Article
De novo variants in RYBP are associated with a severe neurodevelopmental disorder and congenital anomalies.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Apr 2025
Weisz-Hubshman Monika, Burrage Lindsay C, Jangam Sharayu V, Rosenfeld Jill A, von Hardenberg Sandra, Bergmann Anke, Richter Manuela Friederike, Rydzanicz Malgorzata, Ploski Rafal, Stembalska Agnieszka, Chung Wendy K, Hernan Rebecca R, Lim Foong Y, Brunet Theresa, Syrbe Steffen, Keren Boris, Heide Solveig, Murdock David R, Dai Hongzheng, Xia Fan, Ketkar Shamika, Dawson Brian, Narayanan Vinodh, Graves Hillary K, Wangler Michael F, Bacino Carlos, Lee Brendan
Abstract excerpt
PURPOSE: Polycomb group proteins are key epigenetic transcriptional regulators. Multiple neurodevelopmental disorders are associated with pathogenic variants of the genes encoding Polycomb group proteins. RYBP is a core component of the noncanonical Polycomb Repressor Complex 1; however, its role in disease is unclear. METHODS: Functional consequences of RYBP variants were assessed using in vitro cellular and...
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