Utility of genome sequencing in exome-negative pediatric patients with neurodevelopmental phenotypes.

ABSTRACT: Exome sequencing (ES) has emerged as an essential tool in the evaluation of neurodevelopmental disorders (NDD) of unknown etiology. Genome sequencing (GS) offers advantages over ES due to improved detection of structural, copy number, repeat number and non-coding variants. However, GS is less commonly utilized due to higher cost and more intense analysis. Here, we present nine cases of pediatric NDD that were molecularly diagnosed with GS between 2017 and 2022, following non-diagnostic ES. All individuals presented with global developmental delay or regression. Other features present in our cohort included epilepsy, white matter abnormalities, brain malformation and dysmorphic features. Two cases were diagnosed on GS due to newly described gene-disease relationship or variant reclassificat

SUBMITTER: Nomakuchi TT 

PROVIDER: S-EPMC11540733 | biostudies-literature | 2024 Dec

REPOSITORIES: biostudies-literature