Genetic Deafness

GOYCOOLEA M; ELGOYHEN AB; DALAMON V

The Atlas of Otologic Surgery and Magic Otology. The International team approach based on pathogenesis.

© 2011 - Jaypee Brothers Medical Publishers (P) Ltd

Lugar: New Delhi, India; Año: 2011; p. 1127 - 1137

Summary Sensorineural hearing loss is the most prevalent sensory disorder in developed countries. Approximately 50% of autosomal recessive non-syndromic deafness is caused by mutations in the GJB2 and GJB6 genes. To date, more than forty genes responsible for non-syndromic hearing impairment and over 140 loci involved in different forms of hearing loss have been identified. The correct diagnose of the specific cause of hearing loss in an individual can provide information concerning its prognosis and is essential for an accurate genetic counseling. In this paper, we review the most common causes of hearing loss, the current genetic studies and new promising cellular therapies.