Hereditary hearing loss in humans: the importance of genetic approaches for clinical medicine and basic science
Tóm tắt
Hereditary hearing loss is one of the most common monogenic diseases in humans and, depending on the severity of symptoms and age of onset, dysfunction of one of the main sensory systems can cause significant 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 in recent years by genetic approaches. In addition to improved counselling and medical management of patients and families, these research findings have contributed significantly to the identification of functionally relevant molecules of the inner ear and have thus helped us to better understand the molecular physiology of hearing and the pathophysiology of hearing impairment.
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