Theresa Brunet, Robert Jech, Melanie Brugger, Reka Kovacs, Bader Alhaddad, Gloria Leszinski, Korbinian M Riedhammer, Dominik S Westphal, Isabella Mahle, Katharina Mayerhanser, Matej Skorvanek, Sandrina Weber, Elisabeth Graf, Riccardo Berutti, Ján Necpál, Petra Havránková, Petra Pavelekova, Maja Hempel, Urania Kotzaeridou, Georg F Hoffmann, Steffen Leiz, Christine Makowski, Timo Roser, Sebastian A Schroeder, Robert Steinfeld, Gertrud Strobl-Wildemann, Julia Hoefele, Ingo Borggraefe, Felix Distelmaier, Tim M Strom, Juliane Winkelmann, Thomas Meitinger, Michael Zech, Matias Wagner
Up to 40% of neurodevelopmental disorders (NDDs) such as intellectual disability, developmental delay, autism spectrum disorder, and developmental motor abnormalities have a documented underlying monogenic defect, primarily due to de novo variants. Still, the overall burden of de novo variants as well as novel disease genes in NDDs await discovery. We performed parent-offspring trio exome sequencing in 231 individuals with NDDs. Phenotypes were compiled using HPO terms. The overall diagnostic yield was 49.8% (n=115/231) with de novo variants contributing to more than 80% (n=93/115) of all solved cases...
February 22, 2021: Clinical Genetics