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Newly-Discovered Genetic Mutation Responsible for Hearing Loss in Children

Background: Children with hearing loss face challenges learning to speak and interact with other people. Even though many cases of hearing loss in children are caused by inheritance of a faulty gene, doctors presently have few tests that help them distinguish one type of hereditary hearing loss from another. Establishing the cause of hearing loss is a critical first step toward identifying the best method to help a hearing-impaired child learn to communicate.

Advance: Scientists supported by NIDCD have identified a mutation in a gene called otoferlin that is believed to cause a form of hearing loss called non-syndromic recessive auditory neuropathy (NSRAN.) Children with NSRAN have hearing loss in both ears but do not have any other nerve problems or other symptoms. Importantly, children with NSRAN cannot benefit from hearing aids but report great benefit from cochlear implants.

Implications: Because doctors are now able to diagnose NSRAN, they can recommend that a child with it be evaluated as a candidate for a cochlear implant rather than a hearing aid. In addition, scientists can now investigate the otoferlin gene’s function in the ear and how its mutation results in hearing loss.