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Biomedicines
Special Issues
The Molecular Mechanisms of Hearing, Balance and Deafness
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The Molecular Mechanisms of Hearing, Balance and Deafness

A special issue of Biomedicines (ISSN 2227-9059). This special issue belongs to the section "Molecular and Translational Medicine".

Deadline for manuscript submissions: 31 October 2025 | Viewed by 1267

Special Issue Editor

Dr. Francisco J. del Castillo

E-Mail Website
Guest Editor
1. Servicio de Genética, Hospital Universitario Ramón y Cajal - IRYCIS, Madrid, Spain
2. Unit 728, Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain
Interests: genomics of rare diseases; lysosomal diseases; autoinflammatory diseases; genetics of hearing impairment; animal models of disease
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Over the last 25 years, the molecular mechanisms underlying hearing and balance have begun to be unraveled by combining genetics, transcriptomics, protein interaction analyses, electrophysiology, systems biology, cellular and animal models, bioinformatic modelling and data science.

We know now that hearing is an intricate process in which mechantransduction is combined with diverse molecular specializations (such as active amplification, electromotility, adaptation, ribbon synapses, etc.) and a complex neural circuitry for the encoding and analysis of sound, with exquisite acuity and fidelity. The sense of balance participates from the same basic sensory cell types, transduction molecules and mechanisms underlying hearing, so that defects in this complex machinery may affect both hearing and balance.

Today, interventions targeting specific kinds of deafness have begun to be tested, with multiple clinical trials, employing different therapeutic approaches, currently underway.

In this Special Issue, we will welcome reviews and original articles relating to the processes of hearing and balance and any pathologies that affect these two senses, from a molecular point of view. The scope of topics includes (but is not limited to) sensory mechanisms, homeostatic processes, sound encoding, the pathogenesis and modelling of deafness and balance disorders, diagnostics and therapeutic interventions, and so on.

Dr. Francisco J. del Castillo
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. Biomedicines is an international peer-reviewed open access monthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2600 CHF (Swiss Francs). 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
  • balance
  • deafness
  • molecular mechanisms
  • genetics
  • transcriptomics

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Published Papers (2 papers)

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19 pages, 4733 KB  
Article
Unraveling the Functional Impact of Splicing Variants in Inherited Hearing Disorders Through Minigene Splicing Assays
by Lara Emily Rosso, Giulia Pianigiani, Anna Morgan, Elisa Rubinato, Elisa Paccagnella, Stefania Lenarduzzi, Anita Wischmeijer, Beatrice Spedicati and Giorgia Girotto
Biomedicines 2025, 13(9), 2245; https://doi.org/10.3390/biomedicines13092245 - 11 Sep 2025
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Abstract
Background/Objectives: Hereditary hearing loss (HHL) is a genetically heterogeneous condition, involving more than 150 genes in non-syndromic cases and associated with over 400 distinct disorders in syndromic forms. Although whole-exome sequencing (WES) has markedly increased diagnostic yield, a substantial number of cases [...] Read more.
Background/Objectives: Hereditary hearing loss (HHL) is a genetically heterogeneous condition, involving more than 150 genes in non-syndromic cases and associated with over 400 distinct disorders in syndromic forms. Although whole-exome sequencing (WES) has markedly increased diagnostic yield, a substantial number of cases remain unsolved, often due to intronic variants that affect splicing and are difficult to interpret. This study aimed to characterize the potential impact of intronic variants predicted to alter splicing in families affected by HHL. Methods: The effect of seven intronic variants, previously identified in a diagnostic setting by WES within ADGRV1, ATP11A, GSDME, OTOF, OTOGL, and USH2A genes, was evaluated. To functionally validate these predictions, in vitro minigene splicing assays were subsequently performed. Results: All the identified variants were predicted to disrupt normal RNA splicing. The functional studies with minigene assays confirmed this observation and showed that the tested variants induced both exon skipping and activation of cryptic splice sites. In five out of seven cases, these splicing alterations caused a frameshift and introduced a premature termination codon, ultimately resulting in nonsense-mediated mRNA decay and protein degradation. Conclusions: This study expands the mutational spectrum of HL-related genes and highlights the importance of integrating in silico predictions with minigene assays. Such a combined approach is crucial for accurate interpretation of splicing variants, particularly when patient-derived RNA samples are unavailable. Full article
(This article belongs to the Special Issue The Molecular Mechanisms of Hearing, Balance and Deafness)
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14 pages, 1089 KB  
Article
Vestibular Deficit in Patients with Waardenburg Syndrome
by Mathilde Benifla, Margaux Serey-Gaut, Emilie Bois, Salma Jbyeh, Natacha Teissier, Monique Elmaleh-Bergès, Laurence Jonard, Véronique Pingault, Natalie Loundon, Kahina Belhous, Sandrine Marlin and Audrey Maudoux
Biomedicines 2025, 13(8), 2021; https://doi.org/10.3390/biomedicines13082021 - 19 Aug 2025
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Abstract
Background/Objectives: Waardenburg syndrome (WS) is a genetic disorder characterized by sensorineural hearing loss (SNHL) and pigmentation anomalies. While hearing impairment is a well-established feature of WS, vestibular dysfunction is also reported. This study aimed to investigate vestibular deficits in pediatric WS patients [...] Read more.
Background/Objectives: Waardenburg syndrome (WS) is a genetic disorder characterized by sensorineural hearing loss (SNHL) and pigmentation anomalies. While hearing impairment is a well-established feature of WS, vestibular dysfunction is also reported. This study aimed to investigate vestibular deficits in pediatric WS patients with SNHL, correlating these findings with molecular, audiometric, and radiological data to establish distinct phenotypic profiles for each WS subtype and associated pathogenic variants. Methods: This retrospective study included children with a genetically confirmed diagnosis of WS who underwent vestibular, auditory, and inner ear radiological assessments as part of their routine medical care between July 2000 and May 2022. Data were collected from medical records, including medical history, clinical findings, and assessment results. Results: Vestibular dysfunction was found to be highly prevalent, affecting 64% of the cohort, often impacting the canal sensory organ (89%) and occasionally the otolithic function (33%). Patients with SOX10 pathogenic variations exhibited a markedly higher risk of vestibular dysfunction, highlighting the unique role of SOX10 in inner ear development. Notably, inner ear malformations were identified in all SOX10-mutated subjects, whereas such anomalies were rare among individuals with other WS gene variants, occurring in only two additional cases with minor malformations. Conclusions: This study reveals a significant prevalence of vestibular deficits in pediatric WS patients with SNHL, emphasizing the need for routine vestibular assessments. The higher prevalence and severity of vestibular impairments in SOX10-mutated patients underscore the importance of molecular analysis in clinical diagnosis and management. Full article
(This article belongs to the Special Issue The Molecular Mechanisms of Hearing, Balance and Deafness)
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