{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,3]],"date-time":"2026-04-03T00:23:27Z","timestamp":1775175807714,"version":"3.50.1"},"reference-count":9,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2021,9,8]],"date-time":"2021-09-08T00:00:00Z","timestamp":1631059200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100014148","name":"Centro Hospitalar Universit\u00e1rio do Porto","doi-asserted-by":"publisher","award":["Investigation grant 2017"],"award-info":[{"award-number":["Investigation grant 2017"]}],"id":[{"id":"10.13039\/501100014148","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2021,12]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Hereditary cerebellar ataxias comprise a heterogeneous group of neurodegenerative disorders affecting the cerebellum and\/or cerebellar pathways. Next\u2010generation sequencing techniques have contributed substantially to the expansion of ataxia\u2010causing genes, including genes classically described in alternative phenotypes. Herein, we describe a patient with adult\u2010onset cerebellar ataxia, minor dystonia, neuropathy, seizure and ophthalmological pathology, who bears a novel variant in\n                    <jats:italic>KMT2B<\/jats:italic>\n                    (NM_014727.2:c.3334\u2009+\u20091G\u2009&gt;\u2009A). Bioinformatic analysis suggested this variant completely abolished the splice\u2010site at exon 8\/intron 8, which was confirmed through analysis of mRNA extracted from fibroblasts. Exon 8 skipping would ultimately translate as an in\u2010frame deletion at the protein level, corresponding to the loss of 91 aminoacids [p.(Gly1020_Asn1111del)]. So far,\n                    <jats:italic>KMT2B<\/jats:italic>\n                    disease causing variants have been described in patients with dystonia or neurodevelopmental delay, with no reports of a cerebellar predominant phenotype. Our findings highlight the possible role of\n                    <jats:italic>KMT2B<\/jats:italic>\n                    as a gene involved in hereditary cerebellar ataxias.\n                  <\/jats:p>","DOI":"10.1111\/cge.14055","type":"journal-article","created":{"date-parts":[[2021,9,3]],"date-time":"2021-09-03T06:01:42Z","timestamp":1630648902000},"page":"743-747","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Novel\n                    <scp>\n                      <i>KMT2B<\/i>\n                    <\/scp>\n                    mutation causes cerebellar ataxia: Expanding the clinical phenotype"],"prefix":"10.1111","volume":"100","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6539-6398","authenticated-orcid":false,"given":"Joana","family":"Dam\u00e1sio","sequence":"first","affiliation":[{"name":"Neurology Department Centro Hospitalar Universit\u00e1rio do Porto  Porto Portugal"},{"name":"UnIGENe, i3S \u2010 Instituto de Investiga\u00e7\u00e3o e Inova\u00e7\u00e3o em Sa\u00fade Universidade do Porto  Porto Portugal"},{"name":"CGPP \u2010 Centro de Gen\u00e9tica Preditiva e Preventiva, IBMC \u2010 Instituto de Biologia Molecular e Celular Universidade do Porto  Porto Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mariana","family":"Santos","sequence":"additional","affiliation":[{"name":"UnIGENe, i3S \u2010 Instituto de Investiga\u00e7\u00e3o e Inova\u00e7\u00e3o em Sa\u00fade Universidade do Porto  Porto Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Raquel","family":"Sam\u00f5es","sequence":"additional","affiliation":[{"name":"Neurology Department Centro Hospitalar Universit\u00e1rio do Porto  Porto Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria","family":"Ara\u00fajo","sequence":"additional","affiliation":[{"name":"Ophtalmology Department Centro Hospitalar Universit\u00e1rio do Porto  Porto Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mafalda","family":"Macedo","sequence":"additional","affiliation":[{"name":"Ophtalmology Department Centro Hospitalar Universit\u00e1rio do Porto  Porto Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ana","family":"Sardoeira","sequence":"additional","affiliation":[{"name":"Neurology Department Centro Hospitalar Universit\u00e1rio do Porto  Porto Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sara","family":"Cavaco","sequence":"additional","affiliation":[{"name":"Neuropsychology Unit Centro Hospitalar Universit\u00e1rio do Porto  Porto Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Joel","family":"Freitas","sequence":"additional","affiliation":[{"name":"Neurophysiology Department Centro Hospitalar Universit\u00e1rio do Porto  Porto Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jos\u00e9","family":"Barros","sequence":"additional","affiliation":[{"name":"Neurology Department Centro Hospitalar Universit\u00e1rio do Porto  Porto Portugal"},{"name":"ICBAS School of Medicine and Biomedical Sciences Universidade do Porto  Porto Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3924-6385","authenticated-orcid":false,"given":"Jorge","family":"Oliveira","sequence":"additional","affiliation":[{"name":"UnIGENe, i3S \u2010 Instituto de Investiga\u00e7\u00e3o e Inova\u00e7\u00e3o em Sa\u00fade Universidade do Porto  Porto Portugal"},{"name":"CGPP \u2010 Centro de Gen\u00e9tica Preditiva e Preventiva, IBMC \u2010 Instituto de Biologia Molecular e Celular Universidade do Porto  Porto Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jorge","family":"Sequeiros","sequence":"additional","affiliation":[{"name":"UnIGENe, i3S \u2010 Instituto de Investiga\u00e7\u00e3o e Inova\u00e7\u00e3o em Sa\u00fade Universidade do Porto  Porto Portugal"},{"name":"CGPP \u2010 Centro de Gen\u00e9tica Preditiva e Preventiva, IBMC \u2010 Instituto de Biologia Molecular e Celular Universidade do Porto  Porto Portugal"},{"name":"ICBAS School of Medicine and Biomedical Sciences Universidade do Porto  Porto Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2021,9,8]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1001\/jamaneurol.2017.5121"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2016.10.010"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.3740"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awaa304"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.27771"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejpn.2017.11.009"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.parkreldis.2018.08.021"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1001\/jamapsychiatry.2016.3798"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2017.11.013"}],"container-title":["Clinical 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