Frontiers in Genetics (Nov 2021)

Genetic Analysis of Children With Unexplained Developmental Delay and/or Intellectual Disability by Whole-Exome Sequencing

  • Jingjing Xiang,
  • Jingjing Xiang,
  • Yang Ding,
  • Yang Ding,
  • Fei Yang,
  • Fei Yang,
  • Ang Gao,
  • Ang Gao,
  • Wei Zhang,
  • Wei Zhang,
  • Hui Tang,
  • Hui Tang,
  • Jun Mao,
  • Jun Mao,
  • Quanze He,
  • Quanze He,
  • Qin Zhang,
  • Qin Zhang,
  • Ting Wang,
  • Ting Wang

DOI
https://doi.org/10.3389/fgene.2021.738561
Journal volume & issue
Vol. 12

Abstract

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Background: Whole-exome sequencing (WES) has been recommended as a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders (NDDs). We aimed to identify the genetic causes of 17 children with developmental delay (DD) and/or intellectual disability (ID).Methods: WES and exome-based copy number variation (CNV) analysis were performed for 17 patients with unexplained DD/ID.Results: Single-nucleotide variant (SNV)/small insertion or deletion (Indel) analysis and exome-based CNV calling yielded an overall diagnostic rate of 58.8% (10/17), of which diagnostic SNVs/Indels accounted for 41.2% (7/17) and diagnostic CNVs accounted for 17.6% (3/17).Conclusion: Our findings expand the known mutation spectrum of genes related to DD/ID and indicate that exome-based CNV analysis could improve the diagnostic yield of patients with DD/ID.

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