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

The NeuroDev Project

Research output: Contribution to journalArticlepeer-review

1 Citation (Scopus)

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.

Original languageEnglish
Pages (from-to)2800-2810.e5
JournalNeuron
Volume111
Issue number18
DOIs
Publication statusPublished - 20 Sept 2023

Keywords

  • Kenya
  • South Africa
  • autism
  • de novo variants
  • developmental disorders
  • diverse populations
  • exome sequencing
  • genetics
  • intellectual disability
  • phenotypes

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