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Markova T.G.

National Research Centre for Audiology and Hearing Rehabilitation;
Russian Medical Academy for Continuous Professional Education

Alekseeva N.N.

National Research Centre for Audiology and Hearing Rehabilitation;
Russian Medical Academy for Continuous Professional Education

Belov O.A.

National Research Centre for Audiology and Hearing Rehabilitation

Chugunova T.I.

National Research Centre for Audiology and Hearing Rehabilitation

Tsygankova E.R.

Russian Scientific and Clinical Center for Audiology and Hearing Prosthetics of the Federal Medical and Biological Agency;
Russian Medical Academy for Continuous Professional Education

Hearing loss due to mutations in the genes responsible for Usher syndrome

Authors:

Markova T.G., Alekseeva N.N., Belov O.A., Chugunova T.I., Tsygankova E.R.

More about the authors

Journal: Russian Bulletin of Otorhinolaryngology. 2022;87(1): 52‑59

DOI: 10.17116/otorino20228701152

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Table of contents

HEARING LOSS DUE TO MUTATIONS IN THE GENES RESPONSIBLE FOR USHER SYNDROME
HEARING LOSS DUE TO MUTATIONS IN THE GENES RESPONSIBLE FOR USHER SYNDROME

To cite this article:

Markova TG, Alekseeva NN, Belov OA, Chugunova TI, Tsygankova ER. Hearing loss due to mutations in the genes responsible for Usher syndrome. Russian Bulletin of Otorhinolaryngology. 2022;87(1):52‑59. (In Russ.)
https://doi.org/10.17116/otorino20228701152

Подписка 2025-2 (Russian Bulletin of Otorhinolaryngology)
 
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Usher syndrome is characterized by congenital bilateral sensorineural hearing loss and progressive retinitis pigmentosa, and has an autosomal recessive type of inheritance. The purpose of this work is to summarize the modern data of a clinical picture of Usher syndrome and analyse hearing impairment properties. The frequency of the syndrome among children suffering from hearing loss and deafness is from 3 to 10%. The prevalence of the syndrome in the world is estimated as 4.4 per 100.000 population. The complexity of the diagnosis of the syndrome lies in the significant clinical and genetic heterogeneity. Hearing and vision problems begin at different ages. Primary diagnosis begins with the clinical diagnosis of bilateral hearing loss and visual impairment manifests later. In this case the initial diagnosis of nonsyndromal hearing loss will not be definitive. Molecular genetic studies contribute to the early clinical diagnosis of the syndrome. Understanding the cause of the disease allows to conduct correct medical and genetic counseling and get closer to solving treatment problems.

Keywords:

Usher syndrome
syndromal and nonsyndromal sensorineural hearing loss
hereditary hearing loss/deafness
MYO7A
USH2A genes

Authors:

Markova T.G.

National Research Centre for Audiology and Hearing Rehabilitation;
Russian Medical Academy for Continuous Professional Education

Alekseeva N.N.

National Research Centre for Audiology and Hearing Rehabilitation;
Russian Medical Academy for Continuous Professional Education

Belov O.A.

National Research Centre for Audiology and Hearing Rehabilitation

Chugunova T.I.

National Research Centre for Audiology and Hearing Rehabilitation

Tsygankova E.R.

Russian Scientific and Clinical Center for Audiology and Hearing Prosthetics of the Federal Medical and Biological Agency;
Russian Medical Academy for Continuous Professional Education

Received:

09.02.2021

Accepted:

22.04.2021

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