Individuals with pathogenic variants in the TUBB2A gene present with variable clinical symptoms and severity. These symptoms compromise mild to severe delay of developmental milestones and intellectual disability, and epilepsy. The cerebral cortex can be normal on neuroimaging, but malformations of the grey matter, referred to as tubulinopathy-related dysgyria, are common. Associated malformations of other brain structures are variably present.
To date, less than 30 individuals with variants in TUBB2A have been reported in the literature. The frequency of TUBB2A mutations in the general population is unknown, but it is estimated that tubulinopathy-related dysgyria (caused by variants in either TUBA1A, TUBB2A, TUBB2B, TUBB3, TUBB, TUBG1, or TUBA8) occurs in
All variants reported to date occurred de novo, meaning that they were not inherited by the parents but are caused by changes that during early prenatal development.
TUBB2A