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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

Etiologic diagnosis of sensorineural hearing loss in adults.

OBJECTIVE: To determine the etiology of adult-onset sensorineural hearing loss. STUDY DESIGN AND SETTING: This is a prospective cohort study of 60 adult subjects with bilateral sensorineural hearing loss of no obvious etiology by medical history and physical examination. These patients were evaluated at an academic medical center and underwent evaluation by high-resolution computed tomography of the temporal bone, autoimmune panel, and DNA testing for mutations of both the GJB2 gene and the mitochondrial DNA (1555A>G and 7445A>G). RESULTS: An etiologic diagnosis was achieved in 6 patients: cochlear otosclerosis, 1 case; dilated vestibular aqueduct, 1 case; a mitochondrial DNA 7445A>G mutation, 3 cases; and a mitochondrial DNA 1555A>G mutation, 1 case. CONCLUSION: This result underscores the importance of a search for the etiology of a hearing deficit in adult patients. There are specific interventions now available for the management of hearing-impaired patients with cochlear otosclerosis and mitochondrial DNA mutations.[1]


  1. Etiologic diagnosis of sensorineural hearing loss in adults. Angeli, S.I., Yan, D., Telischi, F., Balkany, T.J., Ouyang, X.M., Du, L.L., Eshraghi, A., Goodwin, L., Liu, X.Z. Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck Surgery. (2005) [Pubmed]
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