CHD8 intragenic deletion associated with autism spectrum disorder

Eur J Med Genet. 2016 Apr;59(4):189-94. doi: 10.1016/j.ejmg.2016.02.010. Epub 2016 Feb 26.

Abstract

Autism spectrum disorders (ASDs) are a heterogeneous group of neurodevelopmental disorders that are highly heritable. De novo genomic alterations are considered an important cause of autism spectrum disorders. Recent research has shown that de novo loss-of-function mutations in the chromodomain helicase DNA-binding protein 8 (CHD8) gene are associated with an increased risk of ASD. We describe a single case of an intragenic deletion of exons 26-28 in the CHD8 gene in a patient with autism and global developmental delay. Our clinical case supports the hypothesis that CHD8 may play a central role in neuronal cell development and ASD risk.

Keywords: ASD; Autism; Autism spectrum disorders; CHD8.

Publication types

  • Case Reports

MeSH terms

  • Autism Spectrum Disorder / genetics*
  • Autism Spectrum Disorder / pathology
  • Child
  • DNA-Binding Proteins / genetics*
  • Developmental Disabilities / genetics*
  • Developmental Disabilities / pathology
  • Exons / genetics
  • Gene Deletion
  • Humans
  • Male
  • Mutation
  • Transcription Factors / genetics*

Substances

  • CHD8 protein, human
  • DNA-Binding Proteins
  • Transcription Factors