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Updated: Jan 26, 2026

Author Spotlight: Optimizing EAS with Long Electrodes for Enhanced Cochlear Coverage and Hearing Preservation
Published on: October 11, 2024
[Application of next generation sequencing for the diagnosis of congenital hearing loss]
Shumin Ren1, Xiangdong Kong, Huirong Shi
1The First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450000, China.
Objective:
To identify genetic mutations among patients with hearing loss but without common GJB2, SLC26A4, 12 SrRNA mutations.
Methods:
Thirty-three patients were subjected to next-generation sequencing (NGS). Suspected mutations were verified by Sanger sequencing.
Results:
Four patients were found to harbor previously known pathogenic variations, and four were found to carry suspicious pathogenic variations, which yielded a detection rate of 24.2%.
Conclusion:
NGS can improve the detection rate for mutations underlying congenital hearing loss and improve the efficiency and accuracy of the diagnosis.
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