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To investigate the effect of cochlear implants in deaf patients with TMPRSS3 gene pathogenic variations. 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). 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. 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.

Citation

Rong Yu, Kai Wang, Liujun You, Junxin Kang, Honghui Ai, Hongqun Jiang. Cochlear Implants in Deaf Patients with Novel TMPRSS3 Gene Mutation. Alternative therapies in health and medicine. 2023 Jul;29(5):102-106

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PMID: 37023310

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