Is hearing loss due to mutations in the Connexin 26 gene progressive?

Deepika Gopalarao, William J. Kimberling, Walt Jesteadt, Philip M. Kelley, Kathryn L. Beauchaine, Edward S. Cohn

Research output: Contribution to journalArticle

17 Citations (Scopus)

Abstract

Serial audiograms were analysed for seven subjects, who were homozygous for the 35delG GJB2 mutation. The criterion for determining progression of hearing loss was at least a 1-dB loss in air conduction pure-tone average-3 (ACPTA-3) or ACPTA-4 per year for 2 to 10 years, with a minimum change of 10 dB ACPTA 3 or 4. Bilateral progression of hearing loss was found in 43% (3/7) of the subjects. A meta-analysis of seven studies with non-overlapping data sets and similar ascertainment criteria indicated that 19% of DFNB1 subjects with GJB2 mutations have progressive hearing loss. These data suggest that it may be incorrect to assume that congenital hearing loss due to this mutation is stable. We recommend rigorous audiologic surveillance for individuals with DFNB1.

Original languageEnglish (US)
Pages (from-to)11-20
Number of pages10
JournalInternational Journal of Audiology
Volume47
Issue number1
DOIs
StatePublished - Jan 1 2008

Fingerprint

Hearing Loss
Mutation
Bilateral Hearing Loss
Genes
Meta-Analysis
surveillance
Air
air
Connexin 26
Gene
Hearing Impairment
Progression

Keywords

  • 35delG
  • DFNB1
  • GJB2
  • Non-syndromic recessive hearing loss
  • Progression of hearing loss

ASJC Scopus subject areas

  • Otorhinolaryngology

Cite this

Gopalarao, D., Kimberling, W. J., Jesteadt, W., Kelley, P. M., Beauchaine, K. L., & Cohn, E. S. (2008). Is hearing loss due to mutations in the Connexin 26 gene progressive? International Journal of Audiology, 47(1), 11-20. https://doi.org/10.1080/14992020701602087

Is hearing loss due to mutations in the Connexin 26 gene progressive? / Gopalarao, Deepika; Kimberling, William J.; Jesteadt, Walt; Kelley, Philip M.; Beauchaine, Kathryn L.; Cohn, Edward S.

In: International Journal of Audiology, Vol. 47, No. 1, 01.01.2008, p. 11-20.

Research output: Contribution to journalArticle

Gopalarao, D, Kimberling, WJ, Jesteadt, W, Kelley, PM, Beauchaine, KL & Cohn, ES 2008, 'Is hearing loss due to mutations in the Connexin 26 gene progressive?', International Journal of Audiology, vol. 47, no. 1, pp. 11-20. https://doi.org/10.1080/14992020701602087
Gopalarao, Deepika ; Kimberling, William J. ; Jesteadt, Walt ; Kelley, Philip M. ; Beauchaine, Kathryn L. ; Cohn, Edward S. / Is hearing loss due to mutations in the Connexin 26 gene progressive?. In: International Journal of Audiology. 2008 ; Vol. 47, No. 1. pp. 11-20.
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