Hearing loss associated with 35delG mutation in Connexin-26 (GJB2) gene: audiogram analysis.
35delG is the most common mutation in the Connexin-26 gene, representing a major cause of autosomal recessive hearing loss. The aim of this study was to evaluate the relationship between the audiological phenotype and the 35delG mutation in 64 Sicilians with non-syndromic deafness. Pure-tone audiometry and a screening for 35delG mutation were performed. Audiograms were evaluated according to the classification of Liu and Xu. Thirteen homozygotes and nine heterozygotes for the investigated mutation were found. Symmetrical hearing loss was significantly (p=0.008) more common in homozygous subjects than in those without the Connexin-26 mutation. Profound-severe hypoacusia was found in 92.3 per cent of 35delG homozygous, 22.3 per cent of heterozygous and 58.7 per cent of 35delG absent patients. Residual shape audiograms were more frequent in homozygotes. A molecular analysis for the 35delG mutation should be performed in cases of symmetric, severe-profound congenital hearing loss, as a genetic cause is probable in such cases.
Area of Otolaryngology, University Campus Bio-Medico, Rome, Italy.
Fabrizio
F
Salvinelli
Manuele
M
Casale
Luca
L
D'Ascanio
Luca
L
Firrisi
Fabio
F
Greco
Alfonso
A
Baldi
D000293:Adolescent; D000328:Adult; D001301:Audiometry, Pure-Tone / Q000379:methods; D002648:Child; D002675:Child, Preschool; D000072259:Connexin 26; D017630:Connexins / Q000235:genetics*; D005260:Female; D017353:Gene Deletion; D006319:Hearing Loss, Sensorineural / Q000151:congenital / Q000235:genetics*; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D008297:Male; D010641:Phenotype; D012720:Severity of Illness Index
D017630:Connexins; C000607042:GJB2 protein, human; D000072259:Connexin 26