Tubulinopathies: genetics

Evidence-based neurology checklist on tubulinopathies: genetics: Genetic mutations TUBA1A TUBB2A TUBB2B TUBB3 TUBB4A TUBB5 TUBG1 Genetic functions

Genetic mutations

  • TUBA1A
  • TUBB2A
  • TUBB2B
  • TUBB3
  • TUBB4A
  • TUBB5
  • TUBG1

Genetic functions

References

  1. Bahi-Buisson N, Poirier K, Fourniol F, et al. The wide spectrum of tubulinopathies: what are the key features for the diagnosis? Brain 2014; 137:1676-1700.
  2. Romaniello R, Arrigoni F, Fry AE, et al. Tubulin genes and malformations of cortical development. Eur J Med Genet 2018; pii: S1769-7212(17)30725-5 (Epub ahead of print).
  3. Sohal AP, Montgomery T, Mitra D, Ramesh V. TUBA1A mutation-associated lissencephaly: case report and review of the literature. Pediatr Neurol 2012; 46:127-131.
  4. Amrom D, Tanyalçin I, Verhelst H, et al. Polymicrogyria with dysmorphic basal ganglia? Think tubulin! Clin Genet 2014; 85:178-183.
  5. Brock S, Stouffs K, Scalais E, et al. Tubulinopathies continued: refining the phenotypic spectrum associated with variants in TUBG1. Eur J Hum Genet 2018; 26:1132-1142.

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