De Novo TUBB2A Variant Presenting With Anterior Temporal Pachygyria

J Child Neurol. 2017 Jan;32(1):127-131. doi: 10.1177/0883073816672998. Epub 2016 Oct 23.


TUBB2A is a gene that has recently been reported in association with structural brain abnormalities. Only 3 cases have been reported to date with disparate brain morphologic abnormalities, although all patients have presented with developmental delay and infantile-onset epilepsy. We report a fourth patient with a de novo variant in TUBB2A that is predicted to be pathogenic, presenting with developmental delay, spastic diplegia, exaggerated startle, and anterior temporal pachygyria in the absence of epilepsy. This report serves to further delineate the phenotype of the TUBB2A-related disorders. Focal anterior temporal pachygyria may facilitate recognition of additional cases of this tubulinopathy.

Keywords: TUBB2A-related disorders; corpus callosum; pachygyria; structural brain abnormalities; tubulinopathy.

Publication types

  • Case Reports

MeSH terms

  • Brain / diagnostic imaging
  • Child, Preschool
  • Genetic Predisposition to Disease
  • Genetic Variation*
  • Humans
  • Lissencephaly / diagnostic imaging
  • Lissencephaly / genetics*
  • Male
  • Phenotype
  • Tubulin / genetics*


  • TUBB2A protein, human
  • Tubulin