Linked Life Data

14676472

Source:http://linkedlifedata.com/resource/pubmed/id/14676472

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pubmed-article:14676472pubmed:abstractTextA 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.lld:pubmed
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pubmed-article:14676472pubmed:copyrightInfoCopyright 2004 S. Karger AG, Basellld:pubmed
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pubmed-article:14676472pubmed:articleTitleA novel mutation identified in the DFNA5 gene in a Dutch family: a clinical and genetic evaluation.lld:pubmed
pubmed-article:14676472pubmed:affiliationDepartment of Otorhinolaryngology, University Medical Centre Nijmegen, Nijmegen, The Netherlands. a.bischoff@kno.umcn.nllld:pubmed
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