Zusammenfassung
Hintergrund: Gap-junction-Kanäle (Nexus) bestehen aus unterschiedlichen Connexin-Proteinen und
spielen im Innenohr eine wichtige Rolle für die Physiologie des Hörens. Connexin26
und Connexin30 wurden in der Cochlea durch Immunhistochemie und Northern-Blot-Analyse
nachgewiesen. Mutationen in den Genen von Connexin26 und Connexin30 wurden als Ursache
nicht-syndromaler erblicher Innenohrschwerhörigkeit beschrieben. Methode: Die Häufigkeit von Mutationen im Connexin26- und Connexin30-Gen wurde durch SSCP-Analyse
und Sequenzierung bei hochgradig schwerhörigen bis tauben Patienten untersucht. Ergebnisse: Bei 134 hochgradig schwerhörigen bis tauben Patienten konnten 30 Connexin26-Mutationen
(22 %) nachgewiesen werden. In 25 Fällen (19 %) wurde die häufigste Connexin26-Mutation
30delG identifiziert, in 5 Fällen seltenere Connexin26-Mutationen. Eine Connexin30-Mutation
konnte bei keinem Patienten nachgewiesen werden. Schlussfolgerung: Somit haben Connexin26-Mutationen auch in Deutschland eine große Bedeutung bei nicht-syndromaler
Innenohrschwerhörigkeit und sollten bei Patienten mit Verdacht auf hereditäre Schwerhörigkeit
ausgeschlossen werden.
Connexin26 and -30 in the Cochlea and their Clinical Relevance
Introduction: Gap junction channels consist of different connexin proteins and play an important
role in the physiology of hearing. Connexin26 and connexin30 have been demonstrated
in the inner ear by immunohistochemistry and Northern Blot analysis. Mutations in
the genes for connexin26 and connexin30 have been described to be responsible for
non-syndromic hearing loss. Methods: We investigated the prevalence of connexin26 and connexin30 mutations in patients
with profound hearing loss or deafness by SSCP-analysis and sequencing. Results: 30 connexin26 mutations (22 %) were detected among 134 patients with profound hearing
loss or deafness. The most frequent connexin26 mutation 30delG was found in 25 patients.
In 5 patients other connexin26 mutations were identified. No connexin30 mutation was
found. Conclusion: Therefore connexin26 mutations also play an important role for non-syndromic hearing
loss in Germany. We propose that every patient with suspected hereditary hearing loss
should be screened for a connexin26 mutation.
Schlüsselwörter:
Connexine - Gap-junctions - Hörverlust
Key words:
Connexins - Gap junctions - Hearing loss
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Priv.-Doz. Dr. J. Lautermann
Universitäts-Hals-, Nasen-, Ohrenklinik Essen
Hufelandstraße 55
45122 Essen
