{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T19:04:05Z","timestamp":1790708645188,"version":"4.1.0"},"reference-count":10,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2026,4,28]],"date-time":"2026-04-28T00:00:00Z","timestamp":1777334400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2026,4,28]],"date-time":"2026-04-28T00:00:00Z","timestamp":1777334400000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2026,10]]},"abstract":"ABSTRACT<\/jats:title>\n \n Pathogenic\n TUBB2A<\/jats:italic>\n variants are known to cause a rare form of autosomal dominant tubulinopathy. Our aim is to expand the phenotypic spectrum of\n TUBB2A<\/jats:italic>\n by documenting a milder phenotype caused by a previously unreported pathogenic variant. We report a newly diagnosed case of\n TUBB2A<\/jats:italic>\n tubulinopathy with novel clinical findings of ataxia with preserved ambulation into adulthood, in addition to the already characteristic findings of global developmental delay in childhood, cortical malformations, and epilepsy. Informed consent was obtained for this publication. A 40\u2009year\u2010old man presented to the clinic with a history of global developmental delay, intellectual disability, myoclonic epilepsy, cerebellar ataxia and cortical malformations. We performed exome sequencing, which revealed a monoallelic variant in\n TUBB2A<\/jats:italic>\n NM_001069.3: c.620\u2009T>C;p.(Leu207Pro) classified as likely pathogenic.\n TUBB2A<\/jats:italic>\n variants may cause slowly progressive ataxia along with global developmental delay and epilepsy. This case widens the phenotypical spectrum and provides a new clinical clue for physicians.\n <\/jats:p>","DOI":"10.1002\/ajmg.a.70183","type":"journal-article","created":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T04:00:17Z","timestamp":1777435217000},"page":"2393-2395","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["A Novel\n \n TUBB2A<\/i>\n <\/scp>\n Variant Causing Ataxia With Preserved Ambulation Into Adulthood"],"prefix":"10.1002","volume":"200","author":[{"ORCID":"https:\/\/orcid.org\/0009-0009-6455-3716","authenticated-orcid":false,"given":"Jo\u00e3o Cl\u00e1udio","family":"da Costa Urbano","sequence":"first","affiliation":[{"name":"Department of Neurology Hospital das Cl\u00ednicas da Faculdade de Medicina da Universidade de S\u00e3o Paulo S\u00e3o Paulo S\u00e3o Paulo Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S\u00e9rgio Roberto Pereira","family":"da Silva J\u00fanior","sequence":"additional","affiliation":[{"name":"Department of Neurology Hospital das Cl\u00ednicas da Faculdade de Medicina da Universidade de S\u00e3o Paulo S\u00e3o Paulo S\u00e3o Paulo Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0335-8799","authenticated-orcid":false,"given":"Matheus Augusto Ara\u00fajo","family":"Castro","sequence":"additional","affiliation":[{"name":"Department of Neurology Hospital das Cl\u00ednicas da Faculdade de Medicina da Universidade de S\u00e3o Paulo S\u00e3o Paulo S\u00e3o Paulo Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paulo Ribeiro","family":"N\u00f3brega","sequence":"additional","affiliation":[{"name":"Department of Neurology Hospital das Cl\u00ednicas da Faculdade de Medicina da Universidade de S\u00e3o Paulo S\u00e3o Paulo S\u00e3o Paulo Brazil"},{"name":"Department of Clinical Medicine Universidade Federal Do Cear\u00e1 Fotaleza Cear\u00e1 Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jos\u00e9 Tarc\u00edsio Medeiros","family":"de Vasconcelos","sequence":"additional","affiliation":[{"name":"Hospital Benefic\u00eancia Portuguesa de S\u00e3o Paulo S\u00e3o Paulo S\u00e3o Paulo Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leandro Tavares","family":"Lucato","sequence":"additional","affiliation":[{"name":"Department of Neurology Hospital das Cl\u00ednicas da Faculdade de Medicina da Universidade de S\u00e3o Paulo S\u00e3o Paulo S\u00e3o Paulo Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fernando","family":"Kok","sequence":"additional","affiliation":[{"name":"Department of Neurology Hospital das Cl\u00ednicas da Faculdade de Medicina da Universidade de S\u00e3o Paulo S\u00e3o Paulo S\u00e3o Paulo Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9378-2539","authenticated-orcid":false,"given":"Fernando","family":"Freua","sequence":"additional","affiliation":[{"name":"Department of Neurology Hospital das Cl\u00ednicas da Faculdade de Medicina da Universidade de S\u00e3o Paulo S\u00e3o Paulo S\u00e3o Paulo Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,4,28]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2019-106740"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/s10038-020-0739-5"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2014.03.009"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.38352"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1001\/jama.2014.14604"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1177\/0883073816672998"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.3390\/cells8070669"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddy096"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.pediatrneurol.2018.04.012"},{"key":"e_1_2_10_11_1","first-page":"187","article-title":"Genetic Analysis of a Family With Epilepsy Accompanied by Developmental Delay and Brain Deformity due to a de Novo Variant of TUBB2A Gene","volume":"41","author":"Zhao J.","year":"2024","journal-title":"Zhonghua Yi Xue Yi Chuan Xue Za Zhi"}],"container-title":["American Journal of Medical Genetics Part 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