共 26 条
Additional Heterozygous 2507A>C Mutation of WFS1 in Progressive Hearing Loss at Lower Frequencies
被引:17
作者:

Fujikawa, Taro
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机构:
Tokyo Med & Dent Univ, Dept Otolaryngol, Grad Sch, Bunkyo Ku, Tokyo 1138519, Japan Tokyo Med & Dent Univ, Dept Otolaryngol, Grad Sch, Bunkyo Ku, Tokyo 1138519, Japan

Noguchi, Yoshihiro
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Tokyo Med & Dent Univ, Dept Otolaryngol, Grad Sch, Bunkyo Ku, Tokyo 1138519, Japan Tokyo Med & Dent Univ, Dept Otolaryngol, Grad Sch, Bunkyo Ku, Tokyo 1138519, Japan

Ito, Taku
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Tokyo Med & Dent Univ, Dept Otolaryngol, Grad Sch, Bunkyo Ku, Tokyo 1138519, Japan Tokyo Med & Dent Univ, Dept Otolaryngol, Grad Sch, Bunkyo Ku, Tokyo 1138519, Japan

Takahashi, Masatoki
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Tokyo Med & Dent Univ, Dept Otolaryngol, Grad Sch, Bunkyo Ku, Tokyo 1138519, Japan Tokyo Med & Dent Univ, Dept Otolaryngol, Grad Sch, Bunkyo Ku, Tokyo 1138519, Japan

Kitamura, Ken
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h-index: 0
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Tokyo Med & Dent Univ, Dept Otolaryngol, Grad Sch, Bunkyo Ku, Tokyo 1138519, Japan Tokyo Med & Dent Univ, Dept Otolaryngol, Grad Sch, Bunkyo Ku, Tokyo 1138519, Japan
机构:
[1] Tokyo Med & Dent Univ, Dept Otolaryngol, Grad Sch, Bunkyo Ku, Tokyo 1138519, Japan
关键词:
Wolfram syndrome type 1 gene;
nonsyndromic;
hereditary hearing loss;
DFNA6/14/38;
mid-frequency;
low-frequency;
electrocochleography;
SYNDROME TYPE-1 GENE;
WOLFRAM-SYNDROME;
MISSENSE MUTATION;
JAPANESE FAMILY;
IMPAIRMENT;
DISEASE;
DFNA6/14;
SUBUNIT;
LINKAGE;
4P16.3;
D O I:
10.1002/lary.20691
中图分类号:
R-3 [医学研究方法];
R3 [基础医学];
学科分类号:
1001 ;
摘要:
Objectives/Hypothesis: To describe the audiological profiles in a Japanese family with autosomal dominant hereditary sensorineural hearing loss (SNHL) and to identify the causative gene. Study Design: A family study at an academic tertiary referral center. Methods: A family with autosomal dominant hereditary SNHL was enrolled. Hearing loss (HL) of affected members showed mid-frequency SNHL in childhood and progressed at lower frequencies with age, resulting in low-frequency SNHL. To understand the pathology of HL of this family, we performed a genetic analysis of WFS1, TECTA, and GJB2 by direct sequencing, and further audiovestibular examinations, including speech audiometry, distortion product otoacoustic emissions, electrocochleography, auditory brainstem responses, and electronystagniography for some affected members. Results: A heterozygous A-to-C nucleotide transversion (c.2507A>C), resulting in a lysine-to-threonine substitution at codon 836 (K836T) was identified in exon 8 of WFS1. K836T was segregated with HL in the 15 participants in the genetic study but was not detected in the 212 normal chromosomes. Only polymorphic changes were detected in TECTA and GJB2. Audiovestibular examinations indicated purely cochlear HL and normal vestibular function. The summating potential/action potential ratios in electrocochleography increased in the bilateral ears of the proband. Conclusions: The family described with autosomal dominant inheritance of K836T of the WFS1 gene demonstrates a progressive hearing loss in the lower frequencies.
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页码:166 / 171
页数:6
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