Genetic Characterization of 128 Chinese Individuals with Neurodevelopmental Disorders via Whole-Exome Sequencing.

ABSTRACT:

Introduction

Neurodevelopmental disorders (NDDs) are chronic conditions marked by abnormal brain development, presenting with significant clinical heterogeneity. Early diagnosis is crucial but challenging due to the complex symptoms. Genetic factors play a dominant role in NDD etiology. This study was to evaluate the diagnostic utility of dual-dimension whole-exome sequencing (WES) analysis in Chinese patients with NDDs and to deepen the understanding of genotype-phenotype correlations.

Methods

This study retrospectively analyzed WES data of 128 Chinese NDD patients from Hubei Maternal and Child Health Hospital (July 2020-March 2024) for single-nucleotide variants (SNVs)/small insertions-deletions (Indels) and copy number variants (CNVs). Pathway enrichment, tissue-expressio

SUBMITTER: Qin Y 

PROVIDER: S-EPMC12707888 | biostudies-literature | 2025 Oct

REPOSITORIES: biostudies-literature