Genetic background of idiopathic neurodevelopmental delay patients with significant brain deviation volume.

ABSTRACT:

Background

Significant brain volume deviation is an essential phenotype in children with neurodevelopmental delay (NDD), but its genetic basis has not been fully characterized. This study attempted to analyze the genetic factors associated with significant whole-brain deviation volume (WBDV).

Methods

We established a reference curve based on 4222 subjects ranging in age from the first postnatal day to 18 years. We recruited only NDD patients without acquired etiologies or positive genetic results. Cranial magnetic resonance imaging (MRI) and clinical exome sequencing (2742 genes) data were acquired. A genetic burden test was performed, and the results were compared between patients with and without significant WBDV. Literature review analyses and BrainSpan analysis based on

SUBMITTER: Chen X 

PROVIDER: S-EPMC10150856 | biostudies-literature | 2023 Apr

REPOSITORIES: biostudies-literature