132 -5 (79) 2025 - Madrimova A.G., Khaydarova G.S. - MOLECULAR GENETIC CHARACTERISTICS OF SENSORYNEURAL HEARING LOSS IN CHILDREN USING PCR DIAGNOSTICS

MOLECULAR GENETIC CHARACTERISTICS OF SENSORYNEURAL HEARING LOSS IN CHILDREN USING PCR DIAGNOSTICS

Madrimova A.G. - Urgench branch of the Tashkent Medical Academy

Khaydarova G.S. - Urgench branch of the Tashkent Medical Academy

Resume

This study focuses on the development and implementation of an early detection algorithm for sensorineural hearing loss in children using polymerase chain reaction (PCR) methods. A total of 235 children with hearing impairment were examined, including 132 who underwent PCR-based genetic testing for GJB2, SLC26A4, and MT-RNR1 mutations. Mutations in GJB2 were identified in 29.5% of cases, SLC26A4 in 12.9%, and MT-RNR1 in 4.5%. Variants of uncertain clinical significance (VUS) were found in 12.9% of children. The findings confirm the high diagnostic value of PCR testing in detecting hereditary hearing loss and support its inclusion in early screening protocols.

Keywords: sensorineural hearing loss, children, PCR diagnostics, GJB2, SLC26A4, MT-RNR1, hearing screening, genetics.

First page

644

Last page

650

For citation:Madrimova A.G., Khaydarova G.S. - MOLECULAR GENETIC CHARACTERISTICS OF SENSORYNEURAL HEARING LOSS IN CHILDREN USING PCR DIAGNOSTICS//New Day in Medicine 5(79)2025 644-650 https://newdayworldmedicine.com/en/new_day_medicine/5-79-2025

List of References

1. Глухота и потеря слуха. Основные факты ВОЗ. https://www.who.int/ru/news-room/fact-sheets/detail/deafness-and-hearing-loss
2. Дульнев В. В., Слюсарь Т. А. Характеристика коротколатентных слуховых вызванных потенциалов у детей с церебральным параличом // Нервно-мышечные болезни. – 2019. – Т. 9. – №. 1.
3. Таварткиладзе, Г.А. Руководство по клинической аудиологии / Г.А. Таварткиладзе. – М.: Медицина, 2013. –С.176-180.
4. Хайдарова Г.С. Разработка дифференциально-диагностических критериев и способов реабилитации детей с сенсоневральной тугоухостью Автореф. дис…д.м.н. Ташкент., 2017; С. 34.
5. Birkenhäger R. et al. Non-syndromic hereditary hearing impairment //Laryngo-rhino- Joint otologie. – 2007. – Т. 86. – №. 4. – P. 299-309; quiz 310-3.
6. Li M. M. et al. Clinical evaluation and etiologic diagnosis of hearing loss: A clinical practice resource of the American College of Medical Genetics and Genomics (ACMG) //Genetics in Medicine. – 2022. – Т. 24. – №. 7. – С. 1392-1406.
7. Olusanya B. O., Somefun A. O., Swanepoel D. W. The need for standardization of methods for worldwide infant hearing screening: a systematic review //The Laryngoscope. – 2008. – Т. 118. – №. 10. – P. 1830-1836.
8. Parker M. J. et al. Population-Based Genetic Study of Childhood Hearing Impairment in the Trent Region of the United Kingdom: Estudio Genetico Sobre Sordera Infantil en una Poblacion de la Region de Trent en el Reino Unido //Audiology. – 2000. – Т. 39. – №. 4. – P. 226-231.
9. Petersen M. B., Willems P. J. Non‐syndromic, autosomal‐recessive deafness //Clinical genetics. – 2006. – Т. 69. – №. 5. – P. 371-392.
10. Pourarian S, Khademi B, Pishva N, Jamali A. Prevalence of hearing loss in newborns admitted to neonatal intensive care unit. Iran J. Otorhinolaryngol. 2012;24(68):129–34.
11. Romand R, ed. Development of Auditory and Vestibular Systems 2. Amsterdam, New York: Elsevier; 1992
12. Seligman K. L. et al. Genetic causes of hearing loss in a large cohort of cochlear implant recipients //Otolaryngology–Head and Neck Surgery. – 2022. – Т. 166. – №. 4. – С. 734-737.
13. Shapiro S. M., Conlee J. W. Brainstem auditory evoked potentials correlate with morphological changes in Gunn rat pups //Hearing research. – 1991. – Т. 57. – №. 1. – P. 16-22.
14. Shearer A. E. et al. Genetic hearing loss overview /GeneReviews®[Internet]. – 2023.

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