Natalie Ahmad, Walid Fazeli, Sophia Schließke, Gaetan Lesca, Zeynep Gokce-Samar, Kedous Y Mekbib, Sheng Chih Jin, Jennifer Burton, George Hoganson, Andrea Petersen, Sara Gracie, Leslie Granger, Enrika Bartels, Henry Oppermann, Adam Kundishora, Marianne Till, Clara Milleret-Pignot, Shane Dangerfield, David Viskochil, Katherine J Anderson, Timothy Blake Palculict, Rhonda E Schnur, Ingrid M Wentzensen, George E Tiller, Kristopher T Kahle, Wolfram S Kunz, Sebastian Burkart, Matias Simons, Heinrich Sticht, Rami Abou Jamra, Sonja Neuser
BACKGROUND: RAB11B was described previously once with a severe form of intellectual disability. We aim at validation and delineation of the role of RAB11B in neurodevelopmental disorders. METHODS: We present seven novel individuals with disease-associated variants in RAB11B when compared with the six cases described in the literature. We performed a cross-sectional analysis to identify the clinical spectrum and the core phenotype. Additionally, structural effects of the variants were assessed by molecular modeling...
August 24, 2023: Pediatric Neurology