Connexin 26 as a Cause of Hereditary Hearing Loss 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 ... Clinical Focus: Grand Rounds
Clinical Focus: Grand Rounds  |   December 01, 1999
Connexin 26 as a Cause of Hereditary Hearing Loss
 
Author Affiliations & Notes
  • Wyman T. McGuirt
    University of Iowa Hospitals and Clinics, Molecular Otolaryngology Research Laboratories, Department of Otolaryngology—Head and Neck Surgery, 200 Hawkins Drive, Iowa City, IA
  • Richard J.H. Smith
    University of Iowa Hospitals and Clinics, Molecular Otolaryngology Research Laboratories, Department of Otolaryngology—Head and Neck Surgery, 200 Hawkins Drive, Iowa City, IA
    MD
  • Corresponding author: e-mail: richard-smith@uiowa.edu
Article Information
Hearing Disorders / Special Populations / Genetic & Congenital Disorders / Clinical Focus / Grand Rounds
Clinical Focus: Grand Rounds   |   December 01, 1999
Connexin 26 as a Cause of Hereditary Hearing Loss
American Journal of Audiology, December 1999, Vol. 8, 93-100. doi:10.1044/1059-0889(1999/016)
History: Received April 6, 1999 , Accepted June 16, 1999
 
American Journal of Audiology, December 1999, Vol. 8, 93-100. doi:10.1044/1059-0889(1999/016)
History: Received April 6, 1999; Accepted June 16, 1999

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.

Acknowledgments
This work was supported in part by National Institutes of Health Otolaryngology Research Training Grant 5-T32-DC00040 (W.T.M.) and Grant RO1-DC02842 (R.J.H.S.).
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