New insights on the genetic role of hydrocephalus and ciliopathy: A population-based cohort study

The link between hydrocephalus and dysfunctional cilia in brain ventricles and subarachnoid space was previously described. This study explored the genotype-phenotype link between hydrocephalus, ciliary movement, and autism in 72 patients (with hydrocephalus) and 4,181 controls.
Of 121 hydrocephalus genes screened, researchers identified 52 hydrocephalus-associated variants in 34 genes among 58.3% of patients. Although insignificant (P=0.096), increased high-impact protein altering variants were noted in cases. Of the 34 genes, 14 were part of the ciliome and 6 affected cilia-dependent processes. Furthermore, 15 high-impact variants and 3 protein truncating variants were linked to autism spectrum disorder.
Evidence from this study links hydrocephalus as a ciliary disease. Additional studies in brain ciliopathies may be useful for indicating other brain diseases.