DFNB59

The DFNB59 gene provides instructions for making a protein called pejvakin. This protein is present in the nerves leading from the inner ear to the brain (auditory nerves). It is also found in the part of the brain that is connected to the spinal cord (the brainstem). Although the exact function of pejvakin is uncertain, it appears to be essential for normal hearing. Hearing requires the conversion of sound waves to nerve impulses that are transmitted via the auditory nerves to the brain. Researchers believe that pejvakin may play a role in the transmission of nerve impulses that register sound.

nonsyndromic deafness - caused by mutations in the DFNB59 gene

Researchers have identified at least two DFNB59 mutations that cause a form of nonsyndromic deafness (hearing loss without related signs and symptoms affecting other parts of the body) called DFNB59. People with these mutations have a type of hearing loss called auditory neuropathy, which occurs when sound is not transmitted properly from the inner ear to the brain.

The DFNB59 mutations replace one of the protein building blocks (amino acids) used to make pejvakin with an incorrect amino acid. It is unclear how these mutations lead to hearing loss. Research suggests that an altered pejvakin protein prevents the normal transmission of nerve impulses from the inner ear to the brain.