Whole-Exome Sequencing Identifies Novel Genetic Variants Associated with Unexplained Neurodevelopmental Disorders in Children.

ABSTRACT: Neurodevelopmental disorders (NDDs) are a heterogeneous group of conditions characterised by impairments in cognition, motor function, behaviour, and social interaction. Their genetic basis is highly diverse, and next-generation sequencing has become central to improving diagnostic yield. We retrospectively analysed 94 paediatric patients (0-18 years) with NDDs referred to the Paediatric and Rare Diseases Clinic, Microcitemico Hospital "A. Cao," between January 2019 and July 2024. Each patient underwent detailed clinical evaluation and whole-exome sequencing (WES). Variants were prioritised according to ACMG guidelines. Gene burden analysis of rare predicted loss-of-function variants was performed using the Cohort Allelic Sums Test to detect enrichment in NDD cases relative to controls. WE

SUBMITTER: Mancuso G 

PROVIDER: S-EPMC12842178 | biostudies-literature | 2026 Jan

REPOSITORIES: biostudies-literature