Special Issue "Genetic Epidemiology of Deafness"

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 (1 August 2019).

Special Issue Editors

Guest Editor
Prof. Shin-ichi Usami Website E-Mail
Department of Otorhinolaryngology, Shinshu University School of Medicine, Matsumoto, Japan
Interests: hearing; cochlear implantation; molecular genetics; genetic testing; phylogenetics
Guest Editor
Prof. Karen B. Avraham Website E-Mail
Department of Human Molecular Genetics and Biochemistry, Sackler Faculty of Medicine, Tel Aviv University, Israel
Interests: deafness; inner ear; genetics; transcriptome; microRNAs; lncRNAs; methylation
Guest Editor
Prof. Richard J. H. Smith Website E-Mail
Department of Otolaryngology, University of Iowa Hospitals and Clinics, Iowa City, IA, USA
Interests: human genetics; deafness; gene therapy

Special Issue Information

Hearing impairment is a disorder with high genetic heterogeneity, and over the past two decades extreme progress has been made in identifying many different responsible genes. The identification of deafness-causing genes has shed light on the biology of hearing and genetic testing has become an indispensable diagnostic tool for personalized therapeutic intervention for deafness patients.

Knowledge of genomic variations responsible for deafness has been accumulated through extensive sequencing data using next-generation sequencing.

To date, more than one hundred deafness genes have been identified, and the genetic epidemiology of deafness has become clearer. This special issue is a collection of excellent papers providing an overview of current knowledge on 1) genetic epidemiology, 2) different mutation spectra based on different ethnic backgrounds, 3) haplotype analysis of particular deafness-causing genes, 4) origins of gene mutations and human migration, 5) case reports or case series associated with ethnic specific gene mutations (a description that it is ethnic-specific with respect to that mutation is necessary), 6) genetic background of patients receiving cochlear implantation, and 7) mutation screening strategies based on ethnicity.

Prof. Shin-ichi Usami
Prof. Karen B. Avraham
Prof. Richard J. H. Smith
Guest Editors

Manuscript Submission Information

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Keywords

  • Deafness
  • Mutation spectrum
  • Epidemiology
  • Ethnicity
  • Recurrent mutation
  • Haplotype analysis
  • Common ancestor
  • Next generation sequencing
  • Mutation screening
  • Cochlear implantation

Published Papers (4 papers)

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Research

Open AccessArticle
Mid-Frequency Hearing Loss Is Characteristic Clinical Feature of OTOA-Associated Hearing Loss
Genes 2019, 10(9), 715; https://doi.org/10.3390/genes10090715 - 16 Sep 2019
Abstract
The OTOA gene (Locus: DFNB22) is reported to be one of the causative genes for non-syndromic autosomal recessive hearing loss. The copy number variations (CNVs) identified in this gene are also known to cause hearing loss, but have not been identified in Japanese [...] Read more.
The OTOA gene (Locus: DFNB22) is reported to be one of the causative genes for non-syndromic autosomal recessive hearing loss. The copy number variations (CNVs) identified in this gene are also known to cause hearing loss, but have not been identified in Japanese patients with hearing loss. Furthermore, the clinical features of OTOA-associated hearing loss have not yet been clarified. In this study, we performed CNV analyses of a large Japanese hearing loss cohort, and identified CNVs in 234 of 2262 (10.3%, 234/2262) patients with autosomal recessive hearing loss. Among the identified CNVs, OTOA gene-related CNVs were the second most frequent (0.6%, 14/2262). Among the 14 cases, 2 individuals carried OTOA homozygous deletions, 4 carried heterozygous deletions with single nucleotide variants (SNVs) in another allele. Additionally, 1 individual with homozygous SNVs in the OTOA gene was also identified. Finally, we identified 7 probands with OTOA-associated hearing loss, so that its prevalence in Japanese patients with autosomal recessive hearing loss was calculated to be 0.3% (7/2262). As novel clinical features identified in this study, the audiometric configurations of patients with OTOA-associated hearing loss were found to be mid-frequency. This is the first study focused on the detailed clinical features of hearing loss caused by this gene mutation and/or gene deletion. Full article
(This article belongs to the Special Issue Genetic Epidemiology of Deafness)
Open AccessArticle
Identification of Main Genetic Causes Responsible for Non-Syndromic Hearing Loss in a Peruvian Population
Genes 2019, 10(8), 581; https://doi.org/10.3390/genes10080581 - 31 Jul 2019
Abstract
Hearing loss (HL) is a common sensory disorder affecting over 5% of the global population. The etiology underlying HL includes congenital and acquired causes; genetic factors are the main cause in over 50% of congenital cases. Pathogenic variants in the GJB2 gene are [...] Read more.
Hearing loss (HL) is a common sensory disorder affecting over 5% of the global population. The etiology underlying HL includes congenital and acquired causes; genetic factors are the main cause in over 50% of congenital cases. Pathogenic variants in the GJB2 gene are a major cause of congenital non-syndromic hearing loss (NSHL), while their distribution is highly heterogeneous in different populations. To the best of our knowledge, there is no data regarding the genetic etiologies of HL in Peru. In this study, we screened 133 Peruvian families with NSHL living in Lima. We sequenced both exons of the GJB2 gene for all probands. Seven probands with familial NSHL that remained negative for GJB2 variants underwent whole genome sequencing (WGS). We identified biallelic pathogenic variants in GJB2 in 43 probands; seven were heterozygous for only one allele. The c.427C>T variant was the most common pathogenic variant followed by the c.35delG variant. WGS revealed three novel variants in MYO15A in two probands, one of them was predicted to affect splicing and the others produce a premature stop codon. The Peruvian population showed a complex profile for genetic variants in the GJB2 gene, this particular profile might be a consequence of the admixture history in Peru. Full article
(This article belongs to the Special Issue Genetic Epidemiology of Deafness)
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Open AccessArticle
Three New Mutations and Mild, Asymmetrical Phenotype in the Highly Distinctive LAMM Syndrome: A Report of Eight Further Cases
Genes 2019, 10(7), 529; https://doi.org/10.3390/genes10070529 - 12 Jul 2019
Abstract
Labyrinthine aplasia, microtia, and microdontia (LAMM) is an autosomal recessive condition causing profound congenital deafness, complete absence of inner ear structures (usually Michel’s aplasia), microtia (usually type 1) and microdontia. To date, several families have been described with this condition and a number [...] Read more.
Labyrinthine aplasia, microtia, and microdontia (LAMM) is an autosomal recessive condition causing profound congenital deafness, complete absence of inner ear structures (usually Michel’s aplasia), microtia (usually type 1) and microdontia. To date, several families have been described with this condition and a number of mutations has been reported. We report on eight further cases of LAMM syndrome including three novel mutations, c. 173T>C p.L58P; c. 284G>A p.(Arg95Gln) and c.325_327delinsA p.(Glu109Thrfs*18). Congenital deafness was the primary presenting feature in all affected individuals and consanguinity in all but two families. We compare the features in our patients to those previously reported in LAMM, and describe a milder, asymmetrical phenotype associated with FGF3 mutations. Full article
(This article belongs to the Special Issue Genetic Epidemiology of Deafness)
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Open AccessArticle
Unique Mutational Spectrum of the GJB2 Gene and Its Pathogenic Contribution to Deafness in Tuvinians (Southern Siberia, Russia): A High Prevalence of Rare Variant c.516G>C (p.Trp172Cys)
Genes 2019, 10(6), 429; https://doi.org/10.3390/genes10060429 - 05 Jun 2019
Abstract
Mutations in the GJB2 gene are the main cause for nonsyndromic autosomal recessive deafness 1A (DFNB1A) in many populations. GJB2 mutational spectrum and pathogenic contribution are widely varying in different populations. Significant efforts have been made worldwide to define DFNB1A molecular epidemiology, but [...] Read more.
Mutations in the GJB2 gene are the main cause for nonsyndromic autosomal recessive deafness 1A (DFNB1A) in many populations. GJB2 mutational spectrum and pathogenic contribution are widely varying in different populations. Significant efforts have been made worldwide to define DFNB1A molecular epidemiology, but this issue still remains open for some populations. The main aim of study is to estimate the DFNB1A prevalence and GJB2 mutational spectrum in Tuvinians—an indigenous population of the Tyva Republic (Southern Siberia, Russia). Sanger sequencing was applied to analysis of coding (exon 2) and non-coding regions of GJB2 in a cohort of Tuvinian patients with hearing impairments (n = 220) and ethnically matched controls (n = 157). Diagnosis of DFNB1A was established for 22.3% patients (28.8% of familial vs 18.6% of sporadic cases). Our results support that patients with monoallelic GJB2 mutations (8.2%) are coincidental carriers. Recessive mutations p.Trp172Cys, c.-23+1G>A, c.235delC, c.299_300delAT, p.Val37Ile and several benign variants were found in examined patients. A striking finding was a high prevalence of rare variant p.Trp172Cys (c.516G>C) in Tuvinians accounting for 62.9% of all mutant GJB2 alleles and a carrier frequency of 3.8% in controls. All obtained data provide important targeted information for genetic counseling of affected Tuvinian families and enrich current information on variability of GJB2 worldwide. Full article
(This article belongs to the Special Issue Genetic Epidemiology of Deafness)
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