Usher syndrome is an inherited condition that leads to hearing and vision loss that worsens over time. Hearing loss is due to abnormalities in the inner ear (sensorineural) and manifest as either partial or total hearing loss. Vision loss is the result of retinitis pigmentosa (RP), an eye disease that affects the light-sensitive layer of cells at the back of the eye (retina). Usher syndrome is classified into three main groups based on the severity of healing loss, balance problems and the age of onset designated type I, II and III.
Usher syndrome type 1F (USH1F) is one of 8 different subtypes. USH1F is caused by genetic variation in the PCDH15 gene, which gives instructions to a membrane protein. This protein plays an essential role in maintaining normal function in the retina and the cochlea, the spiral shaped bone in the inner ear whose function is necessary for hearing. People affected by USH1F make a defective PCDH15 protein, resulting in Usher disease.
Take this test to find out whether you are a genetic carrier of the PCDH15 variant and are at risk of passing it to your children. This is intended to be a carrier screening test for couples who are considering to start a family.
Usher syndrome type 1F is caused by genetic variation in the PCDH15 gene, which gives instructions to a membrane protein PCDH15. People with the variant 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 looks at one genetic variant of the PCDH15 gene linked to Usher Syndrome Type 1F, which is the most severe type of Usher syndrome.
- rs111033260 A (R245X)
Understanding your carrier status will help you understand the risk of passing on Usher syndrome to your children. While a carrier do not typically show signs and symptoms of the condition there is a 25% chance the child will inherit the disease if both parents are carriers.
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 Genebase account.
Step 2: Upload your DNA markers to Genebase.
Step 3: Login to your account to access your results when they are ready.