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Hereditary etiology of non-syndromic sensorineural hearing loss in the Republic of North Ossetia–Alania
More than 50% of congenital hearing loss is hereditary, in which the majority form is non-syndromic. In this study we estimate the most prevalent pathogenic genetic changes in an Ossetian cohort of patients. This is useful for local public health officials to promote genetic counseling of affected f...
Autores principales: | , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
PeerJ Inc.
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9893906/ https://www.ncbi.nlm.nih.gov/pubmed/36743950 http://dx.doi.org/10.7717/peerj.14514 |
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author | Petrova, Nika Tebieva, Inna Kadyshev, Vitaly Getoeva, Zalina Balinova, Natalia Marakhonov, Andrey Vasilyeva, Tatyana Ginter, Evgeny Kutsev, Sergey Zinchenko, Rena |
author_facet | Petrova, Nika Tebieva, Inna Kadyshev, Vitaly Getoeva, Zalina Balinova, Natalia Marakhonov, Andrey Vasilyeva, Tatyana Ginter, Evgeny Kutsev, Sergey Zinchenko, Rena |
author_sort | Petrova, Nika |
collection | PubMed |
description | More than 50% of congenital hearing loss is hereditary, in which the majority form is non-syndromic. In this study we estimate the most prevalent pathogenic genetic changes in an Ossetian cohort of patients. This is useful for local public health officials to promote genetic counseling of affected families with regard to high allele frequencies of prevalent pathogenic variants and assortative mating in the community of people with hearing loss. In this study, genetic heterogeneity of hereditary non-syndromic sensorineural hearing loss (NSNHL) in a cohort of 109 patients and an assessment of the frequency of two GJB2 gene pathogenic variants in a cohort of 349 healthy individuals from the populations of the Republic of North Ossetia–Alania (RNO–Alania) were assessed. The molecular genetic cause of NSNHL in the GJB2 gene in RNO–Alania was confirmed in ~30% of the cases, including ~27% in Ossetians. In Russian patients, the most frequent variant is GJB2:c.35delG (~83%). The GJB2:c.358_360delGAG variant was found to be the most frequent among Ossetians (~54%). Two genetic variants in GJB2, c.35delG and c.358_360delGAG, accounted for 91% of GJB2 pathogenic alleles in the Ossetian patients. A search for large genome rearrangements revealed etiological cause in two Ossetian patients, a deletion at the POU3F4 gene locus associated with X-linked hearing loss (type DFNX2). In another Ossetian patient, a biallelic pathogenic variant in the MYO15A gene caused hearing loss type DFNB3 was identified, and in one Russian family a heterozygous MYH14 gene variant associated with dominant NSNHL was found. Thus, the informative value of the diagnosis was ~37% among all patients with NSNHL from RNO–Alania and ~32% among the Ossetians. These estimates correspond to the literature data on the fraction of recessive genetic forms of hearing loss within the affected population. The importance of this study consists not only in the estimation of the most prevalent pathogenic genetic changes in the Ossetian cohort of patients which could be useful for the public health but also in the genetic counselling of the affected families with regard to the high allele frequencies of revealed pathogenic variants as well as to the assortative mating in community of people with hearing loss. |
format | Online Article Text |
id | pubmed-9893906 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
publisher | PeerJ Inc. |
record_format | MEDLINE/PubMed |
spelling | pubmed-98939062023-02-03 Hereditary etiology of non-syndromic sensorineural hearing loss in the Republic of North Ossetia–Alania Petrova, Nika Tebieva, Inna Kadyshev, Vitaly Getoeva, Zalina Balinova, Natalia Marakhonov, Andrey Vasilyeva, Tatyana Ginter, Evgeny Kutsev, Sergey Zinchenko, Rena PeerJ Epidemiology More than 50% of congenital hearing loss is hereditary, in which the majority form is non-syndromic. In this study we estimate the most prevalent pathogenic genetic changes in an Ossetian cohort of patients. This is useful for local public health officials to promote genetic counseling of affected families with regard to high allele frequencies of prevalent pathogenic variants and assortative mating in the community of people with hearing loss. In this study, genetic heterogeneity of hereditary non-syndromic sensorineural hearing loss (NSNHL) in a cohort of 109 patients and an assessment of the frequency of two GJB2 gene pathogenic variants in a cohort of 349 healthy individuals from the populations of the Republic of North Ossetia–Alania (RNO–Alania) were assessed. The molecular genetic cause of NSNHL in the GJB2 gene in RNO–Alania was confirmed in ~30% of the cases, including ~27% in Ossetians. In Russian patients, the most frequent variant is GJB2:c.35delG (~83%). The GJB2:c.358_360delGAG variant was found to be the most frequent among Ossetians (~54%). Two genetic variants in GJB2, c.35delG and c.358_360delGAG, accounted for 91% of GJB2 pathogenic alleles in the Ossetian patients. A search for large genome rearrangements revealed etiological cause in two Ossetian patients, a deletion at the POU3F4 gene locus associated with X-linked hearing loss (type DFNX2). In another Ossetian patient, a biallelic pathogenic variant in the MYO15A gene caused hearing loss type DFNB3 was identified, and in one Russian family a heterozygous MYH14 gene variant associated with dominant NSNHL was found. Thus, the informative value of the diagnosis was ~37% among all patients with NSNHL from RNO–Alania and ~32% among the Ossetians. These estimates correspond to the literature data on the fraction of recessive genetic forms of hearing loss within the affected population. The importance of this study consists not only in the estimation of the most prevalent pathogenic genetic changes in the Ossetian cohort of patients which could be useful for the public health but also in the genetic counselling of the affected families with regard to the high allele frequencies of revealed pathogenic variants as well as to the assortative mating in community of people with hearing loss. PeerJ Inc. 2023-01-30 /pmc/articles/PMC9893906/ /pubmed/36743950 http://dx.doi.org/10.7717/peerj.14514 Text en © 2023 Petrova et al. https://creativecommons.org/licenses/by/4.0/This is an open access article distributed under the terms of the Creative Commons Attribution License (https://creativecommons.org/licenses/by/4.0/) , which permits unrestricted use, distribution, reproduction and adaptation in any medium and for any purpose provided that it is properly attributed. For attribution, the original author(s), title, publication source (PeerJ) and either DOI or URL of the article must be cited. |
spellingShingle | Epidemiology Petrova, Nika Tebieva, Inna Kadyshev, Vitaly Getoeva, Zalina Balinova, Natalia Marakhonov, Andrey Vasilyeva, Tatyana Ginter, Evgeny Kutsev, Sergey Zinchenko, Rena Hereditary etiology of non-syndromic sensorineural hearing loss in the Republic of North Ossetia–Alania |
title | Hereditary etiology of non-syndromic sensorineural hearing loss in the Republic of North Ossetia–Alania |
title_full | Hereditary etiology of non-syndromic sensorineural hearing loss in the Republic of North Ossetia–Alania |
title_fullStr | Hereditary etiology of non-syndromic sensorineural hearing loss in the Republic of North Ossetia–Alania |
title_full_unstemmed | Hereditary etiology of non-syndromic sensorineural hearing loss in the Republic of North Ossetia–Alania |
title_short | Hereditary etiology of non-syndromic sensorineural hearing loss in the Republic of North Ossetia–Alania |
title_sort | hereditary etiology of non-syndromic sensorineural hearing loss in the republic of north ossetia–alania |
topic | Epidemiology |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9893906/ https://www.ncbi.nlm.nih.gov/pubmed/36743950 http://dx.doi.org/10.7717/peerj.14514 |
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