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A Descriptive Observational Study of GJB2 and GJB6 Mutations in Familial Autosomal Recessive Non-syndromic Hearing Impairment

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Abstract

Mutations in the genes, GJB2 and GJB6 play an important role in autosomal recessive, non-syndromic hearing loss. This study is aimed to detect the association of mutations in GJB2 and GJB6 genes in familial autosomal recessive non-syndromic hearing impairment cases. We included 26 families with at least two affected individuals having congenital bilateral, non-syndromic sensorineural hearing loss. Blood samples were drawn, DNA was extracted, and sent for multiplex PCR and Sanger sequencing. Of the 26 families analyzed, GJB2 mutations were detected in 9(34.6%) and GJB6 mutations were not detected in any of the families. GJB2 mutations are a major cause of congenital, non-syndromic hearing loss in this study population. This study also suggests that GJB6 mutations do not contribute to autosomal recessive non-syndromic hearing loss in the Indian population.

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Funding

This research received 6,00,000/- funds from RAJASTHAN UNIVERSITY OF HEALTH AND SCIENCES(RUHS), JAIPUR, RAJASTHAN.

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Authors and Affiliations

  1. Department of Otorhinolaryngology and Head and Neck Surgery, Sawai Man Singh Medical College and Hospital, Jaipur, Rajasthan, 302004, India

    Aakanksha Dadhich, Sunil Samdhani, Anshu Rawat & Mohnish Grover

  2. Department of Pathology, Sawai Man Singh Medical College and Hospital, Jaipur, Rajasthan, 302004, India

    Shruti Bhargava

  3. Department of Microbiology, Sawai Man Singh Medical College and Hospital, Jaipur, Rajasthan, 302004, India

    Bharti Malhotra

  4. Department of Pediatrics, Sawai Man Singh Medical College and Hospital, Jaipur, Rajasthan, 302004, India

    Priyanshu Mathur

  5. Jaipur, India

    Mohnish Grover

Authors
  1. Aakanksha Dadhich
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  2. Shruti Bhargava
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  3. Sunil Samdhani
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  4. Bharti Malhotra
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  5. Priyanshu Mathur
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  6. Anshu Rawat
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  7. Mohnish Grover
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Correspondence to Mohnish Grover.

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All procedures performed in study involving human participants were in accordance with the ethical standards of the institutional and national research committee and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards.

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Informed consent was obtained from all the participants included in the study.

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Dadhich, A., Bhargava, S., Samdhani, S. et al. A Descriptive Observational Study of GJB2 and GJB6 Mutations in Familial Autosomal Recessive Non-syndromic Hearing Impairment. Indian J Otolaryngol Head Neck Surg 75, 3575–3580 (2023). https://doi.org/10.1007/s12070-023-03948-2

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  • DOI: https://doi.org/10.1007/s12070-023-03948-2

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