Tubulin beta-6 (TUBB6)

TUBB6 is a beta-tubulin gene. So far, TUBB6 has not been associated with disorders affecting brain structure.
A TUBB6 p.F394S variant however was identified in multiple members of a family, presenting with a features characteristic of a congenital cranial dysinnervation disorder (Fazeli et al., 2017).

These features included non-progressive bilateral facial palsy and speech disorder (velopharyngeal dysfunction) in addition to a loss of facial expression (hymomimia), excessive nasal speech (rhinophonia), impaired gag reflex and drooping of both eyes (bilateral ptosis).

It has been hypothesised that the effects of this variant on microtubule function impairs the development of certain cranial nerves important for facial control.