Audiometric evaluation of carriers of the connexin 26 mutation 35delG

• Published in: European archives of oto-rhino-laryngology Vol. 262; no. 11; pp. 921 - 924
• Main Authors: FRANZE, Annamaria, CARAVELLI, Antonella, DI LEVA, Francesca, MARCIANO, Elio, AULETTA, Gennaro, D'AULOS, Federica, SAULINO, Claudio, ESPOSITO, Laura, CARELLA, Massimo, GASPARINI, Paolo
• Format: Journal Article
• Language: English
• Published: Berlin Springer 01-11-2005
• Subjects: Adult; Audiometry - methods; Auditory Threshold; Biological and medical sciences; Connexin 26; Connexins - genetics; Deafness - genetics; Ear, auditive nerve, cochleovestibular tract, facial nerve: diseases, semeiology; Female; Genotype; Hearing - genetics; Heterozygote; Humans; Male; Medical sciences; Middle Aged; Non tumoral diseases; Otorhinolaryngology. Stomatology; Phenotype; Point Mutation; Severity of Illness Index; Human; Evaluation; Audiometry; Auditory disorder; Exploration; Heterozygosity; Genetic disease; Hearing loss; Connexin; Heterozygotes, Recessive deafness, Connexin 26; Audiometric test ,Obligate carriers; ENT disease; Recessive character; Mutation
• ISSN: 0937-4477; 1434-4726
• DOI: 10.1007/s00405-005-0918-1

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.