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New Advances in Genetic Research on Hearing Loss
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New Advances in Genetic Research on Hearing Loss

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

Deadline for manuscript submissions: closed (10 December 2023) | Viewed by 7141

Special Issue Editor

Dr. Olga L. Posukh

E-Mail Website
Guest Editor
Federal Research Center Institute of Cytology and Genetics, Siberian Branch of Russian Academy of Sciences, Lavrentyeva 10, 630090 Novosibirsk, Russia
Interests: human genetics; genetics of hearing loss; genetic epidemiology of hearing loss; genetic variants; genetic diagnosis

Special Issue Information

Dear Colleagues,

Extremely high locus/allelic heterogeneity is a special feature of hereditary hearing loss (HL). Many different pathogenic variants in over 200 genes involved in hearing function can lead to hearing impairment, although the definitive number of “deafness genes” does not appear to be elucidated. Various diagnostic strategies are currently used to search for genetic variants associated with HL, including a targeted screening for one or more already known mutations, different multistep hierarchical screens specifically designed for a particular population or region, and high-throughput sequencing. Each of these approaches has its own advantages and limitations, which result in a varying diagnostic rate in different populations. High-throughput sequencing provides the best opportunity to reveal novel variants in already known or candidate “deafness genes”, but their causality must be exhaustively confirmed. Understanding the genetic causes and molecular mechanisms of HL, knowledge of genotype–phenotype correlations, and region-specific landscapes of genetic HL are valuable for the genetic diagnosis of patients, counseling of affected families, and local healthcare, as well as for common understanding of the prevalence of hereditary HL worldwide.

The Special Issue on “New Advances in Genetic Research on Hearing Loss” aims to gather original articles and reviews reflecting the latest advances in various fields of genetic research on hereditary hearing loss, which will help to shed light on many intriguing aspects of this disease.

Dr. Olga L. Posukh
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. 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

  • genetics of hearing loss
  • genotype–phenotype correlation
  • genetic epidemiology of hearing loss
  • gene identification
  • genetic variants
  • mutation screening
  • high-throughput sequencing
  • genetic diagnosis

Published Papers (4 papers)

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Research

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14 pages, 2177 KiB  
Article
The GJB2 (Cx26) Gene Variants in Patients with Hearing Impairment in the Baikal Lake Region (Russia)
by Vera G. Pshennikova, Fedor M. Teryutin, Alexandra M. Cherdonova, Tuyara V. Borisova, Aisen V. Solovyev, Georgii P. Romanov, Igor V. Morozov, Alexander A. Bondar, Olga L. Posukh, Sardana A. Fedorova and Nikolay A. Barashkov
Genes 2023, 14(5), 1001; https://doi.org/10.3390/genes14051001 - 28 Apr 2023
Cited by 1 | Viewed by 1474
Abstract
The GJB2 (Cx26) gene pathogenic variants are associated with autosomal recessive deafness type 1A (DFNB1A, OMIM #220290). Direct sequencing of the GJB2 gene among 165 hearing-impaired individuals living in the Baikal Lake region of Russia identified 14 allelic variants: pathogenic/likely pathogenic—nine variants, benign—three [...] Read more.
The GJB2 (Cx26) gene pathogenic variants are associated with autosomal recessive deafness type 1A (DFNB1A, OMIM #220290). Direct sequencing of the GJB2 gene among 165 hearing-impaired individuals living in the Baikal Lake region of Russia identified 14 allelic variants: pathogenic/likely pathogenic—nine variants, benign—three variants, unclassified—one variant, and one novel variant. The contribution of the GJB2 gene variants to the etiology of hearing impairment (HI) in the total sample of patients was 15.8% (26 out of 165) and significantly differed in patients of different ethnicity (5.1% in Buryat patients and 28.9% in Russian patients). In patients with DFNB1A (n = 26), HIs were congenital/early onset (92.3%), symmetric (88.5%), sensorineural (100.0%), and variable in severity (moderate—11.6%, severe—26.9% or profound—61.5%). The reconstruction of the SNP haplotypes with three frequent GJB2 pathogenic variants (c.-23+1G>A, c.35delG or c.235delC), in comparison with previously published data, supports a major role of the founder effect in the expansion of the c.-23+1G>A and c.35delG variants around the world. Comparative analysis of the haplotypes with c.235delC revealed one major haplotype G A C T (97.5%) in Eastern Asians (Chinese, Japanese and Korean patients) and two haplotypes, G A C T (71.4%) and G A C C (28.6%), in Northern Asians (Altaians, Buryats and Mongols). The variable structure of the c.235delC-haplotypes in Northern Asians requires more studies to expand our knowledge about the origin of this pathogenic variant. Full article
(This article belongs to the Special Issue New Advances in Genetic Research on Hearing Loss)
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17 pages, 3138 KiB  
Article
Childhood Hearing Impairment in Senegal
by Yacouba Dia, Birame Loum, Yaay Joor Koddu Biigé Dieng, Jean Pascal Demba Diop, Samuel Mawuli Adadey, Elvis Twumasi Aboagye, Seydi Abdoul Ba, Abdoul Aziz Touré, Fallou Niang, Pierre Diaga Sarr, Cheikh Ahmed Tidiane Ly, Andrea Regina Gnilane Sène, Carmen De Kock, Rhiyana Bassier, Kalinka Popel, Rokhaya Ndiaye Diallo, Ambroise Wonkam and Bay Karim Diallo
Genes 2023, 14(3), 562; https://doi.org/10.3390/genes14030562 - 23 Feb 2023
Viewed by 1799
Abstract
We recently showed that variants in GJB2 explained Hearing Impairment (HI) in 34.1% (n = 15/44) of multiplex families in Senegal. The present study aimed to use community-based nationwide recruitment to determine the etiologies and the clinical profiles of childhood HI in [...] Read more.
We recently showed that variants in GJB2 explained Hearing Impairment (HI) in 34.1% (n = 15/44) of multiplex families in Senegal. The present study aimed to use community-based nationwide recruitment to determine the etiologies and the clinical profiles of childhood HI in Senegal. Participants with early onset HI were included after clinical examination, including audiological assessment by pure tone audiometry and/or auditory brainstem response. We investigated a total of 406 participants from 295 families, recruited from 13/14 administrative regions of Senegal. Male/female ratio was 1.33 (232/174). Prelingual HI was the most common type of HI and accounted for 80% (n = 325 individuals). The mean age at medical diagnosis for congenital HI was computed at 3.59 ± 2.27 years. Audiological evaluation showed sensorineural HI as the most frequently observed HI (89.16%; n = 362 individuals). Pedigree analysis suggested autosomal recessive inheritance in 61.2% (63/103) of multiplex families and sporadic cases in 27 families (26.2%; 27/103), with a consanguinity rate estimated at 93% (84/90 families). Genetic factors were likely involved in 52.7% (214/406) of the cases, followed by environmental causes (29.57%; 120/406). In 72 cases (17.73%), the etiology was unknown. Clinically, non-syndromic HI was the most common type of HI (90.6%; n = 194/214 individuals). Among families segregating syndromic cases, type 2 Waardenburg syndrome was the most common (36.3%; 4/11 families). This study revealed putative genetic factors, mostly associated with high consanguinity rate, as the leading causes of early-onset HI in Senegal. The high consanguinity could provide a good opportunity to identify variants in known and novel genes involved in childhood HI. Full article
(This article belongs to the Special Issue New Advances in Genetic Research on Hearing Loss)
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Review

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16 pages, 1451 KiB  
Review
Hearing Loss: Genetic Testing, Current Advances and the Situation in Latin America
by Maria Agustina De Rosa, Maria T. Bernardi, Soledad Kleppe and Katherina Walz
Genes 2024, 15(2), 178; https://doi.org/10.3390/genes15020178 - 29 Jan 2024
Viewed by 1126
Abstract
Congenital hearing loss is the most common birth defect, estimated to affect 2–3 in every 1000 births, with ~50–60% of those related to genetic causes. Technological advances enabled the identification of hundreds of genes related to hearing loss (HL), with important implications for [...] Read more.
Congenital hearing loss is the most common birth defect, estimated to affect 2–3 in every 1000 births, with ~50–60% of those related to genetic causes. Technological advances enabled the identification of hundreds of genes related to hearing loss (HL), with important implications for patients, their families, and the community. Despite these advances, in Latin America, the population with hearing loss remains underdiagnosed, with most studies focusing on a single locus encompassing the GJB2/GJB6 genes. Here we discuss how current and emerging genetic knowledge has the potential to alter the approach to diagnosis and management of hearing loss, which is the current situation in Latin America, and the barriers that still need to be overcome. Full article
(This article belongs to the Special Issue New Advances in Genetic Research on Hearing Loss)
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Other

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21 pages, 2333 KiB  
Systematic Review
Global Distribution of Founder Variants Associated with Non-Syndromic Hearing Impairment
by Elvis Twumasi Aboagye, Samuel Mawuli Adadey, Edmond Wonkam-Tingang, Lucas Amenga-Etego, Gordon A. Awandare and Ambroise Wonkam
Genes 2023, 14(2), 399; https://doi.org/10.3390/genes14020399 - 03 Feb 2023
Cited by 5 | Viewed by 1901
Abstract
The genetic etiology of non-syndromic hearing impairment (NSHI) is highly heterogeneous with over 124 distinct genes identified. The wide spectrum of implicated genes has challenged the implementation of molecular diagnosis with equal clinical validity in all settings. Differential frequencies of allelic variants in [...] Read more.
The genetic etiology of non-syndromic hearing impairment (NSHI) is highly heterogeneous with over 124 distinct genes identified. The wide spectrum of implicated genes has challenged the implementation of molecular diagnosis with equal clinical validity in all settings. Differential frequencies of allelic variants in the most common NSHI causal gene, gap junction beta 2 (GJB2), has been described as stemming from the segregation of a founder variant and/or spontaneous germline variant hot spots. We aimed to systematically review the global distribution and provenance of founder variants associated with NSHI. The study protocol was registered on PROSPERO, the International Prospective Register of Systematic Reviews, with the registration number “CRD42020198573”. Data from 52 reports, involving 27,959 study participants from 24 countries, reporting 56 founder pathogenic or likely pathogenic (P/LP) variants in 14 genes (GJB2, GJB6, GSDME, TMC1, TMIE, TMPRSS3, KCNQ4, PJVK, OTOF, EYA4, MYO15A, PDZD7, CLDN14, and CDH23), were reviewed. Varied number short tandem repeats (STRs) and single nucleotide polymorphisms (SNPs) were used for haplotype analysis to identify the shared ancestral informative markers in a linkage disequilibrium and variants’ origins, age estimates, and common ancestry computations in the reviewed reports. Asia recorded the highest number of NSHI founder variants (85.7%; 48/56), with variants in all 14 genes, followed by Europe (16.1%; 9/56). GJB2 had the highest number of ethnic-specific P/LP founder variants. This review reports on the global distribution of NSHI founder variants and relates their evolution to population migration history, bottleneck events, and demographic changes in populations linked with the early evolution of deleterious founder alleles. International migration and regional and cultural intermarriage, coupled to rapid population growth, may have contributed to re-shaping the genetic architecture and structural dynamics of populations segregating these pathogenic founder variants. We have highlighted and showed the paucity of data on hearing impairment (HI) variants in Africa, establishing unexplored opportunities in genetic traits. Full article
(This article belongs to the Special Issue New Advances in Genetic Research on Hearing Loss)
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