[Connexin26 and -30 in the Cochlea and their clinical relevance]. / Connexin26 und -30 im Innenohr und ihre klinische Bedeutung.
Laryngorhinootologie
; 80(12): 719-24, 2001 Dec.
Article
em De
| MEDLINE
| ID: mdl-11793268
ABSTRACT
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.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Conexinas
/
Surdez
/
Orelha Interna
/
Mutação
Tipo de estudo:
Risk_factors_studies
Limite:
Adolescent
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Adult
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Animals
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Child
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Child, preschool
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Female
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Humans
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Male
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Pregnancy
Idioma:
De
Revista:
Laryngorhinootologie
Assunto da revista:
OTORRINOLARINGOLOGIA
Ano de publicação:
2001
Tipo de documento:
Article
País de afiliação:
Alemanha