Skip to content

Genes and Usher Syndrome

Usher syndrome is a rare disease that causes deafness or hearing loss and an eye disease called retinitis pigmentosa (RP). Sometimes, it also causes problems with balance.

Usher syndrome is caused by changes in genes. It’s an inherited genetic disease, which means parents pass down these changed genes  that parents pass it down to their children. If you have Usher syndrome or it runs in your family, you can get genetic testing to learn more about the risk of passing it to your child.

How do genes cause Usher syndrome?

Usher syndrome is caused by changes to certain genes related to sight, hearing, and balance.

There are 3 types of Usher syndrome, and each type causes a different mix of hearing loss, balance issues, and vision problems. Researchers have found at least 9 genes that can cause the different types of Usher syndrome:    

  • Type 1 genes include: MY07A, USH1C, CDH23, PCHD15, and USH1G
  • Type 2 genes include: USH2A, GPR98, and WHRN
  • Type 3 genes include: CLRN1

You can only get Usher syndrome if you inherit 2 copies of an abnormal (changed) gene — 1 from each parent. This type of inheritance is called autosomal recessive inheritance.

If you only inherit 1 copy of an abnormal Usher syndrome gene, you won’t have symptoms of the disease. People with only 1 copy of the abnormal gene are called carriers.

If I have an Usher syndrome gene, will I pass it down to my child?

If you have Usher syndrome, you’ll always pass down 1 abnormal copy of the abnormal gene to each of your children. If you’re an Usher syndrome carrier, you have a 1 in 2 chance of passing down the gene copy to each child. 

But your children will only have symptoms if they get a second copy of the same abnormal Usher syndrome gene from their other parent. In fact, if 2 people with the same abnormal gene Usher syndrome carriers have a child together, that child has only a 1 in 4 chance of having symptoms of Usher syndrome.

Can I get tested for Usher syndrome genes?

Yes, there are genetic tests for the genes that cause Usher syndrome.

If you have Usher syndrome or it runs in your family, you can talk with your doctor or a specialist called a genetic counselor to learn more about the risk of passing Usher syndrome down to your child.

Can my child get tested for Usher syndrome genes?

If your child has symptoms of Usher syndrome, their doctor may recommend genetic testing to find out for sure.

Genetic testing can also help predict how Usher syndrome may affect your child’s sight, hearing, and balance in the future. This information can help you and your doctor find the right treatment plan for your child. 

Last updated: November 10, 2021