Amrita K Singh, Garrett Allington, Stephen Viviano, Stephen McGee, Emre Kiziltug, Shaojie Ma, Shujuan Zhao, Kedous Y Mekbib, John P Shohfi, Phan Q Duy, Tyrone DeSpenza, Charuta G Furey, Benjamin C Reeves, Hannah Smith, André M M Sousa, Adriana Cherskov, August Allocco, Carol Nelson-Williams, Shozeb Haider, Syed R A Rizvi, Seth L Alper, Nenad Sestan, Hermela Shimelis, Lauren K Walsh, Richard P Lifton, Andres Moreno-De-Luca, Sheng Chih Jin, Paul Kruszka, Engin Deniz, Kristopher T Kahle
Hydrocephalus, characterized by cerebral ventriculomegaly, is the most common disorder requiring brain surgery in children. Recent studies have implicated SMARCC1, a component of the BRG1-associated factor (BAF) chromatin remodeling complex, as a candidate congenital hydrocephalus (CH) gene. However, SMARCC1 variants have not been systematically examined in a large patient cohort or conclusively linked with a human syndrome. Moreover, CH-associated SMARCC1 variants have not been functionally validated or mechanistically studied in vivo...
December 21, 2023: Brain