Home / Journals International Journal of Otorhinolaryngology / Gene Mutations and Hereditary Hearing Loss
Gene Mutations and Hereditary Hearing Loss
Submission DeadlineFeb. 20, 2020

Submission Guidelines: http://www.sciencepublishinggroup.com/home/submission

Lead Guest Editor
Mahbobeh Koohiyan
Cancer Research Center, Shahrekord University of Medical Sciences, Shahrekord, Iran
Guest Editors
  • Amirhossein Ahmadi
    Department of Pharmacy, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran
  • Farideh Koohian
    Department of Medical Physics, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran
  • Mohammadsaied Jami
    Department of Biotechnology, University of Leon, Leon, Spain
  • Morteza Hashemzadeh
    Cellular and Molecular Research Center, Basic Health Sciences Institute, Shahrekord University of Medical Sciences, Shahrekord, Iran
  • Mansour Salehi
    Department of Genetics and Molecular Biology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran
  • Mohamma Amin Tabatabaiefar
    Department of Genetics and Molecular Biology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran
Introduction
Hearing loss (HL) is the most frequent sensory impairment. The incidence is 1–2 in 1000 neonates (http://hearing. screening.nhs.uk/nationalprog), with approximately 50–70% of cases being related to genetic causes. Autosomal recessive mode of inheritance is highly heterogeneous, for which over 100 mapped loci are known to be involved (http://hereditaryhearingloss.org). This extreme heterogeneity, as well as the assortative mating of deaf individuals, has hindered the search for HL-related genes by medical geneticists. For many years, traditional methods of genetic identification have depended on Sanger sequencing of genes in candidate regions identified through linkage. However, this approach is costly, time consuming, and unsuitable for families with inadequate numbers of available affected individuals combined with locus heterogeneity. Fortunately, a high-throughput, powerful technology known as next-generation sequencing (NGS) has been developed over the past 15 years. This revolutionary sequencing technique is capable of sequencing millions of small fragments covering the whole genome or large regions of interest, such as the entire coding portion of the genome (i.e. exome), at a reasonable cost and reduced runtime compared to Sanger sequencing.
Aims and Scope:
  1. Hereditary hearing loss
  2. Audiology
  3. Gene mutations
  4. Next generation sequencing
  5. Cochlear implantation
  6. Pre-implantation genetic diagnosis
Guidelines for Submission
Manuscripts should be formatted according to the guidelines for authors
(see: http://www.sciencepublishinggroup.com/journal/guideforauthors?journalid=373).

Please download the template to format your manuscript.

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