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GJB2 mutations in deaf population of Ilam (Western Iran): a different pattern of mutation distribution

  • Otology
  • Published:
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Abstract

Hearing loss is the most common sensory defect caused by heterogeneous factors. Up to now, more than 60 mutations in genes have been documented for nonsyndromic hearing loss. Hence, finding the causal gene in affected families could be a laborious and time-consuming process. GJB2 mutations, here, were investigated among deaf subjects of Ilam for the first time. In this study, we studied 62 unrelated patients with non-syndromic autosomal recessive deafness from 62 families. The most common mutation of GJB2, 35delG was checked, followed by direct sequencing of the GJB2 gene for determination of other mutations. In silico analyses were also performed using available software. In nine families, mutations in the connexin 26 gene were observed. In the studied population, R32H was the most common mutation. 35delG, W24X, and R127H were other mutations found in this study. In silico analyses showed pathogenicity of 35delG, R32H, and W24X but not R127H. Low frequency of GJB2 mutations in this population is probably indicative of the fact that other genes may be involved in nonsyndromic hearing loss in Ilam populations. In the other hand, the vicinity of Ilam and Iraq suggests that GJB2 mutations have likely a low frequency in this population.

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Acknowledgments

This project was supported financially by deputy for research and technology of Ilam University of Medical Sciences, Iran (grant 911002/31). We also thank all volunteers for their participation in the study.

Conflict of interest

Authors have no conflicts of interest.

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Authors and Affiliations

  1. Research Laboratory, Rajaei Cardiovascular Medical and Research Center, Tehran University of Medical Sciences, Tehran, Iran

    Nejat Mahdieh

  2. Student Research Committee, Ilam University of Medical Sciences, Ilam, Iran

    Hamdollah Mahmoudi & Soleiman Ahmadzadeh

  3. Department of Clinical Biochemistry, Faculty of Medicine, Ilam University of Medical Sciences, Ilam, Iran

    Salar Bakhtiyari

Authors
  1. Nejat Mahdieh
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  2. Hamdollah Mahmoudi
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  3. Soleiman Ahmadzadeh
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  4. Salar Bakhtiyari
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Correspondence to Salar Bakhtiyari.

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Mahdieh, N., Mahmoudi, H., Ahmadzadeh, S. et al. GJB2 mutations in deaf population of Ilam (Western Iran): a different pattern of mutation distribution. Eur Arch Otorhinolaryngol 273, 1161–1165 (2016). https://doi.org/10.1007/s00405-015-3684-8

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  • DOI: https://doi.org/10.1007/s00405-015-3684-8

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