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Condition report · Neurological

Tubulinopathies

A group of conditions in which the brain develops differently, causing developmental delay, intellectual disability and seizures of varying severity. They are caused by changes in tubulin genes, including TUBA1A, TUBB2A and TUBB3, which build the cell's internal scaffolding.

A condition report looks for rare variants known to cause the conditions it covers.

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The 2 conditions we analyse

Tubulinopathy (TUBA1A, TUBB2A)

Autosomal dominant

Caused by a change in one copy of a tubulin gene such as TUBA1A or TUBB2A, which encode building blocks of microtubules needed for nerve cell migration. Changes usually arise de novo and alter the protein rather than removing it.

Signs and symptoms

Developmental delay, intellectual disability and seizures, with brain malformations on imaging such as lissencephaly (smooth brain), polymicrogyria, underdeveloped corpus callosum and abnormally shaped basal ganglia. Small head size and movement problems are common. Severity ranges from mild to profound.

What a diagnosis changes

Seizure treatment, physiotherapy, feeding and developmental support guided by a neurologist. Most cases arise de novo, so genetic counselling and parental testing guide recurrence risk.

Genes analysed

Specific forms also covered

  • TUBB3-Related Tubulinopathy

    Autosomal dominant

    Caused by a change in one copy of TUBB3, a beta-tubulin found mainly in nerve cells; the closely related gene TUBB is also included here. Changes may arise de novo.

    TUBB, TUBB3

Includes 8 related subtypes ↓
  • complex cortical dysplasia with other brain malformations 5
  • complex cortical dysplasia with other brain malformations 6
  • fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement
  • skin creases, congenital symmetric circumferential, 1
  • TUBB-related tubulinopathy
  • TUBB3-related tubulinopathy
  • tubulinopathy-associated dysgyria
  • Uner Tan Syndrome
MONDO:0100153Sources: [1][3][4]

References

  1. Hebebrand M, Hüffmeier U, Trollmann R, Hehr U, Uebe S, Ekici AB et al., 2019. The mutational and phenotypic spectrum of TUBA1A-associated tubulinopathy. Orphanet journal of rare diseases
  2. Romaniello R, Zucca C, Arrigoni F, Bonanni P, Panzeri E, Bassi MT et al., 2019. Epilepsy in Tubulinopathy: Personal Series and Literature Review. Cells
  3. TUBA1A gene. MedlinePlus Genetics
  4. Ikegawa T, Osada K, Ikeda A, Tsuyusaki Y, Tsuji M, Iai M et al., 2025. Clinical characteristics and radiological features of tubulinopathy: A single-center retrospective study in Japan. Brain & development
  5. TUBB3 gene. MedlinePlus Genetics
  6. Congenital fibrosis of the extraocular muscles. MedlinePlus Genetics
  7. Mollica A, Omer S, Forguson G, Steiman S, Evagelou SL, Naumenko S et al., 2025. Mutations in the β-tubulin TUBB impair ciliogenesis and are associated with ciliopathy-like phenotypes. Nature communications

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