Mutations in the β-tubulin TUBB impair ciliogenesis and are associated with ciliopathy-like phenotypes.

ABSTRACT: Tubulinopathies and neurodevelopmental ciliopathies are two groups of genetic disorders that cause structural brain malformations. Tubulinopathies result from mutations in tubulins, the building blocks of microtubules, most of which are dominant. Neurodevelopmental ciliopathies are mostly recessive disorders caused by defects in the primary cilium, an organelle that regulates key signaling pathways during brain development. Although more than 40 genes have been associated with neurodevelopmental ciliopathies, many patients still lack a known genetic cause. Here, we present a de novo heterozygous missense variant (p.G308S) in Tubulin Beta Class I (TUBB) identified in a patient showing features of both ciliopathy and tubulinopathy. While microtubules are essential for primary cilia formation

SUBMITTER: Mollica A 

PROVIDER: S-EPMC12660950 | biostudies-literature | 2025 Nov

REPOSITORIES: biostudies-literature