Copy number variation analysis in 83 children with early-onset developmental and epileptic encephalopathy after targeted resequencing of a 109-epilepsy gene panel

J Hum Genet. 2019 Nov;64(11):1097-1106. doi: 10.1038/s10038-019-0661-x. Epub 2019 Aug 30.

Abstract

Early-onset developmental and epileptic encephalopathy (DEE) is a group of devastating disorders that appear during the neonatal and infantile periods. Despite great progress in the discovery of genes leading to early-onset DEE, many cases with unexplained etiology remain. Furthermore, to date, the association of copy number variations (CNVs) with early-onset DEE has seldom been addressed. Here, we investigated the contribution of CNVs to epilepsy in a cohort of Japanese children with a variety of early-onset DEEs. Single nucleotide polymorphism (SNP) array analysis was performed for 83 cases that were previously negative for pathogenic single nucleotide variants (SNVs) in 109 genes known or suspected to cause epileptic seizures. Rare CNVs were detected in a total of 12 cases (14.4%), of which three cases (3.6%) involved clearly pathogenic CNVs and nine cases (10.8%) were CNVs of uncertain significance. The three pathogenic CNVs included two de novo heterozygous deletions involving known epileptic encephalopathy genes, such as GABRG2 and PCDH19, and one maternally inherited duplication encompassing MECP2. Our findings indicate rare CNVs are also relevant for the diagnosis of early-onset DEEs, highlighting the importance of not relying only on the investigation of SNVs/small indels at the risk of missing large deletions and duplications.

MeSH terms

  • Cadherins / genetics
  • Child
  • DNA Copy Number Variations / genetics*
  • Developmental Disabilities / genetics*
  • Developmental Disabilities / physiopathology
  • Female
  • Humans
  • Infant
  • Infant, Newborn
  • Male
  • Methyl-CpG-Binding Protein 2 / genetics
  • Polymorphism, Single Nucleotide / genetics
  • Protocadherins
  • Receptors, GABA-A / genetics
  • Seizures / genetics*
  • Seizures / physiopathology
  • Spasms, Infantile / genetics*
  • Spasms, Infantile / physiopathology

Substances

  • Cadherins
  • GABRG2 protein, human
  • MECP2 protein, human
  • Methyl-CpG-Binding Protein 2
  • PCDH19 protein, human
  • Protocadherins
  • Receptors, GABA-A

Supplementary concepts

  • Infantile Epileptic-Dyskinetic Encephalopathy