Patients with CDH23 mutations and the 1555A>G mitochondrial mutation are good candidates for electric acoustic stimulation (EAS).
Patients with CDH23 mutations and the 1555A>G mitochondrial mutation are good candidates for electric acoustic stimulation (EAS).
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DOI：
10.3109/00016489.2011.649493
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发表时间：
2012-04
影响因子：
1.4
通讯作者：
Iwasaki S
中科院分区：
文献类型：
--
作者：
Usami S;Miyagawa M;Nishio SY;Moteki H;Takumi Y;Suzuki M;Kitano Y;Iwasaki S
结论：在我们的一系列电声刺激（EAS）患者中发现了CDH23突变和1555A>G线粒体突变，证实了这些基因在高频听力损失中的重要性。成功的听力保留以及EAS的良好结果表明，具有这种突变组合的患者是EAS的良好候选人。目的：筛选可能导致高频听力损失的基因突变，以确定EAS患者的相关基因。除了回顾残留听力损失患者的遗传背景外，还评估了EAS对特定基因突变患者的益处。方法：18例（晚发型15例，早发3例）接受EAS治疗的残余听力患者纳入本研究。进行遗传分析以鉴定GJB2、CDH23、SLC26A4和1555个线粒体突变。结果：3例早发性患者存在CDH23突变。1例晚发性患者有1555 A>G线粒体突变。
Conclusions: CDH23 mutations and the 1555A>G mitochondrial mutation were identified among our series of electric acoustic stimulation (EAS) patients, confirming that these genes were important in hearing loss with involvement of high frequency. Successful hearing preservation as well as good outcomes from EAS indicated that patients with this combination of mutations are good candidates for EAS. Objectives: Screening for gene mutations that possibly cause hearing loss involving high frequency was performed to identify the responsible genes in patients with EAS. In addition to a review of the genetic background of the patients with residual hearing loss, the benefit of EAS for patients with particular gene mutations was evaluated. Methods: Eighteen patients (15 late-onset, 3 early-onset) with residual hearing who had received EAS were included in this study. Genetic analysis was performed to identify GJB2, CDH23, SLC26A4, and the 1555 mitochondrial mutations. Results: Three early-onset patients had CDH23 mutations. One late-onset patient had the 1555 A>G mitochondrial mutation.
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影响因子：
30.8
作者：
PREZANT, TR;AGAPIAN, JV;FISCHELGHODSIAN, N
通讯作者：
FISCHELGHODSIAN, N
影响因子：
1.4
作者：
Usami S;Moteki H;Suzuki N;Fukuoka H;Miyagawa M;Nishio SY;Takumi Y;Iwasaki S;Jolly C
通讯作者：
Jolly C
DOI：
10.1016/j.ijporl.2009.09.036
发表时间：
2009-12-01
影响因子：
1.5
作者：
Coninx, F.;Weichbold, V.;Brachmaier, J.
通讯作者：
Brachmaier, J.
影响因子：
9.8
作者：
Astuto, LM;Bork, JM;Kimberling, WJ
通讯作者：
Kimberling, WJ
影响因子：
64.8
作者：
Siemens, J;Lillo, C;Müller, U
通讯作者：
Müller, U