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Analysis of Genetic Variations in Connexin 26 ( GJB2 ) Gene among Nonsyndromic Hearing Impairment: Familial Study
Objective The goal of this research was to investigate the gap junction beta 2 ( GJB2 ) gene mutations associated with nonsyndromic hearing loss individuals in North Karnataka, India. Materials and Methods For this study, patients with sensorineural genetic hearing abnormalities and a family histo...
Autores principales: | , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Georg Thieme Verlag KG
2022
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9192169/ https://www.ncbi.nlm.nih.gov/pubmed/35707775 http://dx.doi.org/10.1055/s-0042-1743257 |
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author | Hegde, Smita Hegde, Rajat Kulkarni, Suyamindra S. Das, Kusal K. Gai, Pramod B. Bulagouda, Rudragouda S. |
author_facet | Hegde, Smita Hegde, Rajat Kulkarni, Suyamindra S. Das, Kusal K. Gai, Pramod B. Bulagouda, Rudragouda S. |
author_sort | Hegde, Smita |
collection | PubMed |
description | Objective The goal of this research was to investigate the gap junction beta 2 ( GJB2 ) gene mutations associated with nonsyndromic hearing loss individuals in North Karnataka, India. Materials and Methods For this study, patients with sensorineural genetic hearing abnormalities and a family history of deafness were included. A total of 35 patients from 20 families have been included in the study. The patient's DNA was isolated from peripheral blood samples. The GJB2 gene coding region was analyzed through Sanger sequencing. Results There is no changes in the first exon of the GJB2 gene. Nine different variants were recorded in second exon of the targeted gene. W24X and W77X are two nonsense mutations and three polymorphisms viz. R127H, V153I, and I33T were reported along with four 3′-UTR variants. A total (9/20) of 45% of families have been identified with mutations in the targeted gene. Conclusion GJB2 mutations were identified in 19 deaf-mute patients (19/35), and 13 patients were homozygous for the mutations identified in our study cohort. In our study, W24X mutation was found to be the pathogenic with a high percentage, prompting further evaluation of the other genes, along with the study of additional genetic or external causes in the families, which is essential. |
format | Online Article Text |
id | pubmed-9192169 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | Georg Thieme Verlag KG |
record_format | MEDLINE/PubMed |
spelling | pubmed-91921692022-06-14 Analysis of Genetic Variations in Connexin 26 ( GJB2 ) Gene among Nonsyndromic Hearing Impairment: Familial Study Hegde, Smita Hegde, Rajat Kulkarni, Suyamindra S. Das, Kusal K. Gai, Pramod B. Bulagouda, Rudragouda S. Glob Med Genet Objective The goal of this research was to investigate the gap junction beta 2 ( GJB2 ) gene mutations associated with nonsyndromic hearing loss individuals in North Karnataka, India. Materials and Methods For this study, patients with sensorineural genetic hearing abnormalities and a family history of deafness were included. A total of 35 patients from 20 families have been included in the study. The patient's DNA was isolated from peripheral blood samples. The GJB2 gene coding region was analyzed through Sanger sequencing. Results There is no changes in the first exon of the GJB2 gene. Nine different variants were recorded in second exon of the targeted gene. W24X and W77X are two nonsense mutations and three polymorphisms viz. R127H, V153I, and I33T were reported along with four 3′-UTR variants. A total (9/20) of 45% of families have been identified with mutations in the targeted gene. Conclusion GJB2 mutations were identified in 19 deaf-mute patients (19/35), and 13 patients were homozygous for the mutations identified in our study cohort. In our study, W24X mutation was found to be the pathogenic with a high percentage, prompting further evaluation of the other genes, along with the study of additional genetic or external causes in the families, which is essential. Georg Thieme Verlag KG 2022-06-13 /pmc/articles/PMC9192169/ /pubmed/35707775 http://dx.doi.org/10.1055/s-0042-1743257 Text en The Author(s). This is an open access article published by Thieme under the terms of the Creative Commons Attribution License, permitting unrestricted use, distribution, and reproduction so long as the original work is properly cited. ( https://creativecommons.org/licenses/by/4.0/ ) https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Hegde, Smita Hegde, Rajat Kulkarni, Suyamindra S. Das, Kusal K. Gai, Pramod B. Bulagouda, Rudragouda S. Analysis of Genetic Variations in Connexin 26 ( GJB2 ) Gene among Nonsyndromic Hearing Impairment: Familial Study |
title |
Analysis of Genetic Variations in Connexin 26 (
GJB2
) Gene among Nonsyndromic Hearing Impairment: Familial Study
|
title_full |
Analysis of Genetic Variations in Connexin 26 (
GJB2
) Gene among Nonsyndromic Hearing Impairment: Familial Study
|
title_fullStr |
Analysis of Genetic Variations in Connexin 26 (
GJB2
) Gene among Nonsyndromic Hearing Impairment: Familial Study
|
title_full_unstemmed |
Analysis of Genetic Variations in Connexin 26 (
GJB2
) Gene among Nonsyndromic Hearing Impairment: Familial Study
|
title_short |
Analysis of Genetic Variations in Connexin 26 (
GJB2
) Gene among Nonsyndromic Hearing Impairment: Familial Study
|
title_sort | analysis of genetic variations in connexin 26 (
gjb2
) gene among nonsyndromic hearing impairment: familial study |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9192169/ https://www.ncbi.nlm.nih.gov/pubmed/35707775 http://dx.doi.org/10.1055/s-0042-1743257 |
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