A Novel Mutation Identified in the DFNA5 Gene in a Dutch Family: A Clinical and Genetic Evaluation
| Autor: | Patrick L. M. Huygen, G. van Duijnhoven, Hubertus P. H. Kremer, Mirjam W. J. Luijendijk, Grétel Oudesluijs, F.P.M. Cremers, Anne M. L. C. Bischoff, E.M.R. De Leenheer, C.W.R.J. Cremers, L. Van Laer |
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| Rok vydání: | 2003 |
| Předmět: | |
| Zdroj: | Audiology and Neurotology. 9:34-46 |
| ISSN: | 1421-9700 1420-3030 |
| DOI: | 10.1159/000074185 |
| Popis: | A novel DFNA5 mutation was found in a Dutch family, of which 37 members were examined. A nucleotide substitution was identified in the splice acceptor site of intron 7, leading to skipping of exon 8 in part of the transcripts. The mutation was found in 18 individuals. Sensorineural hearing impairment was non-syndromic and symmetric. In early life, presumably congenitally, hearing impairment amounted to 30 dB in the high frequencies. Progression was most pronounced at 1 kHz (1.8 dB/year). Speech recognition was relatively good with a phoneme score of about 50% at the age of 70. Onset age was 37 years, and recognition deteriorated by 1.3% per year. The recognition score deteriorated by 1.0% per decibel threshold increase from a mean pure-tone average (PTA at 1, 2 and 4 kHz) of 63 dB onwards. Vestibular function was generally normal. The second mutation identified in the DFNA5 gene results in hearing impairment, similar to that in the original DFNA5 family in terms of pure-tone thresholds, but with more favourable speech recognition. |
| Databáze: | OpenAIRE |
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