Value of genetic testing in the otological approac... [Keio J Med. 2009] - PubMed result

Keio J Med. 2009 Dec;58(4):216-22.

Value of genetic testing in the otological approach for sensorineural hearing loss.
Matsunaga T.

Department of Otolaryngology, Laboratory of Auditory Disorders, National Institute of Sensory Organs, National Tokyo Medical Center, 2-5-1 Higashigaoka, Meguro, Tokyo, Japan. matsunagatatsuo@kankakuki.go.jp

Sensorineural hearing loss (SNHL) is one of the most common disabilities in human, and genetics is an important aspect for SNHL, especially in children. In recent 10 years, our knowledge in genetic causes of SNHL has made a significant advance, and now it is used for diagnosis and other clinical practices. Hereditary hearing loss can be classified into syndromic and nonsyndromic hearing loss. As the nonsyndromic deafness genes, more than 100 loci for deafness genes have been determined, and more than 40 genes were identified. Furthermore, more than 300 forms of syndromic hearing loss have been characterized, and each syndrome may have several causative genes. In childhood hearing loss, early educational intervention is required in addition to medical intervention for normal development of speech and language. In addition, even severe to profound hearing loss may be restored very effectively by hearing aids or cochlear implants. Because of these features of SNHL, genetic testing has exceptionally high value in the medical practice for hereditary hearing loss. Several strategies are used for genetic testing of SNHL for accurate and efficient identification of the genetic causes, and the results were used for explanation of the cause, prediction of auditory features, prevention of deafness, management of associated symptoms, determination of therapy, and genetic counseling. Identification of damaged cells in the inner ear and the underlying mechanism by genetic testing undoubtedly facilitates development and introduction of novel and specific therapies to distinct types of SNHL.

PMID: 20037285 [PubMed - in process]

abrir aquí para acceder al documento NCBI NIH y otros relacionados:
Value of genetic testing in the otological approac... [Keio J Med. 2009] - PubMed result