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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
1
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pubmed:dateCreated |
2003-12-16
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pubmed:abstractText |
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.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:issn |
1420-3030
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pubmed:author |
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pubmed:copyrightInfo |
Copyright 2004 S. Karger AG, Basel
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pubmed:issnType |
Print
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pubmed:volume |
9
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
34-46
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pubmed:dateRevised |
2010-11-18
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pubmed:meshHeading |
pubmed-meshheading:14676472-Adolescent,
pubmed-meshheading:14676472-Adult,
pubmed-meshheading:14676472-Aged,
pubmed-meshheading:14676472-Alternative Splicing,
pubmed-meshheading:14676472-Audiometry, Pure-Tone,
pubmed-meshheading:14676472-Carrier Proteins,
pubmed-meshheading:14676472-Child,
pubmed-meshheading:14676472-DNA Mutational Analysis,
pubmed-meshheading:14676472-Female,
pubmed-meshheading:14676472-Genetic Linkage,
pubmed-meshheading:14676472-Genotype,
pubmed-meshheading:14676472-Hearing Loss, Sensorineural,
pubmed-meshheading:14676472-Humans,
pubmed-meshheading:14676472-Male,
pubmed-meshheading:14676472-Middle Aged,
pubmed-meshheading:14676472-Mutation,
pubmed-meshheading:14676472-Pedigree,
pubmed-meshheading:14676472-Receptors, Estrogen,
pubmed-meshheading:14676472-Speech Discrimination Tests,
pubmed-meshheading:14676472-Tomography, X-Ray Computed,
pubmed-meshheading:14676472-Vestibular Function Tests
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pubmed:articleTitle |
A novel mutation identified in the DFNA5 gene in a Dutch family: a clinical and genetic evaluation.
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pubmed:affiliation |
Department of Otorhinolaryngology, University Medical Centre Nijmegen, Nijmegen, The Netherlands. a.bischoff@kno.umcn.nl
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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