KCNQ4

Several KCNQ4 gene mutations have been reported in individuals with nonsyndromic hearing loss, which is loss of hearing that is not associated with other signs and symptoms. Mutations in this gene cause a form of nonsyndromic hearing loss called DFNA2. This form of hearing loss generally begins after a child learns to speak (postlingual) and particularly affects the ability to hear high-frequency sounds. DFNA2 is described as progressive, which means it becomes more severe over time.

Most KCNQ4 gene mutations change one of the building blocks (amino acids) used to make the KCNQ4 protein. Some mutations prevent the channel from reaching the cell membrane, where it is needed to transport potassium ions. Other mutations lead to the formation of abnormal channels that cannot transport these ions effectively. The loss of functional KCNQ4 channels appears to cause a buildup of potassium ions in certain cells of the inner ear, which damages those cells and leads to progressive hearing loss in people with DFNA2.

MedlinePlus Genetics provides information about Age-related hearing loss