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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.

Objective: To investigate the effect and mechanism of Pou4f3 gene mutation on pyroptosis in cochleae of cisplatin-induced deafness mice., Methods: Mice were intraperitoneally injected with cisplatin to construct an animal model of deafness, and sh-Pou4f3 and mutant vector were injected to alter gene expression. TUNEL staining was used to assess the apoptosis level of cochlear hair cells, ELISA was used to detect the secretion of inflammatory factors, and immunofluorescence and Western Blot were used to detect the expression of pyroptosis related factors., Results: Cisplatin induced pyroptosis through NLRP3/Caspase-3/GSDME pathway and significantly down-regulated Pou4f3 level. Pou4f3 mutations promote cochlear hair cell pyroptosis by activating the NLRP3/Caspase-3/GSDME pathway. Knockdown of Pou4f3 can superimpose cisplatin treatment to induce pyroptosis of cochlear hair cells through NLRP3/Caspase-3/GSDME pathway., Conclusion: Pou4f3 gene mutation promotes pyroptosis of cochleae in cisplatin-induced deafness mice through NLRP3/Caspase-3/GSDME pathway., Competing Interests: Declaration of Competing Interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (Copyright © 2022 Elsevier B.V. All rights reserved.)

Purpose: To report an interstitial deletion of Xq21.1 in chromosome X in a boy with congenital deafness. Methods: The proband underwent a thorough physical examination and a detailed audiological and temporal bone computed tomography (CT) scan. Cochlear implantation was performed on the proband, and follow‐up was conducted. High throughput sequencing and copy number analysis was made of peripheral blood samples from the proband, family members, and control subjects. Results: Sensorineural hearing loss was present in the boy and temporal bone CT scan showed a bilateral incomplete partition type III anomaly (IP‐III). Q21.1 (79.40–83.32 Mb) of chromosome X in the proband had a copy number deletion with a fragment size of about 3.92 Mb. Categories of auditory performance scores and SIR scores of the cochlea in this child improved after surgery. Conclusion: Through the analysis of POU3F4, a novel mutation site with potentially pathogenic significance was found. Level of Evidence: 5. [ABSTRACT FROM AUTHOR]