PTEN mutations impair CSF dynamics and cortical networks by dysregulating periventricular neural progenitors.
Publication/Presentation Date
3-1-2025
Abstract
Enlargement of the cerebrospinal fluid (CSF)-filled brain ventricles (ventriculomegaly) is a defining feature of congenital hydrocephalus (CH) and an under-recognized concomitant of autism. Here, we show that de novo mutations in the autism risk gene PTEN are among the most frequent monogenic causes of CH and primary ventriculomegaly. Mouse Pten-mutant ventriculomegaly results from aqueductal stenosis due to hyperproliferation of periventricular Nkx2.1
Volume
28
Issue
3
First Page
536
Last Page
557
ISSN
1546-1726
Published In/Presented At
DeSpenza, T., Jr, Kiziltug, E., Allington, G., Barson, D. G., McGee, S., O'Connor, D., Robert, S. M., Mekbib, K. Y., Nanda, P., Greenberg, A. B. W., Singh, A., Duy, P. Q., Mandino, F., Zhao, S., Lynn, A., Reeves, B. C., Marlier, A., Getz, S. A., Nelson-Williams, C., Shimelis, H., … Kahle, K. T. (2025). PTEN mutations impair CSF dynamics and cortical networks by dysregulating periventricular neural progenitors. Nature neuroscience, 28(3), 536–557. https://doi.org/10.1038/s41593-024-01865-3
Disciplines
Business Administration, Management, and Operations | Health and Medical Administration | Management Sciences and Quantitative Methods
PubMedID
39994410
Department(s)
Administration and Leadership
Document Type
Article