TUBB2A encodes for a microtubule protein which is involved in proliferation and migration of neuronal progenitor cells, as well as organization of neuronal circuits and axon guidance. Heterozygous pathogenic variants in the TUBB2A gene are associated with a heterogeneous spectrum of disease. Affected individuals present with developmental delay/intellectual disability of variable severity and epilepsy. The cerebral cortex can be normal on neuroimaging, but malformations of cortical development, referred to as tubulinopathy-related dysgyria, are common. Associated malformations of the corpus callosum, basal ganglia and cerebellum are variably present.
To date, less than 30 individuals with variants in TUBB2A have been reported in the literature. The prevalence of TUBB2A mutations is unknown, but it is estimated that tubulinopathy-related dysgyria (caused by variants in either TUBA1A, TUBB2A, TUBB2B, TUBB3, TUBB, TUBG1, TUBA8) occurs in
All variants reported to date occurred de novo. No clear genotype/phenotype correlations could yet be established.