Tubulin beta-4B (TUBB4B)

TUBB4B encodes for a beta-tubulin protein. To date, very few variants in this tubulin have been described.

Initially, a single TUBB4B p.T186I variant was highlighted as one of many protein-coding genetic changes in a cohort of individuals with autism spectrum disorder (Iossifov et al., 2014).

Subsequently, two inherited variants, p.R391C & p.R391H, affecting the same amino acid were identified in multiple families, with family members carrying these variants suffering from Leber congenital amaurosis (LCA) (Luscan et al., 2017).

LCA is a neurodegenerative disease affecting photoreceptor cells within the eye, often causing loss of sight within the first year of life. Unlike other genetic forms of LCA, TUBB4B-related disease is also associated with early-onset deafness.