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

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

JOURNAL=Frontiers in Genetics

VOLUME=12

YEAR=2021

URL=https://www.frontiersin.org/journals/genetics/articles/10.3389/fgene.2021.738561

DOI=10.3389/fgene.2021.738561

ISSN=1664-8021

ABSTRACT=<p><bold>Background:</bold> 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).</p><p><bold>Methods:</bold> WES and exome-based copy number variation (CNV) analysis were performed for 17 patients with unexplained DD/ID.</p><p><bold>Results:</bold> 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).</p><p><bold>Conclusion:</bold> 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.</p>