Connexin 26 gene linked to a dominant deafness

Françoise Denoyelle, Genevieve Lina-Granade, Henri Plauchu, Roberto Bruzzone, Hassan Chaïb, Fabienne Lévi-Acobas, Dominique Weil and Christine Petit ()
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Françoise Denoyelle: Unité de Génétique des Déficits Sensoriels, CNRS URA 1968, Institut Pasteur
Genevieve Lina-Granade: Laboratoire de Perception et Mécanismes Auditifs, CNRS UPRESA 5020, Université Claude Bernard Lyon I
Henri Plauchu: Laboratoire de Perception et Mécanismes Auditifs, CNRS UPRESA 5020, Université Claude Bernard Lyon I
Roberto Bruzzone: Unité de Neurovirologie et Régénération du Système Nerveux, Institut Pasteur
Hassan Chaïb: Unité de Génétique des Déficits Sensoriels, CNRS URA 1968, Institut Pasteur
Fabienne Lévi-Acobas: Unité de Génétique des Déficits Sensoriels, CNRS URA 1968, Institut Pasteur
Dominique Weil: Unité de Génétique des Déficits Sensoriels, CNRS URA 1968, Institut Pasteur
Christine Petit: Unité de Génétique des Déficits Sensoriels, CNRS URA 1968, Institut Pasteur

Nature, 1998, vol. 393, issue 6683, 319-320

Abstract: 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.

Date: 1998
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DOI: 10.1038/30639

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