{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,14]],"date-time":"2025-05-14T14:23:55Z","timestamp":1747232635562,"version":"3.40.5"},"reference-count":11,"publisher":"Instituto Nacional de Salud (Colombia)","issue":"3","license":[{"start":{"date-parts":[[2022,9,2]],"date-time":"2022-09-02T00:00:00Z","timestamp":1662076800000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":["revistabiomedica.org"],"crossmark-restriction":false},"short-container-title":["biomedica"],"abstract":"<jats:p>La diston\u00eda por mutaci\u00f3n en el gen KMT2B es un subtipo recientemente descrito del inicio focal de la enfermedad en los miembros inferiores que, posteriormente, evoluciona a una forma generalizada con compromiso cervical y orofar\u00edngeo, disartria, trastorno secundario de la degluci\u00f3n y discapacidad intelectual.Se describe el caso de una escolar de 10 a\u00f1os de edad, sin antecedentes de consanguinidad ni historia familiar de enfermedad neurol\u00f3gica, que present\u00f3 alteraci\u00f3n de la marcha y diston\u00eda de inicio focal, de curso progresivo a una forma generalizada que afect\u00f3 sus m\u00fasculos orofaciales y bulbares con alteraci\u00f3n significativa del lenguaje y la degluci\u00f3n.Los estudios metab\u00f3licos y sist\u00e9micos, incluidas las neuroim\u00e1genes, no evidenciaron anormalidades. Se hizo una secuenciaci\u00f3n gen\u00f3mica completa y se identific\u00f3 una nueva variante, probablemente patog\u00e9nica heterocigota, en el gen KMT2B, la c.1205delC, p.(Pro402Hisfs*5), que causa desplazamiento en el marco de lectura. Este hallazgo explica el fenotipo de la paciente y la diston\u00eda de inicio temprano autos\u00f3mica dominante.Se reporta una nueva mutaci\u00f3n heterocigota del gen KMT2B como causa de diston\u00eda generalizada de inicio temprano, no reportada en la literatura especializada hasta el momento. El diagn\u00f3stico de esta afecci\u00f3n tiene implicaciones en el tratamiento y el pron\u00f3stico de los pacientes, porque las estrategias terap\u00e9uticas tempranas pueden prevenir su r\u00e1pido deterioro y un curso m\u00e1s grave de la enfermedad.<\/jats:p>","DOI":"10.7705\/biomedica.6296","type":"journal-article","created":{"date-parts":[[2022,9,19]],"date-time":"2022-09-19T19:09:32Z","timestamp":1663614572000},"page":"429-434","update-policy":"https:\/\/doi.org\/10.7705\/crossmark","source":"Crossref","is-referenced-by-count":0,"title":["Nueva mutaci\u00f3n en el gen KMT2B como causa de diston\u00eda generalizada de inicio temprano: reporte de caso"],"prefix":"10.7705","volume":"42","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9264-4396","authenticated-orcid":false,"given":"Yully Andrea","family":"Rangel","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0890-6475","authenticated-orcid":false,"given":"Eugenia","family":"Espinosa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"4444","published-online":{"date-parts":[[2022,9,2]]},"reference":[{"key":"109554","doi-asserted-by":"crossref","unstructured":"Meyer E, Carss KJ, Rankin J, Nichols JME, Grozeva D, Joseph AP, et al. Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia. Nat Genet. 2017;49:223-37. https:\/\/doi.org\/10.1038\/ng.3740","DOI":"10.1038\/ng.3740"},{"key":"109555","doi-asserted-by":"crossref","unstructured":"Carecchio M, Invernizzi F, Gonz\u00e1lez-Latapi P, Panteghini C, Zorzi G, Romito L, et al. Frequency and phenotypic spectrum of KMT2B dystonia in childhood: A single-center cohort study. Mov Disord. 2019;34:1516-27. https:\/\/doi.org\/10.1002\/mds.27771","DOI":"10.1002\/mds.27771"},{"key":"109556","doi-asserted-by":"crossref","unstructured":"Gorman KM, Meyer E, Kurian MA. Review of the phenotype of early-onset generalised progressive dystonia due to mutations in KMT2B. Eur J Paediatr Neurol. 2018;22:245-56. https:\/\/doi.org\/10.1016\/j.ejpn.2017.11.009","DOI":"10.1016\/j.ejpn.2017.11.009"},{"key":"109557","doi-asserted-by":"crossref","unstructured":"Kawarai T, Miyamoto R, Nakagawa E, Koichihara R, Sakamoto T, Mure H, et al. Phenotype variability and allelic heterogeneity in KMT2B -associated disease. Parkinsonism Relat Disord. 2018;52:55-61. https:\/\/doi.org\/10.1016\/j.parkreldis.2018.03.022","DOI":"10.1016\/j.parkreldis.2018.03.022"},{"key":"109558","doi-asserted-by":"crossref","unstructured":"Marogianni C, Georgouli D, Dadouli K, Ntellas P, Rikos D, Hadjigeorgiou GM, et al. Identification of a novel de novo KMT2B variant in a Greek dystonia patient via exome sequencing genotype-phenotype correlations of all published cases. Mol Biol Rep. 2021;48:371-9. https:\/\/doi.org\/10.1007\/s11033-020-06057-3","DOI":"10.1007\/s11033-020-06057-3"},{"key":"109559","doi-asserted-by":"crossref","unstructured":"Zech M, Jech R, Havr\u00e1nkov\u00e1 P, Fe\u010d\u00edkov\u00e1 A, Berutti R, Urgo\u0161\u00edk D, et al. KMT2B rare missense variants in generalized dystonia. Mov Disord. 2017;32:1087-91. https:\/\/doi.org\/10.1002\/mds.27026","DOI":"10.1002\/mds.27026"},{"key":"109560","doi-asserted-by":"crossref","unstructured":"Zech M, Boesch S, Jochim A, Weber S, Meindl T, Schormair B, et al. Clinical exome sequencing in early-onset generalized dystonia and large-scale resequencing follow-up. Mov Disord. 2017;32:549-59. https:\/\/doi.org\/10.1002\/mds.26808","DOI":"10.1002\/mds.26808"},{"key":"109561","doi-asserted-by":"crossref","unstructured":"Powis AZ, Towne MC, Hagman KDF, Blanco K, Palmaer E, Castro A, et al. Clinical diagnostic exome sequencing in dystonia: Genetic testing challenges for complex conditions. Clin Genet. 2020;97:305-11. https:\/\/doi.org\/10.1111\/cge.13657","DOI":"10.1111\/cge.13657"},{"key":"109562","doi-asserted-by":"crossref","unstructured":"Dafsari HS, Sprute R, Wunderlich G, Daimag\u00fcler HS, Karaca E, Contreras A, et al. Novel mutations in KMT2B offer pathophysiological insights into childhood-onset progressive dystonia. J Hum Genet. 2019;64:803-13. https:\/\/doi.org\/10.1038\/s10038-019-0625-1","DOI":"10.1038\/s10038-019-0625-1"},{"key":"109563","doi-asserted-by":"crossref","unstructured":"Mohammad SS, Paget SP, Dale RC. Current therapies and therapeutic decision making for childhood-onset movement disorders. Mov Disord. 2019;34:637-56. https:\/\/doi.org\/10.1002\/mds.27661","DOI":"10.1002\/mds.27661"},{"key":"109564","doi-asserted-by":"crossref","unstructured":"Akano E, Otite F, Lavenstein B, Ehrlich D. Indications, outcomes and cost of pediatric deep brain stimulation surgeries in the United States: An analysis of the Kids\u2019 inpatient sample (P4.8-021). Neurology. 2019;92:4.8-021.","DOI":"10.1212\/WNL.92.15_supplement.P4.8-021"}],"container-title":["Biom\u00e9dica"],"original-title":[],"link":[{"URL":"https:\/\/revistabiomedica.org\/index.php\/biomedica\/article\/download\/6296\/5127","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/revistabiomedica.org\/index.php\/biomedica\/article\/download\/6296\/5127","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,10,4]],"date-time":"2024-10-04T04:11:00Z","timestamp":1728015060000},"score":1,"resource":{"primary":{"URL":"https:\/\/revistabiomedica.org\/index.php\/biomedica\/article\/view\/6296"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,9,2]]},"references-count":11,"journal-issue":{"issue":"3","published-online":{"date-parts":[[2022,9,2]]}},"URL":"https:\/\/doi.org\/10.7705\/biomedica.6296","relation":{},"ISSN":["2590-7379","0120-4157"],"issn-type":[{"type":"electronic","value":"2590-7379"},{"type":"print","value":"0120-4157"}],"subject":[],"published":{"date-parts":[[2022,9,2]]},"assertion":[{"value":"2022-09-02","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}},{"value":"Yes","order":0,"name":"peer_reviewed","label":"Peer Reviewed","group":{"name":"peer_review","label":"Peer Review"}},{"value":"Instituto Nacional de Salud","name":"publisher","label":"This article is maintained by"},{"value":"Biomedica","name":"journaltitle","label":"Journal Title"},{"value":"Presentaci\u00f3n de caso","name":"content_type","label":"Content Type"}]}}