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Genetics of Deafness, from Diagnostics, Prognostics to Therapeutics
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Genetics of Deafness, from Diagnostics, Prognostics to Therapeutics

A special issue of Genes (ISSN 2073-4425). This special issue belongs to the section "Human Genomics and Genetic Diseases".

Deadline for manuscript submissions: closed (20 September 2023) | Viewed by 3587

Special Issue Editors

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; minimally invasive ear surgery
Prof. Dr. Byung Yoon Choi

E-Mail Website
Guest Editor
Seoul National University Bundang Hospital, College of Medicine, Seoul National University, Seoul, Republic of Korea
Interests: genetic hearing loss; deafness genes; cochlear implantation; pediatric otology

Special Issue Information

Dear Colleagues,

Hearing impairments are the most common inherited sensory disorders. The World Health Organization (WHO) estimates that ~3,400 children worldwide experience disabling hearing impairment, for which genetic factors are the predominant cause. Despite these staggering statistics, the diagnostics and prognostics remain suboptimal in clinical practice, and available therapies are severely limited.

In this Special Issue, we aim to provide a platform for all aspects of diagnostic, prognostic, and therapeutic research into the genetics of hearing impairment. We would like to invite scientists to submit manuscripts that focus on the application of next-generation sequencing technologies and bioinformatics analyses to diagnostics, the identification of outcome measures and biomarkers for the prognostics, and the optimization of gene therapy and drug delivery methods for therapeutics. Contributions in the format of original research papers and review manuscripts will both be welcome in this Special Issue.

Prof. Dr. Chen-Chi Wu
Prof. Dr. Byung Yoon Choi
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. Genes 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 loss
  • next-generation sequencing
  • long-read sequencing
  • biomarkers and outcome measures
  • gene therapy

Published Papers (2 papers)

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Research

12 pages, 7950 KiB  
Article
Revisiting Genetic Epidemiology with a Refined Targeted Gene Panel for Hereditary Hearing Impairment in the Taiwanese Population
by Yen-Hui Lee, Cheng-Yu Tsai, Yue-Sheng Lu, Pei-Hsuan Lin, Yu-Ting Chiang, Ting-Hua Yang, Jacob Shu-Jui Hsu, Chuan-Jen Hsu, Pei-Lung Chen, Tien-Chen Liu and Chen-Chi Wu
Genes 2023, 14(4), 880; https://doi.org/10.3390/genes14040880 - 07 Apr 2023
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Abstract
Hearing impairment is one of the most common sensory disorders in children, and targeted next-generation sequencing (NGS)-based genetic examinations can assist in its prognostication and management. In 2020, we developed a simplified 30-gene NGS panel from the original 214-gene NGS version based on [...] Read more.
Hearing impairment is one of the most common sensory disorders in children, and targeted next-generation sequencing (NGS)-based genetic examinations can assist in its prognostication and management. In 2020, we developed a simplified 30-gene NGS panel from the original 214-gene NGS version based on Taiwanese genetic epidemiology data to increase the accessibility of NGS-based examinations. In this study, we evaluated the diagnostic performance of the 30-gene NGS panel and compared it with that of the original 214-gene NGS panel in patient subgroups with different clinical features. Data on the clinical features, genetic etiologies, audiological profiles, and outcomes were collected from 350 patients who underwent NGS-based genetic examinations for idiopathic bilateral sensorineural hearing impairment between 2020 and 2022. The overall diagnostic yield was 52%, with slight differences in genetic etiology between patients with different degrees of hearing impairment and ages of onset. No significant difference was found in the diagnostic yields between the two panels, regardless of clinical features, except for a lower detection rate of the 30-gene panel in the late-onset group. For patients with negative genetic results, where the causative variant is undetectable on current NGS-based methods, part of the negative results may be due to genes not covered by the panel or yet to be identified. In such cases, the hearing prognosis varies and may decline over time, necessitating appropriate follow-up and consultation. In conclusion, genetic etiologies can serve as references for refining targeted NGS panels with satisfactory diagnostic performance. Full article
(This article belongs to the Special Issue Genetics of Deafness, from Diagnostics, Prognostics to Therapeutics)
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13 pages, 639 KiB  
Article
Non-Syndromic Hearing Loss in a Romanian Population: Carrier Status and Frequent Variants in the GJB2 Gene
by Anca-Lelia Riza, Camelia Alkhzouz, Marius Farcaș, Andrei Pîrvu, Diana Miclea, Gheorghe Mihuț, Răzvan-Mihail Pleșea, Delia Ștefan, Mihaela Drodar, Călin Lazăr, on behalf of the HINT Study, on behalf of the FUSE Study, Mihai Ioana and Radu Popp
Genes 2023, 14(1), 69; https://doi.org/10.3390/genes14010069 - 26 Dec 2022
Cited by 2 | Viewed by 1546
Abstract
The genetic causes of autosomal recessive nonsyndromic hearing loss (ARNSHL) are heterogeneous and highly ethnic-specific. We describe GJB2 (connexin 26) variants and carrier frequencies as part of our study and summarize previously reported ones for the Romanian population. In total, 284 unrelated children [...] Read more.
The genetic causes of autosomal recessive nonsyndromic hearing loss (ARNSHL) are heterogeneous and highly ethnic-specific. We describe GJB2 (connexin 26) variants and carrier frequencies as part of our study and summarize previously reported ones for the Romanian population. In total, 284 unrelated children with bilateral congenital NSHL were enrolled between 2009 and 2018 in northwestern Romania. A tiered diagnostic approach was used: all subjects were tested for c.35delG, c.71G>A and deletions in GJB6 (connexin 30) using PCR-based methods. Furthermore, 124 cases undiagnosed at this stage were analyzed by multiplex-ligation-dependent probe amplifications (MLPA), probe mix P163, and sequencing of GJB2 exon 2. Targeted allele-specific PCR/restriction fragment length polymorphism (RFLP) established definite ethio-pathogenical diagnosis for 72/284 (25.35%) of the cohort. Out of the 124 further analyzed, in 12 cases (9.67%), we found compound heterozygous point mutations in GJB2. We identified one case of deletion of exon 1 of the WFS1 (wolframin) gene. Carrier status evaluation used Illumina Infinium Global Screening Array (GSA) genotyping: the HINT cohort-416 individuals in northwest Romania, and the FUSE cohort-472 individuals in southwest Romania. GSA variants yielded a cumulated risk allele presence of 0.0284. A tiered diagnostic approach may be efficient in diagnosing ARNSHL. The summarized contributions to Romanian descriptive epidemiology of ARNSHL shows that pathogenic variants in the GJB2 gene are frequent among NSHL cases and have high carrier rates, especially for c.35delG and c.71G>A. These findings may serve in health strategy development. Full article
(This article belongs to the Special Issue Genetics of Deafness, from Diagnostics, Prognostics to Therapeutics)
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