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CHD7 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

CHD7 gene

The CHD7 gene provides instructions for making a protein essential for chromatin remodeling and embryonic development, with mutations linked to conditions like CHARGE syndrome and Kallmann syndrome.

Normal Function

The CHD7 gene provides instructions for making a protein called chromodomain helicase DNA binding protein 7. This protein is found in many parts of the body before birth, including the eye, the inner ear, and the brain. In the brain, the CHD7 protein is active in several areas, including a bundle of nerve cells (neurons) called the olfactory bulb that is critical for the perception of odors.

The CHD7 protein belongs to a family of proteins that are thought to play a role in the organization of chromatin. Chromatin is the complex of DNA and protein that packages DNA into chromosomes. The CHD7 protein regulates the activity (expression) of several other genes through a process known as chromatin remodeling. The structure of chromatin can be changed (remodeled) to alter how tightly DNA is packaged. When DNA is tightly packed, gene expression is lower than when DNA is loosely packed.

Health Conditions Related to Genetic Changes

CHARGE syndrome

Mutations in the CHD7 gene cause CHARGE syndrome, a disorder that affects many areas of the body. CHARGE is an abbreviation for several of the features common in the disorder:

  • Coloboma
  • Heart defect
  • Atresia choanae (also known as choanal atresia)
  • Growth retardation
  • Genital abnormality
  • Ear abnormality

More than 600 mutations that can cause CHARGE syndrome have been identified. Most of these mutations lead to the production of an abnormal CHD7 protein that is broken down prematurely. Shortage of this protein is thought to disrupt chromatin remodeling and the regulation of gene expression during embryonic development.

Kallmann syndrome

More than 50 mutations in the CHD7 gene have been identified in people with Kallmann syndrome, a disorder characterized by the combination of hypogonadotropic hypogonadism (a condition affecting the production of hormones that direct sexual development) and an impaired sense of smell. Mutations in this gene account for 5 to 10 percent of all cases of Kallmann syndrome.

Many people with Kallmann syndrome caused by a CHD7 gene mutation have some features of CHARGE syndrome, such as abnormally shaped ears and hearing loss, though the symptoms tend to be much less severe. Researchers suspect that Kallmann syndrome resulting from a CHD7 mutation may represent a mild form of CHARGE syndrome.

Anophthalmia/Microphthalmia and Coloboma

The CHD7 gene is also associated with Anophthalmia/Microphthalmia and Coloboma.

Genomic Location

The CHD7 gene is found on chromosome 8.

Frequently Asked Questions

Immediate priorities focus on airway and cardiovascular stabilization. Clinicians must evaluate for choanal atresia and tracheoesophageal fistulas to prevent asphyxiation, perform an echocardiogram to detect congenital heart defects, and assess swallowing safety because cranial nerve dysfunction creates a high aspiration risk. Subsequent essential evaluations include comprehensive audiological and ophthalmological exams (to check for colobomas and hearing loss), renal ultrasonography, and baseline endocrine evaluations.
Most CHD7 mutations causing CHARGE syndrome occur de novo as new spontaneous mutations, meaning neither parent carries the altered gene and the recurrence risk for future pregnancies is low (approximately 1% to 2% due to possible germline mosaicism). However, when an affected individual has children, the condition follows an autosomal dominant inheritance pattern, giving a 50% chance of passing the pathogenic variant to each child. Parental genetic testing is routinely recommended to rule out mosaicism or a mild familial variant.
The CHD7 protein is essential for the normal development and migration of olfactory neurons and gonadotropin-releasing hormone (GnRH) producing cells in the fetal brain. When CHD7 is disrupted, the olfactory bulbs fail to develop properly, leading to anosmia (inability to smell), and the hypothalamic-pituitary-gonadal axis is impaired, resulting in hypogonadotropic hypogonadism. This manifests as micropenis or cryptorchidism at birth and an absence or delay of spontaneous puberty during adolescence, requiring sex hormone replacement therapy.
Yes. CHD7 mutations exhibit marked variable expressivity, even among members of the same family carrying the exact same genetic change. While classic CHARGE syndrome presents with severe, multi-organ anomalies, some individuals present with milder, atypical phenotypes, such as isolated hearing loss, subtle ear shape abnormalities, or delayed puberty (often diagnosed as Kallmann syndrome) without major life-threatening birth defects.
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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