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.

Hearing loss features in GJB2 biallelic mutations and GJB2/GJB6 digenic inheritance in a large Italian cohort / Elona, Cama; Salvatore, Melchionda; Teresa, Palladino; Massimo, Carella; Rosamaria, Santarelli; Genovese, Elisabetta; Filippo, Benettazzo; Leopoldo, Zelante; Edoardo, Arslan. - In: INTERNATIONAL JOURNAL OF AUDIOLOGY. - ISSN 1499-2027. - STAMPA. - 48:1(2009), pp. 12-17. [10.1080/14992020802400654]

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

GENOVESE, Elisabetta;
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.
2009
48
1
12
17
Hearing loss features in GJB2 biallelic mutations and GJB2/GJB6 digenic inheritance in a large Italian cohort / Elona, Cama; Salvatore, Melchionda; Teresa, Palladino; Massimo, Carella; Rosamaria, Santarelli; Genovese, Elisabetta; Filippo, Benettazzo; Leopoldo, Zelante; Edoardo, Arslan. - In: INTERNATIONAL JOURNAL OF AUDIOLOGY. - ISSN 1499-2027. - STAMPA. - 48:1(2009), pp. 12-17. [10.1080/14992020802400654]
Elona, Cama; Salvatore, Melchionda; Teresa, Palladino; Massimo, Carella; Rosamaria, Santarelli; Genovese, Elisabetta; Filippo, Benettazzo; Leopoldo, Z...espandi
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11380/597624
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