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CDH23 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

CDH23 gene

The CDH23 gene provides instructions for making cadherin 23, a protein critical for hearing, balance, and vision.

Normal Function

The CDH23 gene provides instructions for making cadherin 23, a type of protein that helps cells stick together. Different versions of this protein are made in different cell types, including a short version in the retina, which is the light-sensitive layer in the back of the eye, and a longer version in the inner ear. Cadherin 23 interacts with other proteins in the cell membrane as part of a protein complex that is involved in cell attachment.

Research suggests that the cadherin 23 protein complex helps to shape structures in the inner ear called hair bundles. These structures are made of stereocilia, which are hairlike projections that bend in response to sound waves. This bending motion is critical for converting sound waves to nerve impulses, which are then transmitted to the brain. Stereocilia are also elements of the vestibular system, the part of the inner ear that helps maintain the body's balance and orientation in space. In the retina, studies suggest that the cadherin 23 protein complex plays a critical role in the function of photoreceptor cells, which are specialized cells that detect light and color.

Health Conditions Related to Genetic Changes

Usher syndrome

More than 60 mutations in the CDH23 gene can cause Usher syndrome type I, which is characterized by a combination of hearing loss, vision loss, and problems with balance and coordination. Specifically, CDH23 gene mutations cause a form of the disorder known as Usher syndrome type ID (USH1D).

Most of these mutations disrupt protein production, resulting in an abnormally small, nonfunctional version of cadherin 23 or preventing the production of any of this protein. A lack of this protein in the inner ear disrupts the normal development and function of stereocilia, which leads to hearing loss and difficulty with balance and coordination. A lack of this protein in the retina causes retinitis pigmentosa, a condition in which light-sensing cells of the retina gradually deteriorate, resulting in progressive vision loss.

Other Names for This Gene

  • CAD23_HUMAN
  • cadherin-23
  • cadherin-like 23
  • cadherin-related 23
  • CDHR23
  • DFNB12
  • KIAA1774
  • KIAA1812
  • otocadherin
  • USH1D

Frequently Asked Questions

Usher syndrome type 1D is autosomal‑dominant only when a pathogenic CDH23 variant is present; a negative test essentially eliminates the risk for that specific genetic form. However, rare cases of de novo mutations or other Usher‑related genes exist, so if the sibling shows any hearing or vision symptoms, they should still be evaluated clinically.
CDH23 testing can confirm the molecular cause of Usher type 1D, but it does not reliably predict how severe or rapidly progressive the hearing loss will be. Most individuals with pathogenic CDH23 variants experience profound congenital deafness, but the exact degree can vary. Management focuses on early fitting of cochlear implants or hearing aids, regardless of genotype.
nnual comprehensive ophthalmologic exams, including optical coherence tomography and visual field testing, are recommended once vision changes begin. While no cure exists, low‑vision aids, vitamin A supplementation (under specialist supervision), and participation in clinical trials for gene‑therapy or retinal‑protective agents may help preserve function. Early detection of cataracts or macular changes allows timely surgical or therapeutic interventions.
Yes. Children with CDH23 mutations who have little or no residual hearing typically benefit from cochlear implantation. Outcomes are comparable to other causes of congenital deafness, especially when implantation occurs before 2 years of age. Ongoing auditory rehabilitation and speech therapy are essential for optimal language development.
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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