{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,17]],"date-time":"2026-06-17T16:06:22Z","timestamp":1781712382914,"version":"3.54.5"},"reference-count":11,"publisher":"Oxford University Press (OUP)","issue":"6","license":[{"start":{"date-parts":[[2022,10,26]],"date-time":"2022-10-26T00:00:00Z","timestamp":1666742400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Ministry of Health","award":["RCR-2020-23670068_001, RCR-2021-23671215 to"],"award-info":[{"award-number":["RCR-2020-23670068_001, RCR-2021-23671215 to"]}]},{"name":"Ministry of Research"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2022,11,2]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>KMT2B-related dystonia (DYT-KMT2B, also known as DYT28) is an autosomal dominant neurological disorder characterized by varying combinations of generalized dystonia, psychomotor developmental delay, mild-to-moderate intellectual disability and short stature. Disease onset occurs typically before 10 years of age. We report the clinical and genetic findings of a series of subjects affected by adult-onset dystonia, hearing loss or intellectual disability carrying rare heterozygous KMT2B variants. Twelve cases from five unrelated families carrying four rare KMT2B missense variants predicted to impact protein function are described. Seven affected subjects presented with adult-onset focal or segmental dystonia, three developed isolated progressive hearing loss, and one displayed intellectual disability and short stature. Genome-wide DNA methylation profiling allowed to discriminate these adult-onset dystonia cases from controls and early-onset DYT-KMT2B patients. These findings document the relevance of KMT2B variants as a potential genetic determinant of adult-onset dystonia and prompt to further characterize KMT2B carriers investigating non-dystonic features.<\/jats:p>","DOI":"10.1093\/braincomms\/fcac276","type":"journal-article","created":{"date-parts":[[2022,10,24]],"date-time":"2022-10-24T21:12:44Z","timestamp":1666645964000},"source":"Crossref","is-referenced-by-count":13,"title":["Adult-onset KMT2B-related dystonia"],"prefix":"10.1093","volume":"4","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4720-9234","authenticated-orcid":false,"given":"Edoardo","family":"Monfrini","sequence":"first","affiliation":[{"name":"Dino Ferrari Center, Neuroscience Section, Department of Pathophysiology and Transplantation, University of Milan , Milan 20122 , Italy"},{"name":"Foundation IRCCS Ca\u2019 Granda Ospedale Maggiore Policlinico, Neurology Unit , Milan 20122 , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrea","family":"Ciolfi","sequence":"additional","affiliation":[{"name":"Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Ges\u00f9, IRCCS , Rome 00146 , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesco","family":"Cavallieri","sequence":"additional","affiliation":[{"name":"Neurology Unit, Neuromotor & Rehabilitation Department, Azienda USL-IRCCS di Reggio Emilia , Reggio Emilia 42124 , Italy"},{"name":"Clinical and Experimental Medicine PhD Program, University of Modena and Reggio Emilia , Reggio Emilia 42124 , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marco","family":"Ferilli","sequence":"additional","affiliation":[{"name":"Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Ges\u00f9, IRCCS , Rome 00146 , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paola","family":"Soliveri","sequence":"additional","affiliation":[{"name":"Parkinson Institute, ASST G. Pini-CTO , Milan 20126 , Italy"},{"name":"Fondazione Grigioni per il Morbo di Parkinson , Milan 20125 , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lucia","family":"Pedace","sequence":"additional","affiliation":[{"name":"Department of Onco-Hematology, Cell Therapy, Gene Therapy and Hemopoietic Transplant, Ospedale Pediatrico Bambino Ges\u00f9, IRCCS , Rome 00165 , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roberto","family":"Erro","sequence":"additional","affiliation":[{"name":"Department of Medicine, Surgery and Dentistry \u2018Scuola Medica Salernitana\u2019, Neuroscience Section, University of Salerno , Baronissi, SA 84081 , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesca","family":"Del Sorbo","sequence":"additional","affiliation":[{"name":"Parkinson Institute, ASST G. 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Besta , Milano 20126 , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Valentina","family":"Oppo","sequence":"additional","affiliation":[{"name":"Department of Neuroscience, Brotzu Hospital , Cagliari 09047 , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniela","family":"Murgia","sequence":"additional","affiliation":[{"name":"Department of Neuroscience, Brotzu Hospital , Cagliari 09047 , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bruno","family":"Giometto","sequence":"additional","affiliation":[{"name":"Neurology Unit, Trento Hospital, Azienda Provinciale per i Servizi Sanitari (APSS) di Trento , Trento 38122 , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marina","family":"Picillo","sequence":"additional","affiliation":[{"name":"Department of Medicine, Surgery and Dentistry \u2018Scuola Medica Salernitana\u2019, Neuroscience Section, University of Salerno , Baronissi, SA 84081 , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Barbara","family":"Garavaglia","sequence":"additional","affiliation":[{"name":"Medical Genetics and Neurogenetics Unit, Fondazione IRCCS Istituto Neurologico C. 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