Audiometric evaluation of carriers of the connexin 26 mutation 35delG

Annamaria Franzé, Antonella Caravelli, Francesca Di Leva, Elio Marciano, Gennaro Auletta, Federica D'Aulos, Claudio Saulino, Laura Esposito, Massimo Carella, Paolo Gasparini

Research output: Contribution to journalArticlepeer-review

Abstract

Mutation in a gap junction protein gene (GJB2 also named connexin 26) is a major cause of autosomal recessive congenital deafness, which is responsible for about 80% of the cases in Mediterranean families, but actually little is known about the influence of GJB2 mutations on the hearing of obligate carriers. We examined GJB2 35delG mutation carrier individuals to test the possible presence and incidence of audiometric abnormalities among carriers of 35delG mutations. Tonal audiometric analysis was performed on a 35delG mutation carrier group (H) and on a non-carrier control group (N). Audiometric evaluations in the control group showed the presence of thresholds within normal limits at all frequencies, while carriers of 35delG mutations presented a decrease of hearing principally at 6,000 and 8,000 Hz. The difference at 6,000 and 8,000 Hz between groups H and N is statistically significant.

Original languageEnglish
Pages (from-to)921-924
Number of pages4
JournalEuropean Archives of Oto-Rhino-Laryngology
Volume262
Issue number11
DOIs
Publication statusPublished - Nov 2005

Keywords

  • Audiometric test
  • Connexin 26
  • Heterozygotes
  • Obligate carriers
  • Recessive deafness

ASJC Scopus subject areas

  • Otorhinolaryngology

Fingerprint

Dive into the research topics of 'Audiometric evaluation of carriers of the connexin 26 mutation 35delG'. Together they form a unique fingerprint.

Cite this