How are the results of an Usher gene test interpreted?

There are four possible outcomes to an Usher gene test:

No mutations are detected:
If no mutations are found, and the entire coding sequence was analyzed in a gene, it is unlikely that the hearing loss is caused by mutations in that specific gene. However, the patient may have Usher syndrome due to mutations in another gene that causes Usher syndrome. Not all genes for Usher syndrome have been identified.

Two mutations are detected:
If two identical mutations or two different mutations in the same gene are found, and these mutations have been previously found to cause Usher syndrome, it can be assumed that the hearing loss is caused by these mutations.

Only one mutation is detected:
If only one mutation is detected, interpretation can be difficult.

  • It is possible that the test did not detect the second mutation. Even though examining the whole coding sequence of the gene will detect most mutations, there are other regions of the gene sequence and surrounding DNA that could contain a mutation. Unfortunately, these sequences are rarely analyzed unless a specific mutation is already known.
  • The mutation that was found may be unrelated to the hearing loss.

Mutations were detected but their significance is unknown:
Some changes in these genes are not considered to affect the function of the gene. These changes are often called “polymorphisms”. Sometimes, a new mutation is found and it is not yet clear whether the change will cause hearing loss or not. Unfortunately, more studies would need to be done before a definite conclusion could be made.

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