Preparing your results

Our searching services are busy right now. Your search will reload in five seconds.

X
Forgot Password

If you have forgotten your password you can enter your email here and get a temporary password sent to your email.

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

Nature genetics | Jun 1, 2009

http://www.ncbi.nlm.nih.gov/pubmed/19465910

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 in the white matter and in the leptomeningeal spaces due to breaches in the pial basement membrane. In utero RNAi-based inactivation demonstrates that TUBB2B is required for neuronal migration. We also show that two disease-associated mutations lead to impaired formation of tubulin heterodimers. These observations, together with previous data, show that disruption of microtubule-based processes underlies a large spectrum of neuronal migration disorders that includes not only lissencephaly and pachygyria, but also polymicrogyria malformations.

Pubmed ID: 19465910 RIS Download

Mesh terms: Adolescent | Adult | Amino Acid Substitution | Cerebral Cortex | Child, Preschool | Female | Fetal Diseases | Genetic Variation | Humans | Lissencephaly | Malformations of Cortical Development | Mutation | Pia Mater | Pregnancy | Tubulin

Research resources used in this publication

None found

Research tools detected in this publication

None found

Data used in this publication

None found

Associated grants

  • Agency: Wellcome Trust, Id: 079912
  • Agency: Wellcome Trust, Id: 084655

Comparative Toxicogenomics Database (Data, Disease Annotation)

Publication data is provided by the National Library of Medicine ® and PubMed ®. Data is retrieved from PubMed ® on a weekly schedule. For terms and conditions see the National Library of Medicine Terms and Conditions.