{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,15]],"date-time":"2026-09-15T22:56:32Z","timestamp":1789512992401,"version":"build-2803163510"},"reference-count":30,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2014,1,7]],"date-time":"2014-01-07T00:00:00Z","timestamp":1389052800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Develop Med Child Neuro"],"published-print":{"date-parts":[[2014,4]]},"abstract":"\n Aim<\/jats:title>\n \n The aim of this study was to determine the frequency of mutations in tubulin genes (\n \n TUBB<\/jats:styled-content>\n 2B,\n TUBA<\/jats:styled-content>\n 1A, and\n TUBB<\/jats:styled-content>\n 3\n <\/jats:italic>\n ) in patients with malformations of cortical development (\n MCD<\/jats:styled-content>\n s) of unknown origin.\n <\/jats:p>\n <\/jats:sec>\n \n Method<\/jats:title>\n \n In total, 79 out of 156 patients (41 males, 38 females; age range 8mo\u201355y (mean age 13y 3mo,\n SD<\/jats:styled-content>\n 11y 2mo) with a neuroradiological diagnosis of\n MCD<\/jats:styled-content>\n s were enrolled in the study. The 77 excluded patients were excluded for the following reasons: suspected or proven diagnosis of pre\u2010 or perinatal ischaemic insult (\n n<\/jats:italic>\n =13); syndromic disease (\n n<\/jats:italic>\n =10); congenital infection (\n n<\/jats:italic>\n =14); pregnancy complicated by twin\u2010to\u2010twin transfusion syndrome (\n n<\/jats:italic>\n =2); proven mutations in known genes (\n n<\/jats:italic>\n =13); poor magnetic resonance imaging (\n MRI<\/jats:styled-content>\n ) quality, or lack of informed consent (\n n<\/jats:italic>\n =25). A genetic analysis of the\n \n TUBA<\/jats:styled-content>\n 1A\n <\/jats:italic>\n ,\n \n TUBB<\/jats:styled-content>\n 2B\n <\/jats:italic>\n and\n \n TUBB<\/jats:styled-content>\n 3\n <\/jats:italic>\n genes was carried out by direct sequencing of the coding regions of the relevant genes for each participant. Previously described patients with mutations in the\n \n TUBB<\/jats:styled-content>\n 2B\n <\/jats:italic>\n and\n \n TUBA<\/jats:styled-content>\n 1A\n <\/jats:italic>\n genes were reviewed; clinical and neuroradiological findings were compared and discussed.\n <\/jats:p>\n <\/jats:sec>\n \n Results<\/jats:title>\n \n Two novel heterozygous mutations were detected: a heterozygous mutation in exon 4 of the\n \n TUBA<\/jats:styled-content>\n 1A\n <\/jats:italic>\n gene (c.1160C>T) in a 5\u2010year\u2010old female with microcephaly, severe intellectual disability, and absence of language, and a c.1080 _1084del\n CCTGA<\/jats:styled-content>\n ins\n ACATCTTC<\/jats:styled-content>\n in exon 4 of the\n \n TUBB<\/jats:styled-content>\n 2B\n <\/jats:italic>\n gene in a 31\u2010year\u2010old female with microcephaly, spastic tetraparesis, severe intellectual disability, and scoliosis. Different types of cortical abnormalities, cerebellar vermis hypoplasia, and optic nerve hypoplasia\/atrophy were detected on\n MRI<\/jats:styled-content>\n . Dysmorphisms of the basal ganglia and the hippocampi with abnormalities of the midline commissural structures were present in both cases.\n <\/jats:p>\n <\/jats:sec>\n \n Interpretation<\/jats:title>\n The consistent presence of hypoplastic and disorganized white matter tracts suggests that, in addition to defects in neuronal migration, disruption of axon growth and guidance is a peculiar feature of tubulin\u2010related disorders.<\/jats:p>\n <\/jats:sec>","DOI":"10.1111\/dmcn.12370","type":"journal-article","created":{"date-parts":[[2014,1,7]],"date-time":"2014-01-07T02:16:54Z","timestamp":1389061014000},"page":"354-360","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":43,"title":["Brain malformations and mutations in\n \u03b1<\/i>\n \u2010 and\n \u03b2<\/i>\n \u2010tubulin genes: a review of the literature and description of two new cases"],"prefix":"10.1111","volume":"56","author":[{"given":"Romina","family":"Romaniello","sequence":"first","affiliation":[{"name":"Neuropsychiatry and Neurorehabilitation Unit Scientific Institute IRCCS Eugenio Medea Bosisio Parini Lecco Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Filippo","family":"Arrigoni","sequence":"additional","affiliation":[{"name":"Neuroimaging Unit Neuropsychiatry and Neurorehabilitation Unit Scientific Institute IRCCS Eugenio Medea Bosisio Parini Lecco Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Cavallini","sequence":"additional","affiliation":[{"name":"Neuropsychiatry and Neurorehabilitation Unit Scientific Institute IRCCS Eugenio Medea Bosisio Parini Lecco Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Erika","family":"Tenderini","sequence":"additional","affiliation":[{"name":"Laboratory of Molecular Biology Scientific Institute IRCCS Eugenio Medea Bosisio Parini Lecco Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cinzia","family":"Baschirotto","sequence":"additional","affiliation":[{"name":"Laboratory of Molecular Biology Scientific Institute IRCCS Eugenio Medea Bosisio Parini Lecco Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fabio","family":"Triulzi","sequence":"additional","affiliation":[{"name":"Neuroimaging Unit Neuropsychiatry and Neurorehabilitation Unit Scientific Institute IRCCS Eugenio Medea Bosisio Parini Lecco Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria\u2010Teresa","family":"Bassi","sequence":"additional","affiliation":[{"name":"Laboratory of Molecular Biology Scientific Institute IRCCS Eugenio Medea Bosisio Parini Lecco Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Renato","family":"Borgatti","sequence":"additional","affiliation":[{"name":"Neuropsychiatry and Neurorehabilitation Unit Scientific Institute IRCCS 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