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Genetic Epidemiology of Deafness

This special issue belongs to the section “Human Genomics and Genetic Diseases“.

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

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 250 words) can be sent to the Editorial Office for assessment.

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

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

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Genes - ISSN 2073-4425