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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...

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Autores principales: Rajalakshmi, Krishna, Thirunavukkarasu, Jayakumar, Vikraman, Meenu Ambika, Maruthy, Santosh, Sylvester, Charles, Kundapur, Rajesh
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Avicenna Research Institute 2023
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.
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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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