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Cochlear Implants in Deaf Patients with Novel TMPRSS3 Gene Mutation.
Alternative Therapies in Health and Medicine
|April 6, 2023
Summary
Cochlear implants significantly improve hearing and speech in deaf patients with TMPRSS3 gene mutations. Genetic testing before surgery can help predict outcomes for individuals with deafness gene mutations.
Area of Science:
- Genetics
- Otolaryngology
- Audiology
Background:
- TMPRSS3 gene mutations are a cause of profound hearing loss.
- Genetic variations in deafness genes require further investigation for effective treatment strategies.
Purpose of the Study:
- To evaluate the efficacy of cochlear implants in patients with TMPRSS3 gene pathogenic variations.
- To assess the impact of cochlear implantation on auditory and speech abilities in genetically defined deafness.
Main Methods:
- Two patients with profound hearing loss and identified TMPRSS3 gene variations underwent unilateral cochlear implantation.
- Auditory behavior (Categories of Performance [CAP]) and speech intelligibility (Speech Intelligibility Rating [SIR]) were assessed pre- and post-surgery at 3 and 6 months.
Main Results:
- Three pathogenic single nucleotide variations (SNVs) in the TMPRSS3 gene and a 21q22.3 deletion were identified in the patients.
- Both CAP and SIR scores demonstrated improvement over the 6-month follow-up period.
Conclusions:
- Cochlear implantation is an effective treatment for deafness associated with TMPRSS3 gene mutations.
- Preoperative genetic testing provides valuable prognostic information for patients with deafness gene mutations.
