Tubulinopathy is a genetic condition that impacts how a child develops prenatally and throughout the lifespan. Tubulinopathy is caused by a small change to DNA, called a variant, that occurs in one of several TUB genes. Although these changes are small, they can have major effects on how the brain is formed, and ultimately lead to a spectrum of conditions that can include:

• global developmental delay

• intellectual disability

• communication challenges

• motor delays

• seizure disorder

• vision impairment

More and more individuals are receiving Tubulinopathy diagnoses due to the advances in genetic testing. Accordingly, the number of variants and affected TUB genes is growing, and so is the spectrum of Tubulinopathy conditions.

Humans contain 18 different tubulin genes spread across the genome.

Below is a map of the chromosomal locations of all α- and β-tubulin genes, with those known to cause tubulinopathies highlighted.