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Bridging the gap: an emerging link between tubulinopathies and ciliopathies
Sydney Steiman1,2, Safia Omer1,3, Stephen Pastore1
1Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON, Canada.
Abstract:
Genetic neurodevelopmental disorders arise from variants in genes critical for brain development, including those causing ciliopathies and tubulinopathies. Both disorders are linked to brain malformations, intellectual disability, and motor impairments. Since cilia rely on microtubules for ciliogenesis, axoneme formation, and intraflagellar transport, defects in tubulin genes can directly disrupt ciliary function. This review highlights emerging evidence connecting these two disease groups and reveals how tubulin variants impact ciliopathy mechanisms.
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