Hereditary hearing loss in humans - the importance of genetic approaches for clinical medicine and basic science

Hereditary hearing loss belongs to the most common monogenic diseases in humans and, depending on the severity of symptoms and age of onset, the dysfunction of one of the main sensory systems can lead to major problems for the affected individual and his/her social environment. The diagnostic workup of hearing impairment is complicated by a pronounced phenotypic variability and extensive genetic heterogeneity. Nevertheless, many forms of monogenic hearing impairment have been elucidated during the last years by genetic approaches. In addition to improved counseling and medical management of patients and families, these scientific results have contributed significantly to the identification of functionally relevant molecules of the inner ear and have thus helped to better understand the molecular physiology of hearing and pathophysiology of hearing impairment.