Whole-exome sequencing identifies a de novo TUBA1A mutation in a patient with sporadic malformations of cortical development: A case report

Keiko Shimojima, Aya Narita, Yoshihiro Maegaki, Akira Saito, Toru Furukawa, Toshiyuki Yamamoto

研究成果: Article査読

13 被引用数 (Scopus)

抄録

Background: Owing to the number of genetic mutations that contribute to malformations of cortical development, identification of causative mutations in candidate genes is challenging. To overcome these challenges, we performed whole-exome sequencing in this study. Case presentation. 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 de novo missense mutation in TUBA1A (E27Q) was identified. Conclusion: The novel mutation identified in this study was located in the genetic region that encodes the N-terminal domain of TUBA1A, a region of TUBA1A with few reported mutations. Retrospective assessment of the clinical and radiological features of this patient i.e., microcephaly, lissencephaly (pachygyria) with cerebellar hypoplasia, and corpus callosum hypoplasia indicated that the TUBA1A 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.

本文言語English
論文番号465
ジャーナルBMC Research Notes
7
1
DOI
出版ステータスPublished - 2014 7 22
外部発表はい

ASJC Scopus subject areas

  • Biochemistry, Genetics and Molecular Biology(all)

フィンガープリント 「Whole-exome sequencing identifies a de novo TUBA1A mutation in a patient with sporadic malformations of cortical development: A case report」の研究トピックを掘り下げます。これらがまとまってユニークなフィンガープリントを構成します。

引用スタイル