title: Audiometric evaluation of carriers of the connexin 26 mutation 35delG.
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.
authors.affiliation: Unit of Audiology, Department of Neuroscience and Behavioral Sciences, University Federico II, Naples, Italy.
authors.forename: Annamaria
authors.initials: A
authors.lastname: Franzé
authors.forename: Antonella
authors.initials: A
authors.lastname: Caravelli
authors.forename: Francesca
authors.initials: F
authors.lastname: Di Leva
authors.forename: Elio
authors.initials: E
authors.lastname: Marciano
authors.forename: Gennaro
authors.initials: G
authors.lastname: Auletta
authors.forename: Federica
authors.initials: F
authors.lastname: D'Aulos
authors.forename: Claudio
authors.initials: C
authors.lastname: Saulino
authors.forename: Laura
authors.initials: L
authors.lastname: Esposito
authors.forename: Massimo
authors.initials: M
authors.lastname: Carella
authors.forename: Paolo
authors.initials: P
authors.lastname: Gasparini
mesh_terms: D000328:Adult; D001299:Audiometry / Q000379:methods; D001309:Auditory Threshold; D000072259:Connexin 26; D017630:Connexins / Q000235:genetics*; D003638:Deafness / Q000235:genetics; D005260:Female; D005838:Genotype; D006309:Hearing / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D010641:Phenotype; D017354:Point Mutation; D012720:Severity of Illness Index
chemical_list: D017630:Connexins; C000607042:GJB2 protein, human; D000072259:Connexin 26