J Genet Med.
2009 Jun;6(1):8-24.
Genetic Background of Congenital Hearing Loss
- Affiliations
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- 1Department of otorhinolaryngology, Seoul National University College of Medicine, Korea. shaoh@snu.ac.kr
- 2Sensory Organ Research Institute, Seoul National University Medical Research Center, Korea.
- 3Department of otorhinolaryngology, Seoul National University Bundang Hospital, Korea.
Abstract
- Understanding the genetic background of hearing loss is important since almost 50% of the cases of profound hearing loss are caused by genetic factors. Until now, more than 150 causative genes have been identified. In this review, classification of genetic hearing loss (syndromic versus non-syndromic, recessive versus dominant, X-linked and mitochondrial), pitfalls in elucidating causative genes, anatomy of the inner ear, introduction of the most common syndromic hearing loss, introduction of the most common non-syndromic hearing loss-causing genes, mitochondrial and multifactorial hearing losses were discussed. Moreover, clinical approaches to the patients with hereditary hearing loss and genetic counseling were also explained briefly. Finally, future directions of the hereditary hearing loss research in Korean population were presented.
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