Mutation of key signaling regulators of cerebrovascular development in vein of Galen malformations.
Publication/Presentation Date
11-17-2023
Abstract
To elucidate the pathogenesis of vein of Galen malformations (VOGMs), the most common and most severe of congenital brain arteriovenous malformations, we performed an integrated analysis of 310 VOGM proband-family exomes and 336,326 human cerebrovasculature single-cell transcriptomes. We found the Ras suppressor p120 RasGAP (RASA1) harbored a genome-wide significant burden of loss-of-function de novo variants (2042.5-fold, p = 4.79 x 10
Volume
14
Issue
1
First Page
7452
Last Page
7452
ISSN
2041-1723
Published In/Presented At
Zhao, S., Mekbib, K. Y., van der Ent, M. A., Allington, G., Prendergast, A., Chau, J. E., Smith, H., Shohfi, J., Ocken, J., Duran, D., Furey, C. G., Hao, L. T., Duy, P. Q., Reeves, B. C., Zhang, J., Nelson-Williams, C., Chen, D., Li, B., Nottoli, T., Bai, S., … Kahle, K. T. (2023). Mutation of key signaling regulators of cerebrovascular development in vein of Galen malformations. Nature communications, 14(1), 7452. https://doi.org/10.1038/s41467-023-43062-z
Disciplines
Medicine and Health Sciences
PubMedID
37978175
Department(s)
Fellows and Residents
Document Type
Article