title: CHD8 intragenic deletion associated with autism spectrum disorder.
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.
authors.affiliation: Greenwood Genetic Center, Greenwood, SC, 29646, USA. Electronic address: estolerman@ggc.org.
authors.forename: Elliot S
authors.initials: ES
authors.lastname: Stolerman
authors.affiliation: Greenwood Genetic Center, Greenwood, SC, 29646, USA.
authors.forename: Brooke
authors.initials: B
authors.lastname: Smith
authors.affiliation: Greenwood Genetic Center, Greenwood, SC, 29646, USA.
authors.forename: Alka
authors.initials: A
authors.lastname: Chaubey
authors.affiliation: Greenwood Genetic Center, Greenwood, SC, 29646, USA.
authors.forename: Julie R
authors.initials: JR
authors.lastname: Jones
mesh_terms: D000067877:Autism Spectrum Disorder / Q000235:genetics* / Q000473:pathology; D002648:Child; D004268:DNA-Binding Proteins / Q000235:genetics*; D002658:Developmental Disabilities / Q000235:genetics* / Q000473:pathology; D005091:Exons / Q000235:genetics; D017353:Gene Deletion; D006801:Humans; D008297:Male; D009154:Mutation; D014157:Transcription Factors / Q000235:genetics*
chemical_list: C523331:CHD8 protein, human; D004268:DNA-Binding Proteins; D014157:Transcription Factors
keywords: ASD; Autism; Autism spectrum disorders; CHD8