Phenotype and genetic analysis of data collected within the first year of NeuroDev

Abstract

SummaryGenetic association studies have made significant contributions to our understanding of the aetiology of neurodevelopmental disorders (NDDs). However, the vast majority of these studies have focused on populations of European ancestry, and few include individuals from 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. Here we present results from NeuroDevs first year of data collection, including phenotype data from 206 cases and clinical genetic analysis of 99 parent-child trios. The majority of the 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, and 14.6% met criteria for autism alone. 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, as well as 7 total cases with suspicious variants of uncertain significance (VUS) in emerging disease genes that were matched through the MatchMaker Exchange. Data from the trio pilot cases has already been made publicly available, and the NeuroDev project will continue to develop resources for the global genetics community.