A novel mutation identified in the DFNA5 gene in a Dutch family:: A clinical and genetic evaluation

被引:69
作者
Bischoff, AMLC
Luijendijk, MWJ
Huygen, PLM
van Duijnhoven, G
De Leenheer, EMR
Oudesluijs, GG
Van Laer, L
Cremers, FPM
Cremers, CWRJ
Kremer, H
机构
[1] UMCN, Dept Otorhinolaryngol, NL-6500 HB Nijmegen, Netherlands
[2] UMCN, Dept Human Genet, NL-6500 HB Nijmegen, Netherlands
[3] Univ Antwerp, Dept Med Genet, B-2020 Antwerp, Belgium
关键词
DFNA5; gene; hearing impairment; progressive; high frequency; splicing defect;
D O I
10.1159/000074185
中图分类号
R36 [病理学]; R76 [耳鼻咽喉科学];
学科分类号
100104 ; 100213 ;
摘要
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. Copyright (C) 2004 S. Karger AG, Basel.
引用
收藏
页码:34 / 46
页数:13
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