Genetics of Nonsyndromic Congenital Hearing LossReportar como inadecuado

Genetics of Nonsyndromic Congenital Hearing Loss - Descarga este documento en PDF. Documentación en PDF para descargar gratis. Disponible también para leer online.

Scientifica - Volume 2016 2016, Article ID 7576064, 9 pages -

Review ArticleDepartment of Otorhinolaryngology, Faculty of Medicine, Istanbul Medeniyet University, 34722 Istanbul, Turkey

Received 14 December 2015; Accepted 19 January 2016

Academic Editor: Zhijun Duan

Copyright © 2016 Oguz Kadir Egilmez and M. Tayyar Kalcioglu. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.


Congenital hearing impairment affects nearly 1 in every 1000 live births and is the most frequent birth defect in developed societies. Hereditary types of hearing loss account for more than 50% of all congenital sensorineural hearing loss cases and are caused by genetic mutations. HL can be either nonsyndromic, which is restricted to the inner ear, or syndromic, a part of multiple anomalies affecting the body. Nonsyndromic HL can be categorised by mode of inheritance, such as autosomal dominant called DFNA, autosomal recessive DFNB, mitochondrial, and X-linked DFN. To date, 125 deafness loci have been reported in the literature: 58 DFNA loci, 63 DFNB loci, and 4 X-linked loci. Mutations in genes that control the adhesion of hair cells, intracellular transport, neurotransmitter release, ionic hemeostasis, and cytoskeleton of hair cells can lead to malfunctions of the cochlea and inner ear. In recent years, with the increase in studies about genes involved in congenital hearing loss, genetic counselling and treatment options have emerged and increased in availability. This paper presents an overview of the currently known genes associated with nonsyndromic congenital hearing loss and mutations in the inner ear.

Autor: Oguz Kadir Egilmez and M. Tayyar Kalcioglu



Documentos relacionados