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Mutation analysis of GJB2 and GJB6 genes in Southeastern Brazilians with hereditary nonsyndromic deafness

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Abstract

In developed countries deafness has a genetic cause in over 60% of the cases. Contrastingly, in Brazil, it is estimated that only 16% of all deafnesses are caused by genetic factors. Among hereditary hearing deficiencies, approximately half is caused by mutations in the Gap Junction Protein Beta-2 (GJB2) gene, which encodes the protein Connexin 26 (Cx26). There are four mutations in this gene that present high prevalence in specific ethnical groups, namely, 35delG, 167delT, 235delC, and W24X. The 35delG mutation is the most frequent one, occurring in homozygosity or in compound heterozygosity with mutations in the GJB2 and GJB6 genes. This study aims to determine the prevalence of GJB2-35delG, GJB2-167delT, GJB2-235delC, GJB2-W24X, del (GJB6-D13S1830), and del (GJB6-D13S1854) mutations in patients with nonsyndromic deafness in the Espirito Santo State, Brazil. A total of 77 individuals were evaluated, from which 88.3% presented normal genotypes for all analyzed mutations, 1.3% were compound heterozygotes for 35delG-GJB2/D13S1830-GJB6, 1.3% were compound heterozygotes for 35delG/D13S1854-GJB6, 3.9% were homozygotes for the 35delG mutation and 5.2% were heterozygotes for 35delG/GJB2. The frequency of mutant alleles 35delG/GJB2, del (D13S1830/GJB6), and del (D13S1854/GJB6) was 7.8, 0.65, and 0.65%, respectively. Mutations 167delT, 235delC, and W24X were not detected. Determining the prevalence of specific mutations related to inherited deafness in a population can contribute to the development of more efficient and affordable molecular diagnostic protocols, and help in the genetic counseling of patients and their families.

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Acknowledgments

This study was funded by the Fundação de Apoio à Ciência e Tecnologia do Espírito Santo—FAPES.

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Authors and Affiliations

  1. Laboratório de Genética e Biologia Molecular, Faculdades Integradas São Pedro—FAESA, Rodovia Serafim Derenzi, 3115, São Pedro, 29048-450, Vitória, ES, Brazil

    Melissa de Freitas Cordeiro-Silva, Andressa Barbosa, Marília Santiago, Mariana Provetti & Eliete Rabbi-Bortolini

  2. Núcleo de Genética Humana e Molecular, Departamento de Ciências Biológicas, Centro de Ciências Humanas e Naturais, Universidade Federal do Espírito Santo, Av. Marechal Campos, 1468-Campus de Maruípe, 29040-090, Vitória, ES, Brazil

    Raquel Spinassé Dettogni, Thais Tristão Tovar & Iúri Drumond Louro

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  1. Melissa de Freitas Cordeiro-Silva
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  2. Andressa Barbosa
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  8. Iúri Drumond Louro
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Correspondence to Iúri Drumond Louro.

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de Freitas Cordeiro-Silva, M., Barbosa, A., Santiago, M. et al. Mutation analysis of GJB2 and GJB6 genes in Southeastern Brazilians with hereditary nonsyndromic deafness. Mol Biol Rep 38, 1309–1313 (2011). https://doi.org/10.1007/s11033-010-0231-y

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  • DOI: https://doi.org/10.1007/s11033-010-0231-y

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