The Patients Associated With TMPRSS3 Mutations Are Good Candidates for Electric Acoustic Stimulation
The Patients Associated With TMPRSS3 Mutations Are Good Candidates for Electric Acoustic Stimulation
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DOI：
10.1177/0003489415575056
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发表时间：
2015-05-01
影响因子：
1.4
通讯作者：
Usami, Shin-ichi
中科院分区：
文献类型：
--
作者：
Miyagawa, Maiko;Nishio, Shin-ya;Usami, Shin-ichi
目的：为了阐明TMPRSS3突变在听力损失人群中的频率，进行了遗传分析，并收集了详细的临床特征。方法：采用大规模平行DNA测序（MPS）技术，对1 120例日本听力损失患者的63个耳聋基因的外显子进行测序。通常，所有患者都表现出滑雪坡型听力损失和进行性听力损失。5例患者中3例接受电声刺激（EAS）治疗，效果良好。此外，发病年龄不同，有一些基因型和表型（发病年龄）之间的相关性。结论：MPS是一个强有力的工具，用于鉴定罕见的致聋基因，如TMPRSS 3。目前的临床特征不仅证实了以前的研究结果，而且提供了临床证据，表明EAS对TMPRSS3突变患者有益。
Objectives: To clarify the frequency of TMPRSS3 mutations in the hearing loss population, genetic analysis was performed, and detailed clinical characteristics were collected. Optical intervention for patients with TMPRSS3 mutations was also discussed.Methods: Massively parallel DNA sequencing (MPS) was applied for the target exon-sequencing of 63 deafness genes in a population of 1 120 Japanese hearing loss patients.Results: Hearing loss in 5 patients was found to be caused by compound heterozygous TMPRSS3 mutations, and their detailed clinical features were collected and analyzed. Typically, all of the patients showed ski slope type audiogranns and progressive hearing loss. Three of the 5 patients received electric acoustic stimulation (EAS), which showed good results. Further, the onset age was found to vary, and there were some correlations between genotype and phenotype (onset age).Conclusions: MPS is a powerful tool for the identification of rare causative deafness genes, such as TMPRSS3. The present clinical characteristics not only confirmed the findings from previous studies but also provided clinical evidence that EAS is beneficial for patients possessing TMPRSS3 mutations.