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MYO7A gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

MYO7A gene

The MYO7A gene provides instructions for making myosin VIIA, a protein essential for hearing, balance, and vision.

Normal Function

The MYO7A gene provides instructions for making a protein called myosin VIIA, which helps transport molecules within cells using actin filaments as tracks. This protein is primarily produced in the inner ear and the retina.

In the inner ear, myosin VIIA is critical for the development and maintenance of stereocilia—hairlike projections that bend in response to sound waves. This bending converts sound waves into nerve impulses. Stereocilia are also part of the vestibular system, which helps maintain balance and orientation.

In the retina, myosin VIIA is found in the retinal pigment epithelium (RPE), a layer of cells that supports and nourishes the retina. It helps carry melanosomes (pigment sacs) within the RPE, which is necessary for normal vision. It also transports other proteins important for retinal function.

Health Conditions Related to Genetic Changes

Usher syndrome

More than 200 mutations in the MYO7A gene have been identified in people with Usher syndrome type IB (USH1B). This condition is characterized by a combination of hearing loss, vision loss, and problems with balance and coordination.

These genetic changes lead to the production of a nonfunctional version of myosin VIIA or prevent the protein from being produced at all. The consequences include:

  • Inner Ear: Disruption of the normal development and function of stereocilia, leading to hearing loss and difficulty with balance.
  • Retina: Deterioration of light-sensing cells, a condition known as retinitis pigmentosa, which results in progressive vision loss.

Other conditions associated with MYO7A gene variants include age-related hearing loss and nonsyndromic hearing loss.

Frequently Asked Questions

Hearing loss may present as delayed speech, difficulty following instructions, or frequent requests for repetition. Vision problems often start with night‑time blurring, progressing to tunnel vision. Balance issues may manifest as frequent falls or clumsiness. Early audiologic and ophthalmologic evaluations are recommended before age 3.
While no cure exists, low‑vision aids, regular retinal imaging, and adherence to a diet rich in omega‑3 fatty acids and antioxidants (e.g., fish, leafy greens, berries) may support retinal health. Vision‑resting techniques and avoiding prolonged exposure to bright lights can also help. Early referral to a low‑vision specialist can maximize functional independence.
comprehensive approach includes a targeted next‑generation sequencing panel that covers the MYO7A gene, followed by Sanger sequencing of any detected variants to confirm pathogenicity. If a variant of uncertain significance is found, functional studies or segregation analysis in family members may be requested. The test requires a blood sample and typically takes 2–4 weeks for results.
MYO7A mutations cause autosomal recessive Usher syndrome type IB. Each parent is typically a carrier; there is a 25% chance of an affected child with each pregnancy. Carrier testing for at-risk relatives and pre‑implantation genetic diagnosis (PGD) during IVF are options for families wishing to avoid affected offspring. Genetic counseling is essential to discuss risks and reproductive choices.
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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