1. Cochlear Implants in Deaf Patients with Novel TMPRSS3 Gene Mutation.
- Author
-
Yu R, Wang K, You L, Kang J, Ai H, and Jiang H
- Subjects
- Humans, Hearing, Membrane Proteins genetics, Neoplasm Proteins, Serine Endopeptidases genetics, Treatment Outcome, Cochlear Implantation, Cochlear Implants, Deafness genetics, Deafness surgery, Speech Perception
- Abstract
Objective: To investigate the effect of cochlear implants in deaf patients with TMPRSS3 gene pathogenic variations., Methods: Variations of deafness genes were detected in 2 patients with profound hearing loss. Both received unilateral cochlear implantation. Hearing and speech abilities were evaluated and analyzed before and 3 and 6 months after surgery. The analysis included post-surgery evaluation of auditory behavior (Categories of Performance [CAP]) and Speech Intelligibility Rating (SIR)., Results: In the 2 patients, 3 pathogenic single nucleotide variations (SNVs) of TMPRSS3 gene and a large deletion in 21q22.3 were detected. The CAP and SIR grades increased with the recovery time., Conclusion: Cochlear implants have a good effect in patients with TMPRSS3 gene mutation deafness. Preoperative gene testing has a certain reference significance for the prognosis in patients with the deafness gene mutation.
- Published
- 2023