTB11<\/jats:italic>\n \u2010related disorders (\n ZBTB11<\/jats:italic>\n \u2010RD), with a particular emphasis on progressive complex movement abnormalities.\n <\/jats:p>\n <\/jats:sec>\n \n Methods<\/jats:title>\n \n Thirteen new and 16 previously reported affected individuals, ranging in age from 2 to 50\u2009years, with biallelic\n ZBTB11<\/jats:italic>\n variants underwent clinical and genetic characterization.\n <\/jats:p>\n <\/jats:sec>\n \n Results<\/jats:title>\n All patients exhibited a range of neurodevelopmental phenotypes with varying severity, encompassing ocular and neurological features. Eleven new patients presented with complex abnormal movements, including ataxia, dystonia, myoclonus, stereotypies, and tremor, and 7 new patients exhibited cataracts. Deep brain stimulation was successful in treating 1 patient with generalized progressive dystonia. Our analysis revealed 13 novel variants.<\/jats:p>\n <\/jats:sec>\n \n Conclusions<\/jats:title>\n \n This study provides additional insights into the clinical features and spectrum of\n ZBTB11<\/jats:italic>\n \u2010RD, highlighting the progressive nature of movement abnormalities in the background of neurodevelopmental phenotype.\n <\/jats:p>\n <\/jats:sec>","DOI":"10.1002\/mds.29883","type":"journal-article","created":{"date-parts":[[2024,6,20]],"date-time":"2024-06-20T05:37:23Z","timestamp":1718861843000},"page":"1624-1630","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Biallelic\n ZBTB11<\/i>\n Variants: A Neurodevelopmental Condition with Progressive Complex Movement Disorders"],"prefix":"10.1002","volume":"39","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6320-2641","authenticated-orcid":false,"given":"Juan Dar\u00edo","family":"Ortigoza\u2010Escobar","sequence":"first","affiliation":[{"name":"Movement Disorders Unit, Pediatric Neurology Department Institut de Recerca, Hospital Sant Joan de D\u00e9u Barcelona Barcelona Spain"},{"name":"U\u2010703 Centre for Biomedical Research on Rare Diseases (CIBER\u2010ER), Instituto de Salud Carlos III Barcelona Spain"},{"name":"European Reference Network for Rare Neurological Diseases (ERN\u2010RND) Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7005-3787","authenticated-orcid":false,"given":"Mina","family":"Zamani","sequence":"additional","affiliation":[{"name":"Department of Neuromuscular Diseases UCL Queen Square Institute of Neurology London United Kingdom"},{"name":"Department of Biology, Faculty of Science Shahid Chamran University of Ahvaz Ahvaz Iran"},{"name":"Narges Medical Genetics and Prenatal Diagnosis Laboratory Ahvaz Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nathalie","family":"Dorison","sequence":"additional","affiliation":[{"name":"Unit\u00e9 Dyspa, Neurochirurgie P\u00e9diatrique, H\u00f4pital Fondation Rothschild Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7935-3401","authenticated-orcid":false,"given":"Saeid","family":"Sadeghian","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology, Golestan Medical, Educational, and Research Centre Ahvaz Jundishapur University of Medical Sciences Ahvaz Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Reza","family":"Azizimalamiri","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology, Golestan Medical, Educational, and Research Centre Ahvaz Jundishapur University of Medical Sciences Ahvaz Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3452-1862","authenticated-orcid":false,"given":"Javeria Raza","family":"Alvi","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology The Children's Hospital and the University of Child Health Sciences Lahore Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9398-2127","authenticated-orcid":false,"given":"Tipu","family":"Sultan","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology The Children's Hospital and the University of Child Health Sciences Lahore Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hamid","family":"Galehdari","sequence":"additional","affiliation":[{"name":"Department of Biology, Faculty of Science Shahid Chamran University of Ahvaz Ahvaz Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6295-127X","authenticated-orcid":false,"given":"Gholamreza","family":"Shariati","sequence":"additional","affiliation":[{"name":"Narges Medical Genetics and Prenatal Diagnosis Laboratory Ahvaz Iran"},{"name":"Department of Medical Genetics, Faculty of Medicine Ahvaz Jundishapur University of Medical Sciences Ahvaz Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4360-9118","authenticated-orcid":false,"given":"Alihossein","family":"Saberi","sequence":"additional","affiliation":[{"name":"Narges Medical Genetics and Prenatal Diagnosis Laboratory Ahvaz Iran"},{"name":"Department of Medical Genetics, Faculty of Medicine Ahvaz Jundishapur University of Medical Sciences Ahvaz Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1105-0455","authenticated-orcid":false,"given":"Lisette","family":"Leeuwen","sequence":"additional","affiliation":[{"name":"Department of Genetics University Medical Center Groningen, University of Groningen Groningen The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5567-8300","authenticated-orcid":false,"given":"Giovanni","family":"Zifarelli","sequence":"additional","affiliation":[{"name":"CENTOGENE GmbH Rostock Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9414-4555","authenticated-orcid":false,"given":"Peter","family":"Bauer","sequence":"additional","affiliation":[{"name":"CENTOGENE GmbH Rostock Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vincent","family":"d'Hardemare","sequence":"additional","affiliation":[{"name":"Unit\u00e9 Dyspa, Neurochirurgie P\u00e9diatrique, H\u00f4pital Fondation Rothschild Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3376-3069","authenticated-orcid":false,"given":"Diane","family":"Doummar","sequence":"additional","affiliation":[{"name":"AP\u2010HP. Sorbonne Universit\u00e9, Service de Neurop\u00e9diatrie et Centre de R\u00e9f\u00e9rence Neurog\u00e9n\u00e9tique, H\u00f4pital Armand Trousseau, FHU I2D2 Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9727-3459","authenticated-orcid":false,"given":"Emmanuel","family":"Roze","sequence":"additional","affiliation":[{"name":"Assistance Publique\u2013H\u00f4pitaux de Paris CHU Piti\u00e9\u2010Salp\u00eatri\u00e8re DMU Neurosciences et Sorbonne Universit\u00e9, INSERM, CNRS, Institut du Cerveau Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0142-6516","authenticated-orcid":false,"given":"Lorena","family":"Travaglini","sequence":"additional","affiliation":[{"name":"Laboratory of Medical Genetics Translational Cytogenomics Research Unit, IRCCS, Bambino Ges\u00f9 Children's Hospital Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5612-821X","authenticated-orcid":false,"given":"Francesco","family":"Nicita","sequence":"additional","affiliation":[{"name":"Unit of Neuromuscular and Neurodegenerative Disorders, IRCCS Bambino Ges\u00f9 Children's Hospital of Rome Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0001-4027-9507","authenticated-orcid":false,"given":"N\u00faria","family":"Ojea Ponce","sequence":"additional","affiliation":[{"name":"Department of Statistics Institut de Recerca Sant Joan de D\u00e9u Barcelona Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2277-7614","authenticated-orcid":false,"given":"Seyed Mohammadsaleh","family":"Zahraei","sequence":"additional","affiliation":[{"name":"Department of Biology, Faculty of Science Shahid Chamran University of Ahvaz Ahvaz Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lama","family":"Alabdi","sequence":"additional","affiliation":[{"name":"Department of Translational Genomics, Center for Genomic Medicine King Faisal Specialist Hospital and Research Center Riyadh Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0005-1878-9446","authenticated-orcid":false,"given":"Abdullah","family":"Tamim","sequence":"additional","affiliation":[{"name":"Division of Genetics, Department of Pediatrics King Abdullah Specialized Children Hospital, King Abdulaziz Medical City, MNGHA Riyadh Saudi Arabia"},{"name":"King Abdullah International Medical Research Center, King Saud Bin Abdulaziz University for Health Sciences Riyadh Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mais O.","family":"Hashem","sequence":"additional","affiliation":[{"name":"Department of Translational Genomics, Center for Genomic Medicine King Faisal Specialist Hospital and Research Center Riyadh Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Faroug","family":"Ababneh","sequence":"additional","affiliation":[{"name":"Division of Genetics, Department of Pediatrics King Abdullah Specialized Children Hospital, King Abdulaziz Medical City, MNGHA Riyadh Saudi Arabia"},{"name":"King Abdullah International Medical Research Center, King Saud Bin Abdulaziz University for Health Sciences Riyadh Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9475-0934","authenticated-orcid":false,"given":"Michelle M","family":"Morrow","sequence":"additional","affiliation":[{"name":"GeneDx Gaithersburg Maryland USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cynthia","family":"Curry","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Genetic Medicine, UCSF\/Fresno Fresno California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6940-9240","authenticated-orcid":false,"given":"Allison","family":"Tam","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics, Department of Pediatrics University of California San Francisco San Francisco California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jessica","family":"Ruedy","sequence":"additional","affiliation":[{"name":"Genetics Clinic, Children's MN Minneapolis Minnesota USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vikas","family":"Bhambhani","sequence":"additional","affiliation":[{"name":"Genetics Clinic, Children's MN Minneapolis Minnesota USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Regan","family":"Veith","sequence":"additional","affiliation":[{"name":"Genetics Clinic, Children's MN Minneapolis Minnesota USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3421-8131","authenticated-orcid":false,"given":"Petter","family":"Str\u00f8mme","sequence":"additional","affiliation":[{"name":"Division of Pediatrics and Adolescent Medicine, Oslo University Hospital and Faculty of Medicine, University of Oslo Oslo Norway"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4900-9877","authenticated-orcid":false,"given":"Stephanie","family":"Efthymiou","sequence":"additional","affiliation":[{"name":"Department of Neuromuscular Diseases UCL Queen Square Institute of Neurology London United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fowzan S","family":"Alkuraya","sequence":"additional","affiliation":[{"name":"Department of Translational Genomics, Center for Genomic Medicine King Faisal Specialist Hospital and Research Center Riyadh Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2732-4043","authenticated-orcid":false,"given":"Andres","family":"Moreno\u2010De\u2010Luca","sequence":"additional","affiliation":[{"name":"Department of Radiology, Neuroradiology Section, Kingston Health Sciences Centre Queen's University Faculty of Health Sciences Kingston Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1119-6809","authenticated-orcid":false,"given":"Lydie","family":"Burglen","sequence":"additional","affiliation":[{"name":"Centre de R\u00e9f\u00e9rence Maladies Rares \u201cMalformations et Maladies Cong\u00e9nitales du Cervelet,\u201d H\u00f4pital Trousseau, APHP, Sorbonne University Paris France"},{"name":"D\u00e9partement de G\u00e9n\u00e9tique APHP, Sorbonne University Paris France"},{"name":"Developmental Brain Disorders Laboratory, Imagine Institute, INSERM UMR Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2866-7777","authenticated-orcid":false,"given":"Henry","family":"Houlden","sequence":"additional","affiliation":[{"name":"Department of Neuromuscular Diseases UCL Queen Square Institute of Neurology London United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Reza","family":"Maroofian","sequence":"additional","affiliation":[{"name":"Department of Neuromuscular Diseases UCL Queen Square Institute of Neurology London United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2024,6,20]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awac034"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awac323"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddy220"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2019.04.011"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.celrep.2022.110524"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41467-020-19205-x"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1995.tb04045.x"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41582-021-00595-5"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13024-022-00524-0"},{"key":"e_1_2_10_11_1","doi-asserted-by":"publisher","DOI":"10.3389\/fneur.2020.630391"},{"key":"e_1_2_10_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.27828"},{"key":"e_1_2_10_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.29241"},{"key":"e_1_2_10_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gim.2021.12.002"},{"key":"e_1_2_10_15_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.14165"},{"key":"e_1_2_10_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/jimd.12032"},{"key":"e_1_2_10_17_1","first-page":"131","article-title":"DNA methylation level of transcription factor binding site in the promoter region of acyl\u2010CoA synthetase family member 3 (ACSF3) in Saudi autistic children","volume":"15","author":"Algothmi K","year":"2022","journal-title":"Pharmgenomics Pers Med"},{"key":"e_1_2_10_18_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-8-98"}],"container-title":["Movement Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/movementdisorders.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mds.29883","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/movementdisorders.onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/mds.29883","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/movementdisorders.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mds.29883","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,8,25]],"date-time":"2026-08-25T15:53:36Z","timestamp":1787673216000},"score":1,"resource":{"primary":{"URL":"https:\/\/movementdisorders.onlinelibrary.wiley.com\/doi\/10.1002\/mds.29883"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,6,20]]},"references-count":17,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2024,9]]}},"alternative-id":["10.1002\/mds.29883"],"URL":"https:\/\/doi.org\/10.1002\/mds.29883","archive":["Portico"],"relation":{},"ISSN":["0885-3185","1531-8257"],"issn-type":[{"value":"0885-3185","type":"print"},{"value":"1531-8257","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,6,20]]},"assertion":[{"value":"2023-07-18","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-05-20","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-06-20","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}