Connexin26 und -30 im Innenohr und ihre klinische Bedeutung
| Autor: | E Winterhager, H D Gabriel, Klaus Jahnke, J. Lautermann, P Kupsch |
|---|---|
| Rok vydání: | 2001 |
| Předmět: |
Pathology
medicine.medical_specialty Mutation Hearing loss Connexin Biology Bioinformatics medicine.disease_cause medicine.anatomical_structure Otorhinolaryngology Polymorphism (computer science) otorhinolaryngologic diseases medicine Immunohistochemistry Clinical significance Inner ear medicine.symptom Cochlea |
| Zdroj: | Laryngo-Rhino-Otologie. 80:719-724 |
| ISSN: | 1438-8685 0935-8943 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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