Monoallelic de novo variants in DDX17 cause a novel neurodevelopmental disorder
Eleanor G. Seaby, Annie Godwin, Valentine Clerc, Géraldine Meyer-Dilhet, Xavier Grand, Tia Fletcher, Laloé Monteiro, Valério Carelli, Flavia Palombo, Marco Seri, Giulia Olivucci, Mina Grippa, Claudia Ciaccio, Stefano D’Arrigo, Maria Rosaria Iascone, , Sarah Ennis
The paper identifies de novo monoallelic DDX17 variants in 11 patients with neurodevelopmental disorders and shows DDX17 dysfunction causes neuronal migration and axon outgrowth defects in multiple models.
medRxiv · Oct 11, 2023 · PreprintGenetic & Genomic Medicine