HomeGeneticsGeneCHD2 gene
Back to Gene
CHD2 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

CHD2 gene

The CHD2 gene provides instructions for making a protein that regulates gene activity through chromatin remodeling, playing an important role in the development and function of nerve cells.

Normal Function

The CHD2 gene provides instructions for making a protein called chromodomain DNA helicase protein 2. This protein is found in cells throughout the body and regulates gene activity (expression) through a process known as chromatin remodeling. Chromatin is the complex of DNA and proteins that packages DNA into chromosomes. By changing the structure of chromatin, the protein alters how tightly DNA is packaged; when DNA is tightly packed, gene expression is lower than when it is loosely packed. Research suggests this protein helps control the development or functioning of nerve cells (neurons).

Health Conditions Related to Genetic Changes

CHD2 myoclonic encephalopathy

At least 30 mutations in the CHD2 gene have been found to cause CHD2 myoclonic encephalopathy, a condition characterized by recurrent seizures (epilepsy), abnormal brain function (encephalopathy), and intellectual disability beginning in childhood. These mutations prevent the production of the protein or lead to a nonfunctional version, disrupting chromatin remodeling and gene expression in the brain.

Autism spectrum disorder

At least nine CHD2 gene mutations have been identified in people with autism spectrum disorder (ASD). These mutations impair the function of the CHD2 protein, resulting in small changes in the expression of many genes that affect brain development and increase the risk of ASD.

Lennox-Gastaut syndrome

MedlinePlus Genetics provides information about Lennox-Gastaut syndrome.

Other Names for This Gene

  • ATP-dependent helicase CHD2
  • CHD-2
  • EEOC
  • FLJ38614

Genomic Location

The CHD2 gene is found on chromosome 15.

Frequently Asked Questions

clinical exome or targeted epilepsy gene panel that includes CHD2 is the standard test. Blood is drawn in a standard EDTA tube; no special diet or medication changes are needed. If a child is being tested, a buccal swab can be an alternative. Ask the laboratory whether trio testing (child + both parents) is offered, as it helps determine whether the variant is de novo.
Most CHD2 pathogenic variants are de novo, meaning they arise spontaneously in the affected child and are not present in either parent. In these cases the recurrence risk for future siblings is low (≈1 %). If a parent is found to carry the variant (rarely through germline mosaicism), the risk follows an autosomal‑dominant pattern (≈50 %). Genetic counseling and parental testing are recommended to clarify the specific risk for each family.
Seizure control in CHD2‑related epilepsy can be challenging, but several clinicians report better response to broad‑spectrum agents such as valproic acid, levetiracetam, or clobazam. Some patients benefit from a ketogenic diet or vagus‑nerve stimulation when medications are insufficient. Treatment should be individualized and monitored closely by a neurologist experienced in genetic epilepsies.
Early intervention is critical. Speech‑language therapy, occupational therapy focusing on fine‑motor and sensory integration, and individualized education plans (IEPs) can address delays. Behavioral therapy may help with autism‑like features. Regular neuropsychological assessments guide therapy intensity, and families should consider enrolling in clinical trials for novel therapies when available.
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.

kontakt@hittavard.se

Ⓒ 2024. Alla rättigheter förbehålls av juxt ab

Sök
Om ossVillkor och policyVanliga frågorKontakta oss