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American Journal of Audiology Vol.8 93-100 December 1999. doi:10.1044/1059-0889(1999/016)
© American Speech-Language-Hearing Association
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Connexin 26 as a Cause of Hereditary Hearing Loss

Wyman T. McGuirt 1 and Richard J.H. Smith 1

1 University of Iowa Hospitals and Clinics, Iowa City

richard-smith{at}uiowa.edu

Connexin 26 (Cx26) is an inner ear protein that forms part of the potassium recycling pathway used to maintain the osmotic balance essential for normal auditory function. Mutations in the GJB2 gene, which encodes for the Cx26 protein, recently have been implicated as the cause of up to 50% of hereditary prelingual severe-to-profound nonsyndromic hearing loss. A single mutation that results in the loss of a guanosine nucleotide at position 35, the 35delG mutation, is involved in approximately 97% of cases of Cx26-related deafness. In persons with prelingual severe-to-profound nonsyndromic hearing loss, genetic testing for Cx26-related deafness can establish a diagnosis and obviate the need for a more expensive evaluation. However, if this type of testing is considered, appropriate genetic counseling must be provided and the nuances and limitations of genetic testing must be understood.

Key Words: hereditary hearing loss, deafness, connexin 26, gap junctions

Submitted on April 6, 1999
Accepted on June 16, 1999




This article has been cited by other articles:


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