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EYA1 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

EYA1 gene

The EYA1 gene provides instructions for making a protein essential for the normal development of tissues in the neck, eyes, ears, and kidneys before birth.

Normal Function

The EYA1 gene provides instructions for making a protein that plays a role in regulating the activity of other genes. Based on this role, the EYA1 protein is called a transcription factor or transcription coactivator.

The EYA1 protein interacts with several other proteins, including a group known as SIX proteins, to turn on (activate) and turn off (inactivate) genes that are important for normal development. Before birth, these protein interactions appear to be essential for the normal formation of many tissues. These include the second branchial arch, which gives rise to tissues in the front and side of the neck, and the eyes, ears, and kidneys. After birth, these interactions are important for normal organ function.

Health Conditions Related to Genetic Changes

Branchiootorenal/branchiootic syndrome

At least 160 mutations in the EYA1 gene have been identified in people with branchiootorenal (BOR) syndrome, a condition that disrupts the development of tissues in the neck and causes malformations of the ears and kidneys. EYA1 gene mutations have also been found to cause branchiootic (BO) syndrome, which includes many of the same features as BOR syndrome except for kidney (renal) malformations. The two conditions are otherwise so similar that researchers often consider them together (BOR/BO syndrome or branchiootorenal spectrum disorders).

Many of the mutations that cause BOR/BO syndrome change the 3-dimensional structure of the EYA1 protein, which prevents it from interacting effectively with other proteins. Because these protein interactions are necessary for the activation of certain genes during embryonic development, the altered EYA1 protein impairs the normal development of many tissues before birth. The major signs and symptoms of BOR/BO syndrome result from abnormal development of the second branchial arch, the ears, and (in BOR syndrome) the kidneys.

In some cases, the same EYA1 gene mutation causes BOR syndrome in some members of a family and BO syndrome in others. This variability might result from changes in other, unidentified genes that affect how the EYA1 protein functions in the kidneys.

Congenital anomalies of kidney and urinary tract

MedlinePlus Genetics provides information about Congenital anomalies of kidney and urinary tract.

Other disorders

Several mutations in the EYA1 gene have been associated with eye abnormalities including clouding of the lens (cataracts) and clouding of the clear front surface of the eye (the cornea). These abnormalities occur without the characteristic features of BOR/BO syndrome. Researchers believe that the EYA1 gene mutations responsible for eye abnormalities have less severe effects on protein function than the mutations that underlie BOR/BO syndrome.

Other Names for This Gene

  • BOP
  • BOR
  • EYA1_HUMAN
  • eyes absent 1
  • eyes absent homolog 1 (Drosophila)
  • eyes absent, Drosophila, homolog of, 1

Frequently Asked Questions

Confirmation is done through targeted genetic testing, typically a next‑generation sequencing panel that includes the EYA1 gene. A blood or saliva sample is collected, DNA is extracted, and the gene is sequenced to identify pathogenic variants. A positive result is usually followed by a genetic counseling session.
EYA1 mutations are inherited in an autosomal dominant pattern, meaning each child has a 50 % chance of inheriting the mutation. However, the severity can vary widely. Prenatal testing (amniocentesis or chorionic villus sampling) or pre‑implantation genetic diagnosis can determine if the fetus carries the mutation before birth. Genetic counseling is recommended for families considering future pregnancies.===
Children with EYA1 mutations often develop branchial cleft cysts or fistulas in the neck, ear malformations such as microtia or hearing loss, and kidney anomalies ranging from cystic dysplasia to horseshoe kidneys. These features can be detected by physical exam, imaging, and audiology testing early in life.
Yes. Regular monitoring of kidney function with serum creatinine, urinalysis, and imaging is essential. If progressive kidney disease develops, interventions such as blood pressure control, dietary modifications, or, in severe cases, dialysis or kidney transplantation may be required. Early nephrology referral improves outcomes.
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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