2024-03-29T14:44:54Z
https://soar-ir.repo.nii.ac.jp/oai
oai:soar-ir.repo.nii.ac.jp:00003681
2022-12-14T04:07:41Z
461:462
Patients with CDH23 mutations and the 1555A > G mitochondrial mutation are good candidates for electric acoustic stimulation (EAS)
Usami, Shin-ichi
Miyagawa, Maiko
Nishio, Shin-Ya
Moteki, Hideaki
Takumi, Yutaka
Suzuki, Mika
Kitano, Yoko
Iwasaki, Satoshi
Residual hearing
hearing preservation
gene
mitochondria
12S rRNA
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.
Article
ACTA OTO-LARYNGOLOGICA. 132(4):377-384 (2012)
journal article
INFORMA HEALTHCARE
2012-04
application/pdf
ACTA OTO-LARYNGOLOGICA
4
132
377
384
0001-6489
AA0050923X
https://soar-ir.repo.nii.ac.jp/record/3681/files/Patients_CDH23_mutations_1555AG_mitochondrial.pdf
eng
22443853
https://pubmed.ncbi.nlm.nih.gov/22443853
10.3109/00016489.2011.649493
https://doi.org/10.3109/00016489.2011.649493
Copyright© 2012 Informa Healthcare