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To overcome these challenges, we performed whole-exome sequencing in this study.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Case presentation<\/jats:title>\n            <jats:p>A Japanese patient presented with microcephaly and severe developmental delay. Brain magnetic resonance imaging showed the presence of colpocephaly associated with lateral ventricle dilatation and the presence of a simplified gyral pattern. Hypoplasia of the corpus callosum and cerebellar vermis were also noted. Because Sanger sequencing is expensive, laborious, and time-consuming, whole-exome sequencing was performed and a <jats:italic>de novo<\/jats:italic> missense mutation in <jats:italic>TUBA1A<\/jats:italic> (E27Q) was identified.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Conclusion<\/jats:title>\n            <jats:p>The novel mutation identified in this study was located in the genetic region that encodes the N-terminal domain of TUBA1A, a region of <jats:italic>TUBA1A<\/jats:italic> with few reported mutations. Retrospective assessment of the clinical and radiological features of this patient\u2015i.e., microcephaly, lissencephaly (pachygyria) with cerebellar hypoplasia, and corpus callosum hypoplasia\u2015indicated that the <jats:italic>TUBA1A<\/jats:italic> mutation did not lead to any contradictions. Because rapid and comprehensive mutation analysis by whole-exome sequencing is time- and cost-effective, it might be useful for genetic counseling of patients with sporadic malformations of cortical development.<\/jats:p>\n          <\/jats:sec>","DOI":"10.1186\/1756-0500-7-465","type":"journal-article","created":{"date-parts":[[2014,7,22]],"date-time":"2014-07-22T19:01:12Z","timestamp":1406055672000},"update-policy":"http:\/\/dx.doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":19,"title":["Whole-exome sequencing identifies a de novo TUBA1A mutation in a patient with sporadic malformations of cortical development: a case report"],"prefix":"10.1186","volume":"7","author":[{"given":"Keiko","family":"Shimojima","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aya","family":"Narita","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yoshihiro","family":"Maegaki","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Akira","family":"Saito","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Toru","family":"Furukawa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Toshiyuki","family":"Yamamoto","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2014,7,22]]},"reference":[{"issue":"2","key":"2999_CR1","doi-asserted-by":"publisher","first-page":"171","DOI":"10.1007\/s11910-010-0176-5","volume":"11","author":"JS Liu","year":"2011","unstructured":"Liu JS: Molecular genetics of neuronal migration disorders. 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