CIZ1-LOSS CAUSES FEMALE-SPECIFIC AUTOSOMAL NEURODEVELOPMENTAL DISORDER THROUGH DEFECTIVE X-INACTIVATION MAINTENANCE
Thomas Besnard, Agnese Loda, Emma Kneuss, Laura Do Souto, Frédéric Ebstein, Virginie Vignard, Wallid Deb, Sébastien Küry, Meriem M Derradji-Costea, Gaëlle Landeau‐Trottier, Patricia Talarmain, Eva Trochu, Valeria Leonor Dután Patiño, Amélie Piton, Jean-Baptiste Lamouche, , Bertrand Isidor
The paper identifies a female-specific neurodevelopmental disorder caused by biallelic CIZ1 loss-of-function variants, which disrupt X-chromosome inactivation maintenance.
medRxiv · Dec 20, 2025 · PreprintGenetic & Genomic Medicine