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Genetic Diagnosis of Deafness

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The Role of Pendrin in Health and Disease

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Abstract

Genetic testing can provide an accurate diagnosis, contributing to appropriate treatment, prognosis and precise genetic counseling for patients with hearing loss. It is estimated that approximately 300 genes could be involved in determining syndromic and nonsyndromic hearing loss, making the diagnosis of hearing loss highly challenging. Conventional methodologies have been used for the screening of the most frequent mutations and genes according to ethnic background, but they are impractical for the screening of all genes associated with the complex auditory system. The Human Genome Project has directly or indirectly stimulated the development of many technologies and platforms for molecular diagnostics of genetic diseases, including hereditary hearing loss. All these tools are not only applicable to molecular diagnostics, but also enable the identification of new genes, providing new insights into the mechanisms of hearing loss.

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Authors and Affiliations

  1. Human Molecular Genetics Laboratory, Molecular Biology and Genetic Engineering Center (CBMEG), University of Campinas (UNICAMP), Edi Lúcia Sartorato 400, Candido Rondon Avenue, Campinas, São Paulo, Brazil

    Sueli Matilde da Silva Costa, Priscila Zonzini Ramos, Fábio Tadeu Arrojo Martins & Edi Lúcia Sartorato

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  1. Sueli Matilde da Silva Costa
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  2. Priscila Zonzini Ramos
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  3. Fábio Tadeu Arrojo Martins
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  4. Edi Lúcia Sartorato
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Correspondence to Edi Lúcia Sartorato .

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Editors and Affiliations

  1. Paracelsus Medical University Institute of Pharmacology and Toxicology, Salzburg, Austria

    Silvia Dossena

  2. Paracelsus Medical University Institut of Pharmacology and Toxicology, Salzburg, Austria

    Markus Paulmichl

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da Silva Costa, S.M., Ramos, P.Z., Martins, F.T.A., Sartorato, E.L. (2017). Genetic Diagnosis of Deafness. In: Dossena, S., Paulmichl, M. (eds) The Role of Pendrin in Health and Disease. Springer, Cham. https://doi.org/10.1007/978-3-319-43287-8_5

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