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CHD8 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

CHD8 gene

The CHD8 gene regulates gene expression during brain development, and mutations are associated with autism spectrum disorder.

Normal Function

The CHD8 gene provides instructions for making a protein that regulates gene activity through chromatin remodeling. By altering how tightly DNA is packaged, the CHD8 protein helps regulate gene expression during development.

The CHD8 protein is thought to affect the expression of many genes involved in brain development before birth. Specifically, it helps control the development of neural progenitor cells, which give rise to neurons, as well as the growth, division, and maturation of those neurons. By controlling these processes, the CHD8 protein helps regulate the number of neurons in the brain and prevents overgrowth.

Health Conditions Related to Genetic Changes

Autism spectrum disorder

More than 30 CHD8 gene mutations have been identified in people with autism spectrum disorder (ASD), a condition characterized by impaired social skills, communication problems, and repetitive behaviors. Mutations in the CHD8 gene impair the function of the CHD8 protein, which may interfere with its ability to control the number and growth of neurons in the brain. Excess neurons and overgrowth in parts of the brain are associated with ASD.

Genomic Location

The CHD8 gene is found on chromosome 14.

Frequently Asked Questions

Management requires an individualized, multidisciplinary approach. In addition to standard neurodevelopmental interventions like applied behavior analysis (ABA), speech-language therapy, and occupational therapy, clinical care must aggressively address medical comorbidities. Proactive pediatric gastroenterology management for chronic constipation often significantly reduces behavioral distress, and formal sleep hygiene protocols or melatonin therapy can help stabilize sleep-wake cycles.
The CHD8 protein acts as an epigenetic regulator and chromatin remodeler that places a brake on cell proliferation pathways, notably the Wnt/beta-catenin signaling cascade. In the presence of a loss-of-function mutation in CHD8, this regulatory brake is diminished during fetal brain development. Neural progenitor cells proliferate excessively, producing an overabundance of neurons and enlarged brain structures that disrupt normal neural circuit connectivity and synaptic communication.
CHD8 variants are diagnosed using comprehensive genetic testing, specifically chromosomal microarray, autism multi-gene sequencing panels, or whole exome/genome sequencing. The condition follows an autosomal dominant inheritance pattern; however, the vast majority of identified cases arise de novo (a new spontaneous mutation occurring in the egg or sperm). Consequently, parents typically do not carry the variant, and the recurrence risk for subsequent pregnancies is low, though parental genetic confirmation is recommended to rule out low-level mosaicism.
Individuals with a CHD8-related neurodevelopmental disorder often display a recognizable clinical subtype alongside autism spectrum disorder. This includes macrocephaly (an abnormally large head circumference), distinct facial features such as a prominent forehead and wide-set eyes, recurrent gastrointestinal complaints (most commonly severe, chronic constipation), and persistent sleep disturbances such as difficulty falling or staying asleep.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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