Audiometric evaluation of carriers of the connexin 26 mutation 35delG.
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.
Franzé
Annamaria
A
Unit of Audiology, Department of Neuroscience and Behavioral Sciences, University Federico II, Naples, Italy.
Caravelli
Antonella
A
Di Leva
Francesca
F
Marciano
Elio
E
Auletta
Gennaro
G
D'Aulos
Federica
F
Saulino
Claudio
C
Esposito
Laura
L
Carella
Massimo
M
Gasparini
Paolo
P
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
D017630:Connexins; C000607042:GJB2 protein, human; D000072259:Connexin 26