| Autor: |
Fransen, Erik, Verstreken, Margriet, Verhagen, Wim I. M., Wuyts, Floris L., Huygen, Patrick L. M., D'Haese, Patrick, Robertson, Nahid G., Morton, Cynthia C., McGuirt, Wyman T., Smith, Richard J. H., Declau, Frank, Heyning, Paul H. Van de, Camp, Guy Van |
| Zdroj: |
Human Molecular Genetics; Aug99, Vol. 8 Issue 8, p1425, 5p, 1 Diagram |
| Abstrakt: |
We report the genetic analysis of one large Belgian and two small Dutch families with autosomal dominant non-syndromic progressive sensorineural hearing loss associated with vestibular dysfunction. Linkage studies in the Belgian family mapped the disease to the DFNA9 locus on chromosome 14. Mutation analysis of the COCH gene, which is responsible for DFNA9, revealed a missense mutation changing a highly conserved residue. One of the patients, who had an earlier age of onset in comparison with most of the affected family members, was shown to be homozygous for the mutation. After the mutation was found in the Belgian family, we discovered that the same missense mutation was also present in two Dutch families with similar cochleo-vestibular symptoms. In all three families with hearing loss and imbalance problems, > 25% of the patients showed additional symptoms, including episodes of vertigo, tinnitus, aural fullness and hearing loss. Clinically, these symptoms are consistent with the criteria for Menière's disease. The importance of genetic factors in Menière's disease has been suggested on many occasions, but this study is the first report of a mutation in a gene leading to the symptoms of Menière's disease in a significant portion of the carriers. The COCH gene may be one of the genetic factors contributing to Menière's disease and the possibility of a COCH mutation should be considered in patients with Menière's disease symptoms. [ABSTRACT FROM AUTHOR] |
| Databáze: |
Complementary Index |
| Externí odkaz: |
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