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Analysis of SLC26A4 Gene in Individuals with Non Syndromic Hearing Impairment in Relation with GJB2 Associated Mutations
BACKGROUND: Hearing Loss (HL) is the most common sensory disorder. HL commonly ranges from mild to severe. Persons with HL face difficulty in hearing conversations or sounds through one ear or both ears, which impacts one's ability to interact with others. Hence it is a communicable disorder th...
Autores principales: | , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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Avicenna Research Institute
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10073921/ https://www.ncbi.nlm.nih.gov/pubmed/37034890 |
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author | Rajalakshmi, Krishna Thirunavukkarasu, Jayakumar Vikraman, Meenu Ambika Maruthy, Santosh Sylvester, Charles Kundapur, Rajesh |
author_facet | Rajalakshmi, Krishna Thirunavukkarasu, Jayakumar Vikraman, Meenu Ambika Maruthy, Santosh Sylvester, Charles Kundapur, Rajesh |
author_sort | Rajalakshmi, Krishna |
collection | PubMed |
description | BACKGROUND: Hearing Loss (HL) is the most common sensory disorder. HL commonly ranges from mild to severe. Persons with HL face difficulty in hearing conversations or sounds through one ear or both ears, which impacts one's ability to interact with others. Hence it is a communicable disorder that makes people socially isolated, lonely, and frustrated. HL in children severely affects language development. The people who are referred to as ‘Deaf’ with very little or no hearing capabilities, are considered as having profound hearing loss. More than 124 genes are causative for Non-Syndromic HL (NSHL) with varying inheritance, among which the SLC26A4 mutations are the second commonest cause of hereditary HL across the globe. METHODS: Samples from 70 NSHL patients were analyzed through Next-Generation Sequencing (NGS) and generated five pathogenic variants [N246fs (rs918684449), K564fs (rs746427774), F122fs, V239D (rs111033256), T721M (rs121908363)] each with frequency of 1.42%. Three missense variants [S399P (rs747431002), L597S (rs55638457), and G6V (rs111033423)] were reported under the “uncertain” category. All the collected samples were further genotyped to look for the possibility of having GJB2 and HL-associated mutations. RESULTS: Out of five SLC26A4 pathogenic mutations N246fs (rs918684449) and K564fs (rs746427774) were observed in samples which were positive for GJB2-HL associated candidate mutations [W24X (rs104894396), Q124X (rs397516874) and W77X (rs80338944)]. Similarly, pathogenic variants F122fs, V239D (rs111033256) and T721M (rs121908363) were observed in patient samples which were negative for GJB2-HL associated mutations. CONCLUSION: Our data will expand the list of variants underlying NSHL and encourage further genotype SLC26A4 gene concerning the south Indian population with a large sample size. |
format | Online Article Text |
id | pubmed-10073921 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
publisher | Avicenna Research Institute |
record_format | MEDLINE/PubMed |
spelling | pubmed-100739212023-04-06 Analysis of SLC26A4 Gene in Individuals with Non Syndromic Hearing Impairment in Relation with GJB2 Associated Mutations Rajalakshmi, Krishna Thirunavukkarasu, Jayakumar Vikraman, Meenu Ambika Maruthy, Santosh Sylvester, Charles Kundapur, Rajesh Avicenna J Med Biotechnol Short Communication BACKGROUND: Hearing Loss (HL) is the most common sensory disorder. HL commonly ranges from mild to severe. Persons with HL face difficulty in hearing conversations or sounds through one ear or both ears, which impacts one's ability to interact with others. Hence it is a communicable disorder that makes people socially isolated, lonely, and frustrated. HL in children severely affects language development. The people who are referred to as ‘Deaf’ with very little or no hearing capabilities, are considered as having profound hearing loss. More than 124 genes are causative for Non-Syndromic HL (NSHL) with varying inheritance, among which the SLC26A4 mutations are the second commonest cause of hereditary HL across the globe. METHODS: Samples from 70 NSHL patients were analyzed through Next-Generation Sequencing (NGS) and generated five pathogenic variants [N246fs (rs918684449), K564fs (rs746427774), F122fs, V239D (rs111033256), T721M (rs121908363)] each with frequency of 1.42%. Three missense variants [S399P (rs747431002), L597S (rs55638457), and G6V (rs111033423)] were reported under the “uncertain” category. All the collected samples were further genotyped to look for the possibility of having GJB2 and HL-associated mutations. RESULTS: Out of five SLC26A4 pathogenic mutations N246fs (rs918684449) and K564fs (rs746427774) were observed in samples which were positive for GJB2-HL associated candidate mutations [W24X (rs104894396), Q124X (rs397516874) and W77X (rs80338944)]. Similarly, pathogenic variants F122fs, V239D (rs111033256) and T721M (rs121908363) were observed in patient samples which were negative for GJB2-HL associated mutations. CONCLUSION: Our data will expand the list of variants underlying NSHL and encourage further genotype SLC26A4 gene concerning the south Indian population with a large sample size. Avicenna Research Institute 2023 /pmc/articles/PMC10073921/ /pubmed/37034890 Text en Copyright© 2023 Avicenna Research Institute https://creativecommons.org/licenses/by-nc/4.0/This is an open access article distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited, appropriate credit is given, any changes made indicated, and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/ (https://creativecommons.org/licenses/by-nc/4.0/) |
spellingShingle | Short Communication Rajalakshmi, Krishna Thirunavukkarasu, Jayakumar Vikraman, Meenu Ambika Maruthy, Santosh Sylvester, Charles Kundapur, Rajesh Analysis of SLC26A4 Gene in Individuals with Non Syndromic Hearing Impairment in Relation with GJB2 Associated Mutations |
title | Analysis of SLC26A4 Gene in Individuals with Non Syndromic Hearing Impairment in Relation with GJB2 Associated Mutations |
title_full | Analysis of SLC26A4 Gene in Individuals with Non Syndromic Hearing Impairment in Relation with GJB2 Associated Mutations |
title_fullStr | Analysis of SLC26A4 Gene in Individuals with Non Syndromic Hearing Impairment in Relation with GJB2 Associated Mutations |
title_full_unstemmed | Analysis of SLC26A4 Gene in Individuals with Non Syndromic Hearing Impairment in Relation with GJB2 Associated Mutations |
title_short | Analysis of SLC26A4 Gene in Individuals with Non Syndromic Hearing Impairment in Relation with GJB2 Associated Mutations |
title_sort | analysis of slc26a4 gene in individuals with non syndromic hearing impairment in relation with gjb2 associated mutations |
topic | Short Communication |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10073921/ https://www.ncbi.nlm.nih.gov/pubmed/37034890 |
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