Congenital facial palsy with ptosis and velopharyngeal dysfunction

Definition:

Congenital facial palsy with ptosis and velopharyngeal dysfunction (FPVEPD) is an autosomal dominant disorder caused by mutations in TUBB6, a gene encoding a class V tubulin. Tubulins form microtubules, which are essential for the cytoskeleton and thereby for cell division, differentiation and migration as well as intracellular trafficking.

References:

[1]. Walid Fazeli, et al. A TUBB6 mutation is associated with autosomal dominant non-progressive congenital facial palsy, bilateral ptosis and velopharyngeal dysfunction. Hum Mol Genet. 2017 Oct 15;26(20):4055-4066. [Content Brief]

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