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Audiology Research
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Genetics of Hearing Loss—Volume II
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Genetics of Hearing Loss—Volume II

A special issue of Audiology Research (ISSN 2039-4349).

Deadline for manuscript submissions: closed (29 February 2024) | Viewed by 18622

Special Issue Editors

Prof. Dr. Alessandro Martini

E-Mail Website
Guest Editor
Department of Neurosciences (DNS), Otolaryngology Section, Padova University, Padova, Italy
Interests: hearing disorders; otology; cochlear implants; audiology; genetics
Special Issues, Collections and Topics in MDPI journals
Prof. Dr. Giorgia Girotto

E-Mail Website
Guest Editor
1. Institute for Maternal and Child Health—IRCCS, Burlo Garofolo, 34127 Trieste, Italy
2. Department of Medicine, Surgery and Health Sciences, University of Trieste, 34149 Trieste, Italy
Interests: clinical and molecular genetics; hereditary and multifactorial hearing loss
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues, 

It is my pleasure to invite you to submit an article for a Special Issue on “Genetics of Hearing Loss—Volume II”, which follow the 2022 issue on the same topic.

The 2022 Issue was dedicated to Victor McKusick (1921–2008), known as the “father of medical genetics”: https://www.mdpi.com/journal/audiolres/special_issues/hearing_lose; the 2023 issue is dedicated to Bob Gorlin on the centenary of his birth (Robert James Gorlin (January 11, 1923–August 29, 2006)).

Dr. Robert Gorlin described more than 100 syndromes involving oral pathology, craniofacial genetics, otolaryngology, and obstetrics. He had more than 700 articles catalogued in PubMed and authored several genetics and oral pathology textbooks. Robert Gorlin also gave a great contribution in the field of hereditary hearing loss.  Gorlin published with Bruce Konigsmark Genetic and Metabolic Deafness, and this book [1] and the following ones [2–7] have been fundamental for the development of knowledge on genetic deafness and of great help in the clinical practice.

Many discoveries have revolutionized our approach to children with hearing loss in these 50 years. However, due to the extreme genetic heterogeneity of non-syndromic hearing loss, the research in this field radically changed only after the advent of next-generation sequencing technologies, which have allowed the discovery of more than 100 genes known so far.

In this Special Issue, we would like to collect contributions on the genetics of hearing loss, a continuously evolving topic.

Reference

  1. Konigsmark, B.W.; Gorlin, R.J. Genetic and Metabolic Deafness; W B Saunders Co: Philadelphia, PA, USA,
  2. Gorlin, J. Hereditary Hearing Loss & Its Syndromes. W B Saunders Co: Philadelphia, PA, USA, 1980.
  3. Gorlin, R.J. Morphogenesis and malformation of the ear: Fifth International Workshop on Morphogenesis and Malformation, held at Gulf State Park Resort, Gulf Shores, Alabama (Birth defects original article series); Alan R. Liss: New York, NY, USA, 1980.
  4. Gorlin, R.J.; Toriello, H.V.; Cohen, M.M. Jr. Hereditary Hearing Loss and Its Syndromes Toriello. (Oxford Monographs on Medical Genetics, No. 28); Oxford University Press: New York, NY, USA, 1995.
  5. Gorlin, R.J.; Cohen, M.M. Jr; Hennekam, R.C.M. Syndromes of the Head and Neck (Oxford Monographs on Medical Genetics, No. 42), 4th Edition; Oxford University Press: New York, NY, USA, 2002.
  6. Toriello, H.V.; Reardon, W.; Gorlin, R.J. Hereditary Hearing Loss and Its Syndromes (Oxford Monographs on Medical Genetics, No. 50); Oxford University Press: New York, NY, USA, 2004.
  7. Toriello, H.V. Smith, S.D. Hereditary Hearing Loss and Its Syndromes (Oxford Monographs on Medical Genetics, No. 62); Oxford University Press: New York, NY, USA, 2013.

Thank you very much!

Prof. Dr. Alessandro Martini
Prof. Dr. Giorgia Girotto
Guest Editors

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. Audiology Research is an international peer-reviewed open access semimonthly 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 1400 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 loss
  • deafness
  • genetics
  • hereditary
  • next-generation sequencing

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Related Special Issue

Published Papers (8 papers)

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Editorial

Jump to: Research, Review, Other

3 pages, 724 KiB  
Editorial
Robert J. Gorlin: Personal Memory of a Friend and Mentor in Clinical Genetics
by Bruno Dallapiccola and Rita Mingarelli
Audiol. Res. 2023, 13(6), 939-941; https://doi.org/10.3390/audiolres13060081 - 23 Nov 2023
Viewed by 877
Abstract
Robert J [...] Full article
(This article belongs to the Special Issue Genetics of Hearing Loss—Volume II)
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6 pages, 232 KiB  
Editorial
Genetic Evaluation of Prelingual Hearing Impairment: Recommendations of an European Network for Genetic Hearing Impairment
by Laurence Jonard, Davide Brotto, Miguel A. Moreno-Pelayo, Ignacio del Castillo, Hannie Kremer, Ronald Pennings, Helena Caria, Graça Fialho, An Boudewyns, Guy Van Camp, Monika Ołdak, Dominika Oziębło, Naïma Deggouj, Romolo Daniele De Siati, Paolo Gasparini, Giorgia Girotto, Margriet Verstreken, Silvia Dossena, Sebastian Roesch, Saba Battelino, Katarina Trebušak Podkrajšek, Athanasia Warnecke, Thomas Lenarz, Anke Lesinski-Schiedat, Michel Mondain, Anne-Françoise Roux, Françoise Denoyelle, Natalie Loundon, Margaux Serey Gaut, Patrizia Trevisi, Elisa Rubinato, Alessandro Martini and Sandrine Marlinadd Show full author list remove Hide full author list
Audiol. Res. 2023, 13(3), 341-346; https://doi.org/10.3390/audiolres13030029 - 10 May 2023
Cited by 4 | Viewed by 2147
Abstract
The cause of childhood hearing impairment (excluding infectious pathology of the middle ear) can be extrinsic (embryofoetopathy, meningitis, trauma, drug ototoxicity, noise trauma, etc [...] Full article
(This article belongs to the Special Issue Genetics of Hearing Loss—Volume II)

Research

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17 pages, 1753 KiB  
Article
Waardenburg Syndrome: The Contribution of Next-Generation Sequencing to the Identification of Novel Causative Variants
by William Bertani-Torres, Karina Lezirovitz, Danillo Alencar-Coutinho, Eliete Pardono, Silvia Souza da Costa, Larissa do Nascimento Antunes, Judite de Oliveira, Paulo Alberto Otto, Véronique Pingault and Regina Célia Mingroni-Netto
Audiol. Res. 2024, 14(1), 9-25; https://doi.org/10.3390/audiolres14010002 - 21 Dec 2023
Cited by 1 | Viewed by 1935
Abstract
Waardenburg syndrome (WS) is characterized by hearing loss and pigmentary abnormalities of the eyes, hair, and skin. The condition is genetically heterogeneous, and is classified into four clinical types differentiated by the presence of dystopia canthorum in type 1 and its absence in [...] Read more.
Waardenburg syndrome (WS) is characterized by hearing loss and pigmentary abnormalities of the eyes, hair, and skin. The condition is genetically heterogeneous, and is classified into four clinical types differentiated by the presence of dystopia canthorum in type 1 and its absence in type 2. Additionally, limb musculoskeletal abnormalities and Hirschsprung disease differentiate types 3 and 4, respectively. Genes PAX3, MITF, SOX10, KITLG, EDNRB, and EDN3 are already known to be associated with WS. In WS, a certain degree of molecularly undetected patients remains, especially in type 2. This study aims to pinpoint causative variants using different NGS approaches in a cohort of 26 Brazilian probands with possible/probable diagnosis of WS1 (8) or WS2 (18). DNA from the patients was first analyzed by exome sequencing. Seven of these families were submitted to trio analysis. For inconclusive cases, we applied a targeted NGS panel targeting WS/neurocristopathies genes. Causative variants were detected in 20 of the 26 probands analyzed, these being five in PAX3, eight in MITF, two in SOX10, four in EDNRB, and one in ACTG1 (type 2 Baraitser-Winter syndrome, BWS2). In conclusion, in our cohort of patients, the detection rate of the causative variant was 77%, confirming the superior detection power of NGS in genetically heterogeneous diseases. Full article
(This article belongs to the Special Issue Genetics of Hearing Loss—Volume II)
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Review

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10 pages, 237 KiB  
Review
Navigating the Usher Syndrome Genetic Landscape: An Evaluation of the Associations between Specific Genes and Quality Categories of Cochlear Implant Outcomes
by Micol Busi and Alessandro Castiglione
Audiol. Res. 2024, 14(2), 254-263; https://doi.org/10.3390/audiolres14020023 - 26 Feb 2024
Viewed by 1998
Abstract
Usher syndrome (US) is a clinically and genetically heterogeneous disorder that involves three main features: sensorineural hearing loss, retinitis pigmentosa (RP), and vestibular impairment. With a prevalence of 4–17/100,000, it is the most common cause of deaf-blindness worldwide. Genetic research has provided crucial [...] Read more.
Usher syndrome (US) is a clinically and genetically heterogeneous disorder that involves three main features: sensorineural hearing loss, retinitis pigmentosa (RP), and vestibular impairment. With a prevalence of 4–17/100,000, it is the most common cause of deaf-blindness worldwide. Genetic research has provided crucial insights into the complexity of US. Among nine confirmed causative genes, MYO7A and USH2A are major players in US types 1 and 2, respectively, whereas CRLN1 is the sole confirmed gene associated with type 3. Variants in these genes also contribute to isolated forms of hearing loss and RP, indicating intersecting molecular pathways. While hearing loss can be adequately managed with hearing aids or cochlear implants (CIs), approved RP treatment modalities are lacking. Gene replacement and editing, antisense oligonucleotides, and small-molecule drugs hold promise for halting RP progression and restoring vision, enhancing patients’ quality of life. Massively parallel sequencing has identified gene variants (e.g., in PCDH15) that influence CI results. Accordingly, preoperative genetic examination appears valuable for predicting CI success. To explore genetic mutations in CI recipients and establish correlations between implant outcomes and involved genes, we comprehensively reviewed the literature to gather data covering a broad spectrum of CI outcomes across all known US-causative genes. Implant outcomes were categorized as excellent or very good, good, poor or fair, and very poor. Our review of 95 cochlear-implant patients with US, along with their CI outcomes, revealed the importance of presurgical genetic testing to elucidate potential challenges and provide tailored counseling to improve auditory outcomes. The multifaceted nature of US demands a comprehensive understanding and innovative interventions. Genetic insights drive therapeutic advancements, offering potential remedies for the retinal component of US. The synergy between genetics and therapeutics holds promise for individuals with US and may enhance their sensory experiences through customized interventions. Full article
(This article belongs to the Special Issue Genetics of Hearing Loss—Volume II)
15 pages, 454 KiB  
Review
Autosomal Recessive Non-Syndromic Deafness: Is AAV Gene Therapy a Real Chance?
by Davide Brotto, Marco Greggio, Cosimo De Filippis and Patrizia Trevisi
Audiol. Res. 2024, 14(2), 239-253; https://doi.org/10.3390/audiolres14020022 - 22 Feb 2024
Viewed by 2466
Abstract
The etiology of sensorineural hearing loss is heavily influenced by genetic mutations, with approximately 80% of cases attributed to genetic causes and only 20% to environmental factors. Over 100 non-syndromic deafness genes have been identified in humans thus far. In non-syndromic sensorineural hearing [...] Read more.
The etiology of sensorineural hearing loss is heavily influenced by genetic mutations, with approximately 80% of cases attributed to genetic causes and only 20% to environmental factors. Over 100 non-syndromic deafness genes have been identified in humans thus far. In non-syndromic sensorineural hearing impairment, around 75–85% of cases follow an autosomal recessive inheritance pattern. In recent years, groundbreaking advancements in molecular gene therapy for inner-ear disorders have shown promising results. Experimental studies have demonstrated improvements in hearing following a single local injection of adeno-associated virus-derived vectors carrying an additional normal gene or using ribozymes to modify the genome. These pioneering approaches have opened new possibilities for potential therapeutic interventions. Following the PRISMA criteria, we summarized the AAV gene therapy experiments showing hearing improvement in the preclinical phases of development in different animal models of DFNB deafness and the AAV gene therapy programs currently in clinical phases targeting autosomal recessive non syndromic hearing loss. A total of 17 preclinical studies and 3 clinical studies were found and listed. Despite the hurdles, there have been significant breakthroughs in the path of HL gene therapy, holding great potential for providing patients with novel and effective treatment. Full article
(This article belongs to the Special Issue Genetics of Hearing Loss—Volume II)
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13 pages, 565 KiB  
Review
The Inheritance of Hearing Loss and Deafness: A Historical Perspective
by Alessandro Martini, Andrea Cozza and Valerio Maria Di Pasquale Fiasca
Audiol. Res. 2024, 14(1), 116-128; https://doi.org/10.3390/audiolres14010010 - 26 Jan 2024
Cited by 1 | Viewed by 2391
Abstract
If the term “genetics” is a relatively recent proposition, introduced in 1905 by English biologist William Bateson, who rediscovered and spread in the scientific community Mendel’s principles of inheritance, since the dawn of human civilization the influence of heredity has been recognized, especially [...] Read more.
If the term “genetics” is a relatively recent proposition, introduced in 1905 by English biologist William Bateson, who rediscovered and spread in the scientific community Mendel’s principles of inheritance, since the dawn of human civilization the influence of heredity has been recognized, especially in agricultural crops and animal breeding. And, later, in familial dynasties. In this concise review, we outline the evolution of the idea of hereditary hearing loss, up to the current knowledge of molecular genetics and epigenetics. Full article
(This article belongs to the Special Issue Genetics of Hearing Loss—Volume II)
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15 pages, 1524 KiB  
Review
Gene Therapy for Inherited Hearing Loss: Updates and Remaining Challenges
by Roni Hahn and Karen B. Avraham
Audiol. Res. 2023, 13(6), 952-966; https://doi.org/10.3390/audiolres13060083 - 4 Dec 2023
Cited by 7 | Viewed by 4047
Abstract
Hearing loss stands as the most prevalent sensory deficit among humans, posing a significant global health challenge. Projections indicate that by 2050, approximately 10% of the world’s population will grapple with disabling hearing impairment. While approximately half of congenital hearing loss cases have [...] Read more.
Hearing loss stands as the most prevalent sensory deficit among humans, posing a significant global health challenge. Projections indicate that by 2050, approximately 10% of the world’s population will grapple with disabling hearing impairment. While approximately half of congenital hearing loss cases have a genetic etiology, traditional interventions such as hearing aids and cochlear implants do not completely restore normal hearing. The absence of biological treatment has prompted significant efforts in recent years, with a strong focus on gene therapy to address hereditary hearing loss. Although several studies have exhibited promising recovery from common forms of genetic deafness in mouse models, existing challenges must be overcome to make gene therapy applicable in the near future. Herein, we summarize the primary gene therapy strategies employed over past years, provide an overview of the recent achievements in preclinical studies for genetic hearing loss, and outline the current key obstacles to cochlear gene therapy. Full article
(This article belongs to the Special Issue Genetics of Hearing Loss—Volume II)
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Other

7 pages, 630 KiB  
Case Report
Which Came First? When Usher Syndrome Type 1 Couples with Neuropsychiatric Disorders
by Paola Tesolin, Aurora Santin, Anna Morgan, Stefania Lenarduzzi, Elisa Rubinato, Giorgia Girotto and Beatrice Spedicati
Audiol. Res. 2023, 13(6), 989-995; https://doi.org/10.3390/audiolres13060086 - 11 Dec 2023
Cited by 1 | Viewed by 1366
Abstract
Usher syndrome (USH) is an autosomal recessive disorder characterized by sensorineural hearing loss (HL), retinopathy, and vestibular areflexia, with variable severity. Although a high prevalence of behavioural and mental disorders in USH patients has been reported, few studies on these psychiatric and psychological [...] Read more.
Usher syndrome (USH) is an autosomal recessive disorder characterized by sensorineural hearing loss (HL), retinopathy, and vestibular areflexia, with variable severity. Although a high prevalence of behavioural and mental disorders in USH patients has been reported, few studies on these psychiatric and psychological issues have been conducted. This work describes the case of a 16-year-old boy affected by congenital bilateral sensorineural HL, presenting a suddenly altered behaviour concomitant with a decrease in visual acuity. To establish a molecular diagnosis, Whole-Exome Sequencing analysis was performed, detecting a pathogenetic homozygous variant (c. 5985C>A, p.(Tyr1995*)) within the CDH23 gene. CDH23 is a known USH type 1 causative gene, recently associated with schizophrenia-like symptoms and bipolar disorders. To date, no studies have provided evidence of a direct genotype–phenotype correlation between USH patients carrying CDH23 variants and mental/behavioural issues; however, considering the multiple biological functions of CDH23, it can be hypothesised that it could have a pleiotropic effect. Overall, this study highlights the relevance of a continuous clinical evaluation of USH patients, to monitor not only the disease progression, but to early detect any psychological or behavioural alterations, thus allowing a rapid implementation of therapeutic strategies aimed at improving their quality of life and well-being. Full article
(This article belongs to the Special Issue Genetics of Hearing Loss—Volume II)
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