Genetic sensorineural hearing loss: up to date

DALAMON V; ELGOYHEN AB

Rev. Med. Clin. Condes

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Lugar: Santiago de Chile; Año: 2009 vol. 20 p. 408 - 417

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Sensorineural hearing loss is the most prevalent sensorydisorder in developed countries. Approximately 50% ofautosomal recessive non-syndromic deafness is caused bymutations in the GJB2 and GJB6 genes. To date the genesresponsible for more than forty non-syndromic hearingimpairments and over 140 loci involved in different forms ofhearing loss have been identified. The correct diagnose ofthe specific cause of hearing loss in an individual can provideinformation concerning prognosis and is essential for theaccurate genetic counseling. The following is usually required:a three-generation family history, a clinical examinationlooking for features associated with syndromic deafnessand an audiometric analysis to identify “candidate genes” toanalyze. In this paper, we review the most common causes ofhearing loss, the current genetic studies and new promisingcellular therapies.