DNA copy number variations and craniofacial abnormalities in 1,457 children with neurodevelopmental disorders.

ABSTRACT:

Background

This study aimed to investigate deoxyribonucleic acid (DNA) copy number variations (CNVs) in children with neurodevelopmental disorders and their association with craniofacial abnormalities.

Methods

A total of 1,457 children who visited the Child Health Department of our hospital for unexplained Neurodevelopmental disorders (NDDs) between November 2019 and December 2022 were enrolled. Peripheral venous blood samples (2 mL) were collected from the children and their parents for whole-exome sequencing. Positive results were verified through Sanger sequencing for locus and pedigree validation. Simultaneously, a specific sign-scoring scale was created to evaluate characteristics related to the developments of eyes, nose, ears, eyebrows, head, mouth, face, trunk, limbs

SUBMITTER: Wu D 

PROVIDER: S-EPMC11756179 | biostudies-literature | 2025 Jan

REPOSITORIES: biostudies-literature