Phenotype and genetic analysis of data collected within the first year of NeuroDev
Patricia Kipkemoi, Heesu Ally Kim, Björn Christ, Emily O’Heir, Jake Allen, Christina Austin‐Tse, Samantha Baxter, Harrison Brand, Sam Bryant, Nick Buser, Victoria de Menil, Emma Eastman, Serini Murugasen, Alice Galvin, Martha Kombe, Alfred Ngombo, Beatrice Mkubwa, Paul Mwangi, Collins Kipkoech, Alysia Kern Lovgren, Daniel G. MacArthur, Brigitte Melly, Katini Mwangasha, Alicia R. Martin, Lethukuthula L. Nkambule, Alba Sanchis‐Juan, Moriel Singer‐Berk, Michael E. Talkowski, Grace E. VanNoy, Celia van der Merwe, Charles R. Newton, Anne O’Donnell‐Luria, Amina Abubakar, Kirsten A. Donald, Elise Robinson
Abstract
Genetic association studies have made significant contributions to our understanding of the etiology of neurodevelopmental disorders (NDDs). However, these studies rarely focused on the African continent. The NeuroDev Project aims to address this diversity gap through detailed phenotypic and genetic characterization of children with NDDs from Kenya and South Africa. We present results from NeuroDev's first year of data collection, including phenotype data from 206 cases and clinical genetic analyses of 99 parent-child trios. Most cases met criteria for global developmental delay/intellectual disability (GDD/ID, 80.3%). Approximately half of the children with GDD/ID also met criteria for autism. Analysis of exome-sequencing data identified a pathogenic or likely pathogenic variant in 13 (17%) of the 75 cases from South Africa and 9 (38%) of the 24 cases from Kenya. Data from the trio pilot are publicly available, and the NeuroDev Project will continue to develop resources for the global genetics community.