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Natl. Acad. Sci. U.S.A."],"published-print":{"date-parts":[[2024,7,2]]},"abstract":"<jats:p>\n                    Enlargement of the cerebrospinal fluid (CSF)\u2013filled brain ventricles (cerebral ventriculomegaly), the cardinal feature of congenital hydrocephalus (CH), is increasingly recognized among patients with autism spectrum disorders (ASD).\n                    <jats:italic>KATNAL2,<\/jats:italic>\n                    a member of Katanin family microtubule-severing ATPases, is a known ASD risk gene, but its roles in human brain development remain unclear. Here, we show that nonsense truncation of\n                    <jats:italic>Katnal2<\/jats:italic>\n                    (\n                    <jats:italic>Katnal2\u0394<\/jats:italic>\n                    <jats:italic>17<\/jats:italic>\n                    ) in mice results in classic ciliopathy phenotypes, including impaired spermatogenesis and cerebral ventriculomegaly. In both humans and mice,\n                    <jats:italic>KATNAL2<\/jats:italic>\n                    is highly expressed in ciliated radial glia of the fetal ventricular\u2013subventricular zone as well as in their postnatal ependymal and neuronal progeny. The ventriculomegaly observed in\n                    <jats:italic>Katnal2<\/jats:italic>\n                    <jats:italic>\u039417<\/jats:italic>\n                    mice is associated with disrupted primary cilia and ependymal planar cell polarity that results in impaired cilia-generated CSF flow. Further, prefrontal pyramidal neurons in ventriculomegalic\n                    <jats:italic>Katnal2<\/jats:italic>\n                    \u0394\n                    <jats:italic>17<\/jats:italic>\n                    mice exhibit decreased excitatory drive and reduced high-frequency firing. Consistent with these findings in mice, we identified rare, damaging heterozygous germline variants in\n                    <jats:italic>KATNAL2<\/jats:italic>\n                    in five unrelated patients with neurosurgically treated CH and comorbid ASD or other neurodevelopmental disorders. Mice engineered with the orthologous ASD-associated KATNAL2 F244L missense variant recapitulated the ventriculomegaly found in human patients. Together, these data suggest\n                    <jats:italic>KATNAL2<\/jats:italic>\n                    pathogenic variants alter intraventricular CSF homeostasis and parenchymal neuronal connectivity by disrupting microtubule dynamics in fetal radial glia and their postnatal ependymal and neuronal descendants. The results identify a molecular mechanism underlying the development of ventriculomegaly in a genetic subset of patients with ASD and may explain persistence of neurodevelopmental phenotypes in some patients with CH despite neurosurgical CSF shunting.\n                  <\/jats:p>","DOI":"10.1073\/pnas.2314702121","type":"journal-article","created":{"date-parts":[[2024,6,25]],"date-time":"2024-06-25T12:43:44Z","timestamp":1719319424000},"update-policy":"https:\/\/doi.org\/10.1073\/pnas.cm10313","source":"Crossref","is-referenced-by-count":15,"title":["Pathogenic variants in autism gene\n                    <i>KATNAL2<\/i>\n                    cause hydrocephalus and disrupt neuronal connectivity by impairing ciliary microtubule dynamics"],"prefix":"10.1073","volume":"121","author":[{"suffix":"Jr.","given":"Tyrone","family":"DeSpenza","sequence":"first","affiliation":[{"name":"Interdepartmental Neuroscience Program, Yale School of Medicine, Yale University, New Haven, CT 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