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Updated: May 31, 2025

Array Comparative Genomic Hybridization Array CGH for Detection of Genomic Copy Number Variants
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DNA copy number variations and craniofacial abnormalities in 1,457 children with neurodevelopmental disorders

Dandan Wu1, Ran Chen2, Jerry Zhang3

  • 1Child Mental Health Deparment, Children's Hospital of Nanjing Medical University, NanjingJiangsu, 210008, China.

Italian Journal of Pediatrics
|January 24, 2025
PubMed

Insights

Whole-exome sequencing identified DNA copy number variations (CNVs) in children with neurodevelopmental disorders and craniofacial abnormalities. Pathogenic CNVs were more prevalent in children with craniofacial features, suggesting their role in these conditions.

Area of Science:

  • Genetics
  • Pediatrics
  • Medical Diagnostics

Background:

  • Investigating genetic factors in pediatric neurodevelopmental disorders (NDDs).
  • Examining the link between DNA copy number variations (CNVs) and craniofacial abnormalities in children.

Purpose of the Study:

  • To identify DNA copy number variations (CNVs) in children with NDDs and craniofacial abnormalities.
  • To determine the association between specific CNVs and the severity of craniofacial features.

Main Methods:

  • Whole-exome sequencing on 1,457 children with unexplained NDDs.
  • Sanger sequencing for validation and pedigree analysis.
  • Utilized a sign-scoring scale to quantify craniofacial characteristics.

Main Results:

  • Identified genetic variations in 36.78% of children; 29.29% had CNVs (microdeletions and microduplications).
  • Pathogenic CNVs were significantly more common in children with craniofacial abnormalities (P < 0.05).
  • Microdeletions showed a stronger association with craniofacial anomalies than microduplications.

Conclusions:

  • Whole-exome sequencing demonstrates a high diagnostic yield for children with combined NDDs and craniofacial issues.
  • Recommends whole-exome sequencing for accurate diagnosis of neurogenetic disorders presenting with these combined features.
Abstract

Keywords:
ChildrenCopy-number variationMicrodeletionsMicroduplicationsNeurodevelopmental disordersWhole-exome sequencing

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