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Molecular Genetic Study of the Causes of Nonsyndromic Sensorineural Hearing Loss in Patients from Georgia

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Abstract

Pathogenic variants in the GJB2 gene are the most common reason for nonsyndromic sensorineural hearing loss. In this study, we examined Georgian patients with sensorineural hearing loss. We establish the ratio of GJB2-related deafness among patients with impaired hearing. The mutation spectrum of the GJB2 gene in Georgia is represented by the following pathogenic variants: c.35delG, c.358_360delGAG, c.‒23+1G>A, and c.551G>C. The estimated GJB2-related hearing loss carrier frequency is 2.6%. The following variants, which are common in Russian patients, were not detected in Georgian patients: STRC (c.2171_2174delTTTG), USH2A (c.11864G>A), SLC26A4 (c.1001G>T) and c.107A>C (p.His36Pro), CLIC5 (c.1121G>A). Molecular genetic diagnosis was established for 30.8% of patients.

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Funding

This work was carried out within the framework of the state task of the Ministry of Education and Science of Russia.

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Authors and Affiliations

  1. Research Center for Medical Genetics, 115478, Moscow, Russia

    A. A. Stepanova, O. R. Ismagilova, N. M. Galeeva & A. V. Polyakov

  2. National Research Center for Audiology and Hearing Rehabilitation, 117513, Moscow, Russia

    T. G. Markova & G. A. Tavartkiladze

  3. Georgian Foundation for Genetic and Rare Diseases, 0162, Tbilisi, Georgia

    O. Kvlividze

  4. School of Medicine, New Vision University, 0159, Tbilisi, Georgia

    O. Kvlividze

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  1. A. A. Stepanova
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  2. O. R. Ismagilova
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Correspondence to A. A. Stepanova.

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Statement of compliance with standards of research involving humans as subjects. All procedures performed in a study involving people comply with the ethical standards of the institutional and/or national committee for research ethics and the 1964 Helsinki Declaration and its subsequent changes or comparable ethical standards.

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Stepanova, A.A., Ismagilova, O.R., Galeeva, N.M. et al. Molecular Genetic Study of the Causes of Nonsyndromic Sensorineural Hearing Loss in Patients from Georgia. Russ J Genet 58, 585–592 (2022). https://doi.org/10.1134/S1022795422050106

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