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Hearing Loss: Recent Progress in Molecular Genomics
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Hearing Loss: Recent Progress in Molecular Genomics

A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Genetics and Genomics".

Deadline for manuscript submissions: 20 February 2026 | Viewed by 1820

Special Issue Editor

Prof. Dr. Chen-Chi Wu

E-Mail Website
Guest Editor
Department of Otolaryngology, National Taiwan University Hospital, Taipei, Taiwan
Interests: pediatric otology; cochlear implantation; endoscopic ear surgery; genetics of deafness; cochlear implantation; minimally invasive ear surgery
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Hearing loss, a pervasive global health issue, has complex origins. Recent advances in high-throughput genetic sequencing have revolutionized the study of hearing loss, enabling researchers to pinpoint deafness-related genetic etiologies for accurate genetic diagnosis. Novel bioinformatics analyses also hold great promise for translational medicine, providing a solid foundation for accurate clinical application. In addition, gene therapy is emerging as a promising avenue for the treatment of hearing loss by repairing defective genes to cure hearing loss.

This Special Issue aims to advance the understanding and treatment of hearing loss through cutting-edge molecular genetic research. We invite scientists to submit manuscripts on high-throughput sequencing technologies or sophisticated bioinformatics analyses to improve genetic diagnosis, on novel biomarkers as potential prognostic indicators, and on gene therapeutics and drug delivery strategies. We welcome submissions of both original research articles and insightful review articles that collectively contribute to the translation of genetic discoveries into effective clinical interventions for hearing loss.

Prof. Dr. Chen-Chi Wu
Guest Editor

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. International Journal of Molecular Sciences is an international peer-reviewed open access semimonthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. There is an Article Processing Charge (APC) for publication in this open access journal. For details about the APC please see here. Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • hearing loss
  • high-throughput sequencing
  • prognostic analyses
  • translational medicine
  • gene therapy

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Published Papers (3 papers)

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Research

17 pages, 5644 KB  
Article
Mutation Spectrum of GJB2 in Taiwanese Patients with Sensorineural Hearing Loss: Prevalence, Pathogenicity, and Clinical Implications
by Yi-Feng Lin, Che-Hong Chen, Chang-Yin Lee, Hung-Ching Lin and Yi-Chao Hsu
Int. J. Mol. Sci. 2025, 26(17), 8213; https://doi.org/10.3390/ijms26178213 - 24 Aug 2025
Abstract
Hearing loss is often caused by genetic and environmental factors, with inherited mutations responsible for 50–60% of cases. The GJB2 gene, encoding connexin 26, is a major contributor to nonsyndromic sensorineural hearing loss (NSHL) due to its role in cellular communication critical for [...] Read more.
Hearing loss is often caused by genetic and environmental factors, with inherited mutations responsible for 50–60% of cases. The GJB2 gene, encoding connexin 26, is a major contributor to nonsyndromic sensorineural hearing loss (NSHL) due to its role in cellular communication critical for auditory function. In Taiwan, common deafness-associated genes include GJB2, SLC26A4, OTOF, MYO15A, and MTRNR1, which were similar to those found in other populations. The most common pathogenic genes is GJB2 mutations and the hearing level in children with GJB2 p.V37I/p.V37I or p.V37I/c.235delC was estimated to deteriorate at approximately 1 decibel hearing level (dB HL)/year. We found another common mutation in Taiwan Biobank, GJB2 p.I203T, which were identified in our data and individuals carrying this mutation experienced more severe hearing loss, suggesting a synergistic effect of these mutations on auditory impairment. We suggest GJB2 whole genetic screening is recommended for clinical management and prevention strategies in Taiwan. This study used data from the Taiwan Biobank to analyze allele frequencies of GJB2 gene variants. Predictive software (PolyPhen-2 version 2.2, SIFT for missense variants 6.2.1, MutationTaster Ensembl 112 and Alphamissense CC BY-NC-SA 4.0) assessed the pathogenicity of specific mutations. Additionally, 82 unrelated NSHL patients were screened for mutations in these genes using PCR and DNA sequencing. The study explored the correlation between genetic mutations and the severity of hearing loss in patients. Several common GJB2 mutation sites were identified from the Taiwan Biobank, including GJB2 p.V37I (7.7%), GJB2 p.I203T (6%), GJB2 p.V27I (31%), and GJB2 p.E114G (22%). Bioinformatics analysis classified GJB2 p.I203T as pathogenic, while GJB2 p.V27I and GJB2 p.E114G were considered polymorphisms. Patients with GJB2 p.I203T mutation experienced more severe hearing loss, emphasizing the potential interaction between the gene in auditory impairment. The mutation patterns of GJB2 in the Taiwanese population are similar to other East Asian regions. Although GJB2 mutations represent the predominant genetic cause of hereditary hearing loss, the corresponding mutant proteins exhibit detectable aggregation, particularly at cell–cell junctions, suggesting at least partial trafficking to the plasma membrane. Genetic screening for these mutations—especially GJB2 p.I203T (6%), GJB2 p.V27I (31%), and GJB2 p.E114G (22%)—is essential for the effective diagnosis and management of non-syndromic hearing loss (NSHL) in Taiwan. We found GJB2 p.I203T which were identified in our data and individuals carrying this mutation experienced more severe hearing loss, suggesting a synergistic effect of these mutations on auditory impairment. We suggest whole GJB2 gene sequencing in genetic screening is recommended for clinical management and prevention strategies in Taiwan. These findings have significant clinical and public health implications for the development of preventive and therapeutic strategies. Full article
(This article belongs to the Special Issue Hearing Loss: Recent Progress in Molecular Genomics)
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13 pages, 1949 KB  
Article
Low Efficiency of Homology-Independent Targeted Integration for CRISPR/Cas9 Correction in the Vicinity of the SLC26A4 c.919-2A>G Variant
by Chang-Han Ho, Cheng-Yu Tsai, Chi-Chieh Chang, Chin-Ju Hu, Cheng-Yen Huang, Ying-Chang Lu, Pei-Hsuan Lin, Chin-Hsien Lin, Han-I Lin, Chih-Hsin OuYang, Chuan-Jen Hsu, Tien-Chen Liu, You-Tzung Chen, Yen-Hui Chan, Yen-Fu Cheng and Chen-Chi Wu
Int. J. Mol. Sci. 2025, 26(11), 4980; https://doi.org/10.3390/ijms26114980 - 22 May 2025
Viewed by 757
Abstract
Recessive variants of SLC26A4 are a common cause of hereditary hearing impairment and are responsible for non-syndromic enlarged vestibular aqueducts and Pendred syndrome. Patients with bi-allelic SLC26A4 variants often suffer from fluctuating hearing loss and recurrent vertigo, ultimately leading to severe to profound [...] Read more.
Recessive variants of SLC26A4 are a common cause of hereditary hearing impairment and are responsible for non-syndromic enlarged vestibular aqueducts and Pendred syndrome. Patients with bi-allelic SLC26A4 variants often suffer from fluctuating hearing loss and recurrent vertigo, ultimately leading to severe to profound hearing impairment. However, there are currently no satisfactory prevention or treatment options for this condition. The CRISPR/Cas9 genome-editing technique is a well-known tool for correcting point mutations or manipulating genes and shows potential therapeutic applications for hereditary disorders. In this study, we used the homology-independent targeted integration (HITI) strategy to correct the SLC26A4 c.919-2A>G variant, the most common SLC26A4 variant in the Han Chinese population. Next-generation sequencing was performed to evaluate the editing efficiency of the HITI strategy. The results showed that only 0.15% of the reads successfully exhibited HITI integration, indicating that the c.919-2 region may not be a suitable region for HITI selection. This suggests that other site selection or insertion strategies may be needed to improve the efficiency of correcting the SLC26A4 c.919-2A>G variant. This experience may serve as a valuable reference for other researchers considering CRISPR target design in this region. Full article
(This article belongs to the Special Issue Hearing Loss: Recent Progress in Molecular Genomics)
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19 pages, 5102 KB  
Article
Bi-Allelic MARVELD2 Variant Identified with Exome Sequencing in a Consanguineous Multiplex Ghanaian Family Segregating Non-Syndromic Hearing Loss
by Elvis Twumasi Aboagye, Samuel Mawuli Adadey, Leonardo Alves de Souza Rios, Kevin K. Esoh, Edmond Wonkam-Tingang, Lettilia Xhakaza, Carmen De Kock, Isabelle Schrauwen, Lucas Amenga-Etego, Dirk Lang, Gordon A. Awandare, Suzanne M. Leal, Shaheen Mowla and Ambroise Wonkam
Int. J. Mol. Sci. 2025, 26(7), 3337; https://doi.org/10.3390/ijms26073337 - 3 Apr 2025
Viewed by 794
Abstract
Genetic studies and phenotypic expansion of hearing loss (HL) for people living in Africa are greatly needed. We evaluated the clinical phenotypes of three affected siblings presenting non-syndromic (NS) HL and five unaffected members of a consanguineous Ghanaian family. Analysis of exome sequence [...] Read more.
Genetic studies and phenotypic expansion of hearing loss (HL) for people living in Africa are greatly needed. We evaluated the clinical phenotypes of three affected siblings presenting non-syndromic (NS) HL and five unaffected members of a consanguineous Ghanaian family. Analysis of exome sequence data was performed for all affected and one unaffected family members. In-depth genetic and cellular characterization studies were performed to investigate biological significance of the implicated variant using bioinformatic tools and cell-based experimentation. Audiological examinations showed severe-to-profound, bilateral, symmetrical, and post-lingual onset. The whole-exome sequencing (WES) identified a homozygous frameshift variant: MARVEL domain containing 2 (MARVELD2):c.1058dup;p.(Val354Serfs*5) in all affected siblings. This frameshift variant leads to an early stop codon insertion and predicted to be targeted by nonsense medicated decay (mutant protein predicted to lack conserved C-terminal domain if translated). Cell immunofluorescence and immunocytochemistry studies exposed the functional impact of the mutant protein’s expression, stability, localization, protein–protein binding, barrier function, and actin cytoskeleton architecture. The identified variant segregates with NSHL in the index Ghanaian family. The data support this nonsense variant as pathogenic, likely to impact the homeostasis of ions, solutes, and other molecules, compromising membrane barrier and signaling in the inner ear spaces. Full article
(This article belongs to the Special Issue Hearing Loss: Recent Progress in Molecular Genomics)
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