Vestibular Functions of Hereditary Hearing Loss Patients with GJB2 Mutations
Vestibular Functions of Hereditary Hearing Loss Patients with GJB2 Mutations
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DOI：
10.1159/000368292
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发表时间：
2015-01-01
影响因子：
1.6
通讯作者：
Usami, Shin-ichi
中科院分区：
文献类型：
--
作者：
Tsukada, Keita;Fukuoka, Hisakuni;Usami, Shin-ichi
目的：GJB 2基因的突变引起了特别的关注，因为它是所有人群中先天性耳聋最常见的致病基因。详细的听力学特征，包括基因型-表型相关性，已经有很好的文献记载。然而，尽管前庭终器中有丰富的基因和蛋白表达，但前庭症状和前庭功能尚未阐明。在本研究中，前庭功能的患者诊断为GJB 2相关性耳聋进行了评估。主题和方法：对24例GJB 2双等位基因突变患者进行冷热试验和颈前庭诱发肌源性电位（cVEMP）检测，评价前庭功能。结果和讨论：23例患者中有21例（91.3%）的热量反应正常，cVEMP振幅显著低于对照组。在能够接受前庭测试的患者中，对热量测试的大多数正常反应表明外半规管完好无损。然而，大多数GJB 2患者表现出低cVEMP反应，表明囊状缺陷。(C)2015 S. Karger AG，巴塞尔
Objectives: Mutations in the GJB2 gene have been of particular interest as it is the most common causative gene for congenital deafness in all populations. Detailed audiological features, including genotype-phenotype correlations, have been well documented. However, in spite of abundant gene as well as protein expression in the vestibular end organs, neither vestibular symptoms nor vestibular functions have yet been elucidated. In the present study, vestibular functions were evaluated in patients diagnosed with GJB2 related deafness. Subjects and Methods: Vestibular functions were evaluated by caloric test and cervical vestibular evoked myogenic potential (cVEMP) testing in 24 patients with biallelic GJB2 mutations. Results and Discussion: Twenty-one of 23 patients (91.3%) had normal caloric responses and significantly lower cVEMP amplitudes than the control subjects. In the patients who were able to undergo vestibular testing, the mostly normal reactions to caloric testing indicated that the lateral semicircular canal was intact. However, the majority of GJB2 patients showed low cVEMP reactions, indicating a saccular defect. (C) 2015 S. Karger AG, Basel