Back to Search Start Over

Hearing loss features in GJB2 biallelic mutations and GJB2/GJB6 digenic inheritance in a large Italian cohort.

Authors :
Cama E
Melchionda S
Palladino T
Carella M
Santarelli R
Genovese E
Benettazzo F
Zelante L
Arslan E
Source :
International journal of audiology [Int J Audiol] 2009 Jan; Vol. 48 (1), pp. 12-7.
Publication Year :
2009

Abstract

The aim of this study was to describe the clinical features of hearing loss due to mutations on connexin 26/30 coding genes (GJB2/GJB6). Mutations in the GJB2 gene are found to account for approximately 50% of cases of autosomal recessive non-syndromic deafness. Several European studies have estimated that the GJB2 healthy carrier condition involves about 2-4% of the population, with the 35delG mutations being the most common. A 342-kb deletion truncating the GJB6 gene (encoding connexin-30) has been associated with autosomal recessive non-syndromic deafness, mostly as digenic inheritance of the Cx30 deletion/Cx26 mutation. The following retrospective study describes audiological features and genotypes of a large cohort of 376 Italian hearing-impaired patients who underwent genetic screening for the GJB2/GJB6 genes and received follow-up care at our centre between January 2002 and October 2006. Sixteen different genotypes causing deafness in more than 27% of patients with either biallelic mutations or digenic inheritance GJB2/GJB6 were identified. The most frequent mutations were 35delG, M34T, L90P, and R184P.

Details

Language :
English
ISSN :
1708-8186
Volume :
48
Issue :
1
Database :
MEDLINE
Journal :
International journal of audiology
Publication Type :
Academic Journal
Accession number :
19173109
Full Text :
https://doi.org/10.1080/14992020802400654