Vestibular function of patients with profound deafness related to GJB2 mutation
Vestibular function of patients with profound deafness related to GJB2 mutation
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DOI：
10.3109/00016481003596508
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发表时间：
2010-09-01
影响因子：
1.4
通讯作者：
Ikeda, Katsuhisa
中科院分区：
文献类型：
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作者：
Kasai, Misato;Hayashi, Chieri;Ikeda, Katsuhisa
结论：GJB2基因突变不仅与耳聋有关，而且与前庭功能障碍的发生有关。然而，前庭功能障碍往往是单侧的，与双侧耳聋相比，前庭功能障碍的严重程度较低。目的：耳蜗和前庭终器之间的相关性表明，一些先天性耳聋的儿童可能有前庭功能障碍。另一方面，GJB2基因突变是非综合征性耳聋的最常见原因。先天性耳聋患者的前庭功能与GJB2基因突变有关，目前尚不清楚。本研究的目的是分析GJB2基因突变与成人CD前庭功能障碍的关系。方法：31例受试者，包括10例健康志愿者和21例CD患者。进行了听力测试和遗传分析。检测前庭诱发肌源性电位（VEMPs），并进行冷热试验评价前庭功能。然后对前庭功能障碍的百分比进行统计学分析。结果：所有CD患者的听力水平表现为重度至极重度损害。在7例CD患者中，其听力损害与GJB2突变有关。7例与GJB2突变相关的CD患者中有5例在两项测试中的一项或两项中表现出异常。与GJB2突变相关的CD患者前庭功能障碍的百分比显著高于与GJB2突变无关的CD患者和健康对照组。
Conclusion: GJB2 mutations are responsible not only for deafness but also for the occurrence of vestibular dysfunction. However, vestibular dysfunction tends to be unilateral and less severe in comparison with that of bilateral deafness. Objectives: The correlation between the cochlear and vestibular end-organs suggests that some children with congenital deafness may have vestibular impairments. On the other hand, GJB2 gene mutations are the most common cause of nonsyndromic deafness. The vestibular function of patients with congenital deafness (CD), which is related to GJB2 gene mutation, remains to be elucidated. The purpose of this study was to analyze the relationship between GJB2 gene mutation and vestibular dysfunction in adults with CD. Methods: A total of 31 subjects, including 10 healthy volunteers and 21 patients with CD, were enrolled in the study. A hearing test and genetic analysis were performed. The vestibular evoked myogenic potentials (VEMPs) were measured and a caloric test was performed to assess the vestibular function. The percentage of vestibular dysfunction was then statistically analyzed. Results: The hearing level of all CD patients demonstrated a severe to profound impairment. In seven CD patients, their hearing impairment was related to GJB2 mutation. Five of the seven patients with CD related to GJB2 mutation demonstrated abnormalities in one or both of the two tests. The percentage of vestibular dysfunction of the patients with CD related to GJB2 mutation was statistically higher than in patients with CD unrelated to GJB2 mutation and in healthy controls.