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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: 28 July 2025 | Viewed by 515

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 (1 paper)

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Research

19 pages, 5102 KiB  
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 407
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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