Format

Send to

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

CHD8 intragenic deletion associated with autism spectrum disorder.

Author information

1
Greenwood Genetic Center, Greenwood, SC, 29646, USA. Electronic address: estolerman@ggc.org.
2
Greenwood Genetic Center, Greenwood, SC, 29646, USA.

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

PMID:
26921529
DOI:
10.1016/j.ejmg.2016.02.010
[Indexed for MEDLINE]

Supplemental Content

Full text links

Icon for Elsevier Science
Loading ...
Support Center