Mutations in the beta-tubulin gene TUBB2B result in asymmetrical polymicrogyria.

Journal article

Polymicrogyria is a relatively common but poorly understood defect of cortical development characterized by numerous small gyri and a thick disorganized cortical plate lacking normal lamination. Here we report de novo mutations in a beta-tubulin gene, TUBB2B, in four individuals and a 27-gestational-week fetus with bilateral asymmetrical polymicrogyria. Neuropathological examination of the fetus revealed an absence of cortical lamination associated with the presence of ectopic neuronal cells ...

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Authors: Jaglin, X; Poirier, K; Saillour, Y; Buhler, E; Tian, G

• Publication status: Published
• Journal: Nature genetics
• Volume: 41
• Issue: 6
• Pages: 746-752
• Publication date: 2009-06-01
• DOI: 10.1038/ng.380
• EISSN: 1546-1718
• ISSN: 1061-4036
• Language: English
• Keywords: Genetic Variation; Adult; Pia Mater; Fetal Diseases; Amino Acid Substitution; Child, Preschool; Lissencephaly; Humans; Female; Adolescent; Cerebral Cortex; Tubulin; Mutation; Malformations of Cortical Development; Pregnancy