{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,20]],"date-time":"2026-10-20T19:56:58Z","timestamp":1792526218177,"version":"4.5.0"},"reference-count":15,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2012,5,16]],"date-time":"2012-05-16T00:00:00Z","timestamp":1337126400000},"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":[[2012,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Neurological disorders characterized by abnormal neuronal migration, organization, axon guidance, and maintenance have recently been associated with missense and splice\u2010site mutations in the genes encoding \u03b1\u2010 and \u03b2\u2010tubulin isotypes TUBA1A, TUBB2B, TUBB3, and TUBA8. We found a novel heterozygous mutation c.419G\u2003&gt;\u2003C in exon 4 of the gene encoding TUBB2B in a female with microcephaly, agenesis of the corpus callosum, open\u2010lip schizencephaly of the left parietal lobe, extensive polymicrogyria, basal ganglia and thalami dysmorphisms, and vermis and right third nerve hypoplasia. The missense change results in a glycine to alanine substitution; the mutated residue falls within an invariant glycine\u2010rich region and therefore is likely to result in impaired protein function and possibly microtubule formation. This study expands the spectrum of brain malformations associated with mutations in the \u03b2\u2010tubulin gene <jats:italic>TUBB2B<\/jats:italic>, supporting its critical role in migration\/organization and axon guidance processes. In addition, it suggests a possible genetic aetiology of schizencephaly, thus strengthening the hypothesis that there is a common pathophysiological base in polymicrogyria and schizencephaly.<\/jats:p>","DOI":"10.1111\/j.1469-8749.2012.04316.x","type":"journal-article","created":{"date-parts":[[2012,5,16]],"date-time":"2012-05-16T15:19:15Z","timestamp":1337181555000},"page":"765-769","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":59,"title":["A novel mutation in the \u03b2\u2010tubulin gene <i>TUBB2B<\/i> associated with complex malformation of cortical development and deficits in axonal guidance"],"prefix":"10.1111","volume":"54","author":[{"given":"ROMINA","family":"ROMANIELLO","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"ALESSANDRA","family":"TONELLI","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"FILIPPO","family":"ARRIGONI","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"CINZIA","family":"BASCHIROTTO","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"FABIO","family":"TRIULZI","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"NEREO","family":"BRESOLIN","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"MARIA TERESA","family":"BASSI","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"RENATO","family":"BORGATTI","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2012,5,16]]},"reference":[{"key":"e_1_2_8_2_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.gde.2011.01.003"},{"key":"e_1_2_8_3_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2009.01301.x"},{"key":"e_1_2_8_4_2","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20572"},{"key":"e_1_2_8_5_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddq182"},{"key":"e_1_2_8_6_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0b013e31821043f5"},{"key":"e_1_2_8_7_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng.380"},{"key":"e_1_2_8_8_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2009.12.011"},{"key":"e_1_2_8_9_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddq377"},{"key":"e_1_2_8_10_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2009.10.007"},{"key":"e_1_2_8_11_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.tig.2009.10.003"},{"key":"e_1_2_8_12_2","doi-asserted-by":"crossref","first-page":"15472","DOI":"10.1016\/S0021-9258(18)47750-2","article-title":"Tubulin sequence region beta 155\u2013174 is involved in binding exchangeable guanosine triphosphate","volume":"262","author":"Hesse J","year":"1987","journal-title":"J Biol Chem"},{"key":"e_1_2_8_13_2","doi-asserted-by":"publisher","DOI":"10.1006\/jmbi.2001.5077"},{"key":"e_1_2_8_14_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2006.12.017"},{"key":"e_1_2_8_15_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32264"},{"key":"e_1_2_8_16_2","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000183747.05269.2d"}],"container-title":["Developmental Medicine &amp; Child Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fj.1469-8749.2012.04316.x","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/j.1469-8749.2012.04316.x","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,31]],"date-time":"2023-10-31T21:16:10Z","timestamp":1698786970000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/j.1469-8749.2012.04316.x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,5,16]]},"references-count":15,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2012,8]]}},"alternative-id":["10.1111\/j.1469-8749.2012.04316.x"],"URL":"https:\/\/doi.org\/10.1111\/j.1469-8749.2012.04316.x","archive":["Portico"],"relation":{},"ISSN":["0012-1622","1469-8749"],"issn-type":[{"value":"0012-1622","type":"print"},{"value":"1469-8749","type":"electronic"}],"subject":[],"published":{"date-parts":[[2012,5,16]]},"assertion":[{"value":"2012-05-16","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}