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Actin Mutations and Deafness

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Cytoskeleton and Human Disease

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Abstract

Hearing loss comprises a group of disorders with great social implications. During the past decade, tremendous progress has been made in the investigation of hereditary hearing impairment, especially in the nonsyndromic forms, in which the hearing deficit is not accompanied by other clinical signs. These isolated conditions are the most frequent traits and are characterized by a vast genetic and clinical heterogeneity. Among them, those inherited following an autosomal dominant pattern (ADNSHL) represents around 10–20% of hereditary cases for which more than 50 loci (DFNA) have been mapped so far. One of these subtypes, DFNA20/A26, has been reported to be associated with ACTG1, the gene encoding γ-actin.

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Authors and Affiliations

  1. Institute of Health Research (IRYCIS) and Biomedical Network Research Centre on Rare Diseases (CIBERER), Unidad de Genética Molecular, Hospital Ramón y Cajal, Ctra. Colmenar Km 9, 28034, Madrid, Spain

    Matías Morín, Fernando Mayo, Felipe Moreno & Miguel A. Moreno-Pelayo

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  1. Matías Morín
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  2. Fernando Mayo
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  3. Felipe Moreno
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  4. Miguel A. Moreno-Pelayo
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Correspondence to Miguel A. Moreno-Pelayo .

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  1. Australia for Medical Research, Iron Metabolism Program, Children's Cancer Institute, Randwick, New South Wales, Australia

    Maria Kavallaris

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Morín, M., Mayo, F., Moreno, F., Moreno-Pelayo, M.A. (2012). Actin Mutations and Deafness. In: Kavallaris, M. (eds) Cytoskeleton and Human Disease. Humana Press, Totowa, NJ. https://doi.org/10.1007/978-1-61779-788-0_9

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