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Connexin 26 gene linked to a dominant deafness

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Abstract

A high proportion of all cases of congenital deafness is causedby mutations in a gene coding for a gap-junction protein,connexin 26. The deafness associated with this gene, Cx26, is the autosomal recessive form, DFNB1(refs 1–3); its involvement in autosomal dominant forms of deafness has remained controversial4. Here we show that a mutation in Cx26 underlies the dominant form of deafness, DFNA3.

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Figure 1: Sequence analysis of the Cx26 coding exon in an affected individual, showing the G-to-C transversion at codon position 44.

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Authors and Affiliations

  1. Unité de Génétique des Déficits Sensoriels, CNRS URA 1968, Institut Pasteur, 25 rue du Dr Roux, 75724, Paris, cedex 15, France

    Françoise Denoyelle

  2. Service d'ORL, Hôpital d'Enfants Armand-Trousseau, 75571, Paris, cedex 12, France

    Françoise Denoyelle

  3. Laboratoire de Perception et Mécanismes Auditifs, CNRS UPRESA 5020, Université Claude Bernard Lyon I, France

    Genevieve Lina-Granade & Henri Plauchu

  4. Département d'ORL, Hôpital Edouard Herriot, Lyon, cedex 03 69437, France

    Genevieve Lina-Granade & Henri Plauchu

  5. Unité de Neurovirologie et Régénération du Système Nerveux, Institut Pasteur, 25 rue du Dr Roux, 75724, Paris, cedex 15, France

    Roberto Bruzzone

  6. Unité de Génétique des Déficits Sensoriels, CNRS URA 1968, Institut Pasteur, 25 rue du Dr Roux, 75724, Paris, cedex 15, France

    Hassan Chaïb, Fabienne Lévi-Acobas, Dominique Weil & Christine Petit

Authors
  1. Françoise Denoyelle
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  2. Genevieve Lina-Granade
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  3. Henri Plauchu
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  4. Roberto Bruzzone
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  5. Hassan Chaïb
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  6. Fabienne Lévi-Acobas
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  7. Dominique Weil
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  8. Christine Petit
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Denoyelle, F., Lina-Granade, G., Plauchu, H. et al. Connexin 26 gene linked to a dominant deafness. Nature 393, 319–320 (1998). https://doi.org/10.1038/30639

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