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Connexin 26 (GJB2) gene mutations linked with autosomal recessive non-syndromic sensor neural hearing loss in the Iraqi population
Deafness is a total or partial hearing loss that may appear at any age and with different degrees of severity. Approximately 50% of hearing loss have a genetic origin, and among them, non-syndromic sensorineural deafness represents about 70% of the cases. From them, 80% correspond to autosomal reces...
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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Carol Davila University Press
2021
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8811675/ https://www.ncbi.nlm.nih.gov/pubmed/35126756 http://dx.doi.org/10.25122/jml-2021-0152 |
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author | Al-janabi, Anwar Madlool Ahmmed, Habeeb Shuhaib Al-Khafaji, Salih Mahdi |
author_facet | Al-janabi, Anwar Madlool Ahmmed, Habeeb Shuhaib Al-Khafaji, Salih Mahdi |
author_sort | Al-janabi, Anwar Madlool |
collection | PubMed |
description | Deafness is a total or partial hearing loss that may appear at any age and with different degrees of severity. Approximately 50% of hearing loss have a genetic origin, and among them, non-syndromic sensorineural deafness represents about 70% of the cases. From them, 80% correspond to autosomal recessive inheritance deafness. Autosomal recessive deafness was not studied enough at the molecular level in Iraq. This study aimed to verify the frequency of three GJB2 mutations in non-syndromic sensorineural deafness in the Iraqi population. The current case-control study was conducted from January 2018 to January 2020. The study included 95 deafness patients (55 males and 40 females) and 110 healthy control group. Age and sex were matched between the two groups. In order to detect c.35delG, 235delC, and 167delT mutations in the GJB2 gene, we employed the PCR-RFLP technique. The c.35delG was the main frequent mutation encountered with the GJB2 gene among patients with autosomal recessive non-syndromic sensorineural hearing loss. Among them, 35 (36.8%) were homozygous, 40 (42.1%) were heterozygous, and 20 (21.1%) were wild genotypes. The second-degree mutation in the GJB2 gene was c.235delC mutation, which from the 95 deaf patients, there were 20 (21.1%) with homozygous, 33 (34.7%) heterozygous, and 42 (44.2%) wild genotypes. None of the 95 deaf patients showed the c.167delT mutation, and no mutations appeared in the control group. Our data concluded that the GJB2 c.35delG and c.235delC gene mutations were the main cause of autosomal recessive non-syndromic sensorineural hearing loss in the Iraqi deaf population. |
format | Online Article Text |
id | pubmed-8811675 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | Carol Davila University Press |
record_format | MEDLINE/PubMed |
spelling | pubmed-88116752022-02-03 Connexin 26 (GJB2) gene mutations linked with autosomal recessive non-syndromic sensor neural hearing loss in the Iraqi population Al-janabi, Anwar Madlool Ahmmed, Habeeb Shuhaib Al-Khafaji, Salih Mahdi J Med Life Original Article Deafness is a total or partial hearing loss that may appear at any age and with different degrees of severity. Approximately 50% of hearing loss have a genetic origin, and among them, non-syndromic sensorineural deafness represents about 70% of the cases. From them, 80% correspond to autosomal recessive inheritance deafness. Autosomal recessive deafness was not studied enough at the molecular level in Iraq. This study aimed to verify the frequency of three GJB2 mutations in non-syndromic sensorineural deafness in the Iraqi population. The current case-control study was conducted from January 2018 to January 2020. The study included 95 deafness patients (55 males and 40 females) and 110 healthy control group. Age and sex were matched between the two groups. In order to detect c.35delG, 235delC, and 167delT mutations in the GJB2 gene, we employed the PCR-RFLP technique. The c.35delG was the main frequent mutation encountered with the GJB2 gene among patients with autosomal recessive non-syndromic sensorineural hearing loss. Among them, 35 (36.8%) were homozygous, 40 (42.1%) were heterozygous, and 20 (21.1%) were wild genotypes. The second-degree mutation in the GJB2 gene was c.235delC mutation, which from the 95 deaf patients, there were 20 (21.1%) with homozygous, 33 (34.7%) heterozygous, and 42 (44.2%) wild genotypes. None of the 95 deaf patients showed the c.167delT mutation, and no mutations appeared in the control group. Our data concluded that the GJB2 c.35delG and c.235delC gene mutations were the main cause of autosomal recessive non-syndromic sensorineural hearing loss in the Iraqi deaf population. Carol Davila University Press 2021 /pmc/articles/PMC8811675/ /pubmed/35126756 http://dx.doi.org/10.25122/jml-2021-0152 Text en ©2021 JOURNAL of MEDICINE and LIFE https://creativecommons.org/licenses/by/3.0/This article is distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/3.0/ (https://creativecommons.org/licenses/by/3.0/) ), which permits unrestricted use and redistribution provided that the original author and source are credited. |
spellingShingle | Original Article Al-janabi, Anwar Madlool Ahmmed, Habeeb Shuhaib Al-Khafaji, Salih Mahdi Connexin 26 (GJB2) gene mutations linked with autosomal recessive non-syndromic sensor neural hearing loss in the Iraqi population |
title | Connexin 26 (GJB2) gene mutations linked with autosomal recessive non-syndromic sensor neural hearing loss in the Iraqi population |
title_full | Connexin 26 (GJB2) gene mutations linked with autosomal recessive non-syndromic sensor neural hearing loss in the Iraqi population |
title_fullStr | Connexin 26 (GJB2) gene mutations linked with autosomal recessive non-syndromic sensor neural hearing loss in the Iraqi population |
title_full_unstemmed | Connexin 26 (GJB2) gene mutations linked with autosomal recessive non-syndromic sensor neural hearing loss in the Iraqi population |
title_short | Connexin 26 (GJB2) gene mutations linked with autosomal recessive non-syndromic sensor neural hearing loss in the Iraqi population |
title_sort | connexin 26 (gjb2) gene mutations linked with autosomal recessive non-syndromic sensor neural hearing loss in the iraqi population |
topic | Original Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8811675/ https://www.ncbi.nlm.nih.gov/pubmed/35126756 http://dx.doi.org/10.25122/jml-2021-0152 |
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