ABSTRACT
The identification of genes that contribute to hearing and balance is helping to elucidate the molecular biology of the inner ear. The disease genes causing sensorineural hearing impairment are expressed throughout the whole cochlea. The results of cochlear implantation are excellent in patients with both syndromic and non-syndromic genetic hearing impairment associated with profound hearing loss. Multiple technologies are available to identify the genetic defect underlying a clinically diagnosed hereditary hearing impairment. The pathomechanisms of hearing impairment depend on the mutated gene and, therefore, on the function of the encoded protein in the inner ear. Otogenetics will become more important in daily clinical practice, facilitating the diagnostic process for the hearing impaired patient and making accurate counselling of prognosis possible. The locus on the chromosome that harbours a gene involved in non-syndromic autosomal dominant hearing impairment is specified by the prefix ‘DFNA’.
