De novo missense variants in TRIM28 identified in individuals with neurodevelopmental delay show features of transposable element activation
Laura Castilla‐Vallmanya, Ninoslav Pandiloski, Carrie Davis-Hansson, Fereshteh Dorahezi, Ofelia Karlsson, María Isabel Álvarez‐Mora, Irene Madrigal, Francisco Barros, Alison M. Muir, Chitra Prasad, Samantha Colaiacovo, Christopher H. Douse, Susana Balcells, Raquel Rabionet, Johan Jakobsson
TRIM28 missense variants in individuals with neurodevelopmental delay disrupt epigenetic control of transposable elements, leading to altered gene expression and neurodevelopmental defects.
bioRxiv · Jul 7, 2026 · PreprintNeuroscience