{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T16:36:59Z","timestamp":1787071019047,"version":"build-2736575974"},"reference-count":5,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"5","content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2021,9]]},"abstract":"<jats:p>\n                    Mutations in\n                    <jats:italic toggle=\"yes\">KMT2B<\/jats:italic>\n                    (lysine-specific methyltransferase 2B) gene, which is primarily involved in methylation of Histone3lys4 (H3K4), has been recently described to cause early-onset generalized progressive dystonia (DYT28) by two independent researchers. Unlike other primary dystonias, mutations in\n                    <jats:italic toggle=\"yes\">KMT2B<\/jats:italic>\n                    gene is associated with additional features like dysmorphism (elongated face, bulbous nose), microcephaly, short stature, and multisystemic involvement. Herein, we describe a 13-year-old boy with early-onset, generalized, progressive complex severe dystonia, along with mild intellectual disability, dysmorphism, and dermatological manifestations associated with a novel missense variation in\n                    <jats:italic toggle=\"yes\">KMT2B<\/jats:italic>\n                    gene and also expand the phenotypic spectrum of the same.\n                  <\/jats:p>","DOI":"10.4103\/0028-3886.329561","type":"journal-article","created":{"date-parts":[[2024,9,7]],"date-time":"2024-09-07T15:06:36Z","timestamp":1725721596000},"page":"1400-1401","update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":2,"title":["A Novel Mutation in KMT2B Gene Causing Childhood-onset Generalized Dystonia with Expanded Phenotype from India"],"prefix":"10.4103","volume":"69","author":[{"given":"Hansashree","family":"Padmanabha","sequence":"first","affiliation":[{"name":"Department of Neurology, St Johns Medical College and Hospital, Bengaluru, Karnataka, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Akash M","family":"Awati","sequence":"additional","affiliation":[{"name":"Department of Neurology, St Johns Medical College and Hospital, Bengaluru, Karnataka, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kurian","family":"Thomas","sequence":"additional","affiliation":[{"name":"Department of Neurology, St Johns Medical College and Hospital, Bengaluru, Karnataka, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gosala R K","family":"Sarma","sequence":"additional","affiliation":[{"name":"Department of Neurology, St Johns Medical College and Hospital, Bengaluru, Karnataka, India"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","published-online":{"date-parts":[[2021,10,30]]},"reference":[{"key":"R1-20250925","doi-asserted-by":"crossref","first-page":"97","DOI":"10.1007\/s11910-017-0806-2","article-title":"Emerging monogenic complex hyperkinetic disorders","volume":"17","author":"Carecchio","year":"2017","journal-title":"Curr Neurol Neurosci Rep"},{"key":"R2-20250925","doi-asserted-by":"crossref","first-page":"1377","DOI":"10.1016\/j.ajhg.2016.10.010","article-title":"Haploinsufficiency of KMT2B, encoding the lysine-specific histone methyltransferase 2B, results in early-onset generalized dystonia","volume":"99","author":"Zech","year":"2016","journal-title":"Am J Hum Genet"},{"key":"R3-20250925","doi-asserted-by":"crossref","first-page":"223","DOI":"10.1038\/ng.3740","article-title":"Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia","volume":"49","author":"Meyer","year":"2017","journal-title":"Nat Genet"},{"key":"R4-20250925","doi-asserted-by":"crossref","first-page":"245","DOI":"10.1016\/j.ejpn.2017.11.009","article-title":"Review of the phenotype of early-onset generalized progressive dystonia due to mutations in KMT2B","volume":"22","author":"Gorman","year":"2018","journal-title":"Eur J Paediatr Neurol"},{"key":"R5-20250925","doi-asserted-by":"crossref","first-page":"1087","DOI":"10.1002\/mds.27026","article-title":"KMT2B rare missense variants in generalized dystonia","volume":"32","author":"Zech","year":"2017","journal-title":"Mov Disord"}],"container-title":["Neurology India"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.ovid.com\/10.4103\/0028-3886.329561","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T15:40:24Z","timestamp":1787067624000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.ovid.com\/10.4103\/0028-3886.329561"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,9]]},"references-count":5,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2021]]}},"URL":"https:\/\/doi.org\/10.4103\/0028-3886.329561","relation":{},"ISSN":["0028-3886","1998-4022"],"issn-type":[{"value":"0028-3886","type":"print"},{"value":"1998-4022","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,9]]},"assertion":[{"value":"2018-02-22","name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2019-11-30","name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}}]}}