Usher syndrome is an inherited condition that leads to hearing and vision loss that worsens over time. Partial or total hearing loss occurs due to abnormalities in the inner ear (sensorineural). Vision loss is the result of retinitis pigmentosa, an eye disease that affects the light-sensitive layer of cells at the back of the eye (retina). Usher syndrome is classified into types I, II and III, based on the severity of hearing loss, balance problems, and the age of onset.
Usher syndrome type 1F (USH1F) is caused by genetic variation in the PCDH15 gene, which inhibits the function of the protocadherin-related 15 protein (PCDH15). This protein plays an essential role maintaining normal functions in the retina and the cochlea (spiral-shaped bone in the inner ear necessary for hearing).
Take this test to find out if you are a genetic carrier of a PCDH15 variant and are at risk of passing it to your children.
USH1F is caused by genetic variation in the PCDH15 gene. This gene gives instructions for the membrane protein PCDH15. Affected individuals produce a defective PCDH15 protein, leading to the hearing and vision loss associated with the disease.
USH1F is inherited in an autosomal recessive pattern, which means two defective copies of the PCDH15 gene must be inherited in order for the disease to manifest.
This test detects one genetic variant in the PCDH15 gene which causes USH1F.
- rs111033260 A (R245X)
Understanding your carrier status will help you understand the risk of passing this variant to your children.
Characteristic symptoms include:
- Deafness in both ears at birth
- Vision loss from childhood or adolescence onwards (retinitis pigmentosa)
- Poor balance (as the ears are affected)
- Delays learning to walk due to poor balance
- Life expectancy and intelligence are not affected
How It Works
Step 1: Sign up for a free DNA Access account.
Step 2: Upload your DNA markers to DNA Access.
Step 3: Log in to your account to access your results when they are ready.