Pathogenic variants in autism gene KATNAL2 cause hydrocephalus and disrupt neuronal connectivity by impairing ciliary microtubule dynamics

Tyrone DeSpenza, Yale University
Shujuan Zhao, Washington University School of Medicine in St. Louis
Sheng Chih Jin, Washington University School of Medicine in St. Louis
et al.

Abstract

Enlargement of the cerebrospinal fluid (CSF)-filled brain ventricles (cerebral ventriculomegaly), the cardinal feature of congenital hydrocephalus (CH), is increasingly recognized among patients with autism spectrum disorders (ASD).