ORIGINAL RESEARCH article
Front. Genet.
Sec. Genetics of Common and Rare Diseases
Volume 16 - 2025 | doi: 10.3389/fgene.2025.1541333
This article is part of the Research TopicInsights in Genetics of Common and Rare Diseases 2024View all 13 articles
Outcomes of Cochlear Implants in Patients with PCDH15 Mutations: A Clinical Study
Provisionally accepted
- 1China-Japan Friendship Hospital, Beijing, China
- 2Beijing Angel Gene Medical Technology Co., Ltd, Beijing, China
- 3Department of Otolaryngology, Chinese PLA general Hospital, Haidian District, Beijing, China
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AbstractObjectives: To explore molecular diagnoses in cochlear implantation (CI) recipients and evaluate CI outcomes in patients with PCDH15 mutations.Methods: Whole-exome sequencing and biomedical informatics were used to identify potential genetic causes in 467 individuals with congenital sensorineural hearing loss. We reviewed six CI recipients with PCDH15 mutations, assessing their CI outcomes and clinical features.Results: Nine PCDH15 variants and a heterozygous variant in CDH23 were identified in members of five families who underwent CI. Six of these were novel variants: exon 14-21 del, exon 2 del, exon 19 del, two splicing variants (c.2869-2A>C, c.1918-1G>A) in PCDH15, and c.209C>T in CDH23. All but one of the individuals with PCDH15 mutations exhibited autosomal recessive inheritance; one showed both digenic and autosomal recessive inheritance. Variants in PCDH15 contributed to Usher syndrome type 1F in patients 1 and 5, whereas the remaining four had isolated deafness (DFNB23). All six patients expressed satisfaction with their CI outcomes.Conclusion: CI significantly improved auditory and communication abilities in individuals with PCDH15 mutations. Early intervention is critical for achieving favorable outcomes. Preoperative genetic testing in individuals with hearing loss provides valuable insights for predicting CI success, offering potential treatments for retinal degeneration in Usher syndrome and facilitating personalized genetic counseling.
Keywords: PCDH15 gene, sensorineural hearing loss, Genetic mutations, Usher syndrome, Cochlear Implantation, auditory and speech outcomes
Received: 07 Dec 2024; Accepted: 29 Apr 2025.
Copyright: © 2025 Bi, Chen, Kang, Lv, Yuan, Liu, Liu and Li. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
* Correspondence: Yuan Li, China-Japan Friendship Hospital, Beijing, China
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