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Hearing loss associated with 35delG mutation in Connexin-26 (GJB2) gene: audiogram analysis

Published online by Cambridge University Press:  08 March 2006

Fabrizio Salvinelli
Affiliation:
Area of Otolaryngology, University Campus Bio-Medico, Rome,Italy.
Manuele Casale
Affiliation:
Area of Otolaryngology, University Campus Bio-Medico, Rome,Italy.
Luca D’Ascanio
Affiliation:
Area of Otolaryngology, University Campus Bio-Medico, Rome,Italy.
Luca Firrisi
Affiliation:
Area of Otolaryngology, University Campus Bio-Medico, Rome,Italy.
Fabio Greco
Affiliation:
Area of Otolaryngology, University Campus Bio-Medico, Rome,Italy.
Alfonso Baldi
Affiliation:
Department of Biochemistry and Biophysic, “F. Cedrangolo”, Section of Anatomic Pathology, Second University of Naples, Naples,Italy.

Abstract

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.

Type
Research Article
Copyright
© Royal Society of Medicine Press Limited 2004

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