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Contribution of GJB2 Mutations to Hearing Loss in the Hazara Division of Pakistan

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Abstract

Mutations of GJB2, which encodes connexin 26, are the most common cause of hereditary hearing loss in many human populations. This study was initiated to determine the prevalence of GJB2 mutations in individuals with hearing loss from the Hazara Division in Pakistan. We recruited 70 participants with nonsyndromic deafness segregating as an apparently recessive trait and directly sequenced the GJB2 coding region from their DNA. The homozygous mutations c.71 G→A (p.W24X), c.104 T→G (p.I35S), and c.35delG (p.G12VfsX1) were identified as the cause of hearing loss in three participants (4.28%); in populations from other areas of Pakistan, frequencies of 6–7% have been observed. The mutations c.104 T→G and c.35delG were identified in Pakistan for the first time. These results confirm the low prevalence of GJB2 mutations in Hazara and suggest that mutations in other genes may play a significant role in the etiology of deafness in this population.

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Acknowledgments

We are thankful to Dr. Mukhtiar Hassan for his support during MPhil thesis work at the Department of Biochemistry, Hazara University, Mansehra, Pakistan. We are also grateful to the participants in the study and to EDO Social Welfare Department Mansehra and Abbottabad. We also acknowledge the efforts of the Director of the Almunir Foundation for Disabled Children, Mansehra; the Director of the Al-Huda Speech Center, Abbottabad; and the principals of government schools for deaf children in Mansehra and Abbottabad for their help in identifying study participants. This research was supported by grant no. R01TW007608 from the Fogarty International Center and National Institute of Deafness and Other Communication Disorders, National Institutes of Health, USA.

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Authors and Affiliations

  1. School of Biological Sciences, University of the Punjab, Quaid-i-Azam Campus, Lahore, 54590, Pakistan

    Ihtisham Bukhari, Ghulam Mujtaba & Sadaf Naz

  2. Department of Biochemistry, Hazara University, Garden Campus, Mansehra, Pakistan

    Ihtisham Bukhari

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  1. Ihtisham Bukhari
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  2. Ghulam Mujtaba
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  3. Sadaf Naz
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Correspondence to Sadaf Naz.

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Bukhari, I., Mujtaba, G. & Naz, S. Contribution of GJB2 Mutations to Hearing Loss in the Hazara Division of Pakistan. Biochem Genet 51, 524–529 (2013). https://doi.org/10.1007/s10528-013-9583-z

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  • DOI: https://doi.org/10.1007/s10528-013-9583-z

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