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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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. |
doi_str_mv | 10.25122/jml-2021-0152 |
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E-mail: anwar.aljanabi@uokufa.edu.iq ; Department of Anatomy & Histology, College of Medicine, University of Kufa, Najaf, Iraq</creatorcontrib><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.</description><identifier>ISSN: 1844-122X</identifier><identifier>ISSN: 1844-3117</identifier><identifier>EISSN: 1844-3117</identifier><identifier>DOI: 10.25122/jml-2021-0152</identifier><identifier>PMID: 35126756</identifier><language>eng</language><publisher>Romania: Carol Daila University Foundation</publisher><subject>Age ; Case-Control Studies ; Connexin 26 ; Connexins - genetics ; Deafness ; Enzymes ; Families & family life ; Female ; Genes ; Genotype & phenotype ; Hearing loss ; Hearing Loss - epidemiology ; Hearing Loss - genetics ; Hearing protection ; Humans ; Male ; Mutation ; Original ; Population ; Proteins ; Software</subject><ispartof>Journal of medicine and life, 2021-11, Vol.14 (6), p.841-846</ispartof><rights>2021 JOURNAL of MEDICINE and LIFE.</rights><rights>Copyright Carol Daila University Foundation Nov/Dec 2021</rights><rights>2021 JOURNAL of MEDICINE and LIFE 2021</rights><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><cites>FETCH-LOGICAL-c2882-a86868623029f48337f0427ce10bc778c7d72efa7fcf7adfcb9aa9cf8d29dbc83</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC8811675/pdf/$$EPDF$$P50$$Gpubmedcentral$$Hfree_for_read</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC8811675/$$EHTML$$P50$$Gpubmedcentral$$Hfree_for_read</linktohtml><link.rule.ids>230,314,727,780,784,885,27924,27925,53791,53793</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/35126756$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Al-Janabi, Anwar Madlool</creatorcontrib><creatorcontrib>Ahmmed, Habeeb Shuhaib</creatorcontrib><creatorcontrib>Al-Khafaji, Salih Mahdi</creatorcontrib><creatorcontrib>Department of Clinical Chemistry, College of Medicine, University of Kufa, Najaf, Iraq</creatorcontrib><creatorcontrib>Department of Otolaryngology, College of Medicine, University of Kufa, Najaf, Iraq</creatorcontrib><creatorcontrib>Anwar Madlool Al-janabi, Department of Clinical Chemistry, College of Medicine, University of Kufa, Najaf, Iraq. E-mail: anwar.aljanabi@uokufa.edu.iq</creatorcontrib><creatorcontrib>Department of Anatomy & Histology, College of Medicine, University of Kufa, Najaf, Iraq</creatorcontrib><title>Connexin 26 (GJB2) gene mutations linked with autosomal recessive non-syndromic sensor neural hearing loss in the Iraqi population</title><title>Journal of medicine and life</title><addtitle>J Med Life</addtitle><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.</description><subject>Age</subject><subject>Case-Control Studies</subject><subject>Connexin 26</subject><subject>Connexins - genetics</subject><subject>Deafness</subject><subject>Enzymes</subject><subject>Families & family life</subject><subject>Female</subject><subject>Genes</subject><subject>Genotype & phenotype</subject><subject>Hearing loss</subject><subject>Hearing Loss - epidemiology</subject><subject>Hearing Loss - genetics</subject><subject>Hearing protection</subject><subject>Humans</subject><subject>Male</subject><subject>Mutation</subject><subject>Original</subject><subject>Population</subject><subject>Proteins</subject><subject>Software</subject><issn>1844-122X</issn><issn>1844-3117</issn><issn>1844-3117</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2021</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>ABUWG</sourceid><sourceid>AFKRA</sourceid><sourceid>AZQEC</sourceid><sourceid>BENPR</sourceid><sourceid>CCPQU</sourceid><sourceid>DWQXO</sourceid><sourceid>GNUQQ</sourceid><recordid>eNpdkc9vFCEUx4nR2Kbt1aMh8VIP08JjdmAuJrrRWtOkF028EZZ57LLOwBZmqr36l8u0a6OFAy_h877vx5eQV5ydwYIDnG-HvgIGvGJ8Ac_IIVd1XQnO5fN9XKDvB-Qk5y0rp140TSNekgNRshu5aA7J72UMAX_5QKGhpxdfPsBbusaAdJhGM_oYMu19-IEd_enHDTXTGHMcTE8TWszZ3yINMVT5LnQpDt7SjCHHRANOqVAbNMmHNe1jzrQUGTdIL5O58XQXd1N_X-GYvHCmz3iyf4_It08fvy4_V1fXF5fL91eVBaWgMqqZLwgGrauVENKxGqRFzlZWSmVlJwGdkc46aTpnV60xrXWqg7ZbWSWOyLsH3d20GrCzGMbSot4lP5h0p6Px-v-f4Dd6HW-1UpyXbRWB071AijcT5lEPPlvsexMwTllDA3N7DRMFffME3cYphTJeoQRvmeQwU2cPlE1lPwndYzOc6XuHdXFYzw7r2eGS8PrfER7xv36KPxLro_I</recordid><startdate>202111</startdate><enddate>202111</enddate><creator>Al-Janabi, Anwar Madlool</creator><creator>Ahmmed, Habeeb Shuhaib</creator><creator>Al-Khafaji, Salih Mahdi</creator><general>Carol Daila University Foundation</general><general>Carol Davila University Press</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>3V.</scope><scope>7X7</scope><scope>7XB</scope><scope>88E</scope><scope>8FE</scope><scope>8FH</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>AZQEC</scope><scope>BBNVY</scope><scope>BENPR</scope><scope>BHPHI</scope><scope>BYOGL</scope><scope>CCPQU</scope><scope>DWQXO</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>GNUQQ</scope><scope>HCIFZ</scope><scope>K9.</scope><scope>LK8</scope><scope>M0S</scope><scope>M1P</scope><scope>M7P</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>7X8</scope><scope>5PM</scope></search><sort><creationdate>202111</creationdate><title>Connexin 26 (GJB2) gene mutations linked with autosomal recessive non-syndromic sensor neural hearing loss in the Iraqi population</title><author>Al-Janabi, Anwar Madlool ; Ahmmed, Habeeb Shuhaib ; Al-Khafaji, Salih Mahdi</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c2882-a86868623029f48337f0427ce10bc778c7d72efa7fcf7adfcb9aa9cf8d29dbc83</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2021</creationdate><topic>Age</topic><topic>Case-Control Studies</topic><topic>Connexin 26</topic><topic>Connexins - genetics</topic><topic>Deafness</topic><topic>Enzymes</topic><topic>Families & family life</topic><topic>Female</topic><topic>Genes</topic><topic>Genotype & phenotype</topic><topic>Hearing loss</topic><topic>Hearing Loss - epidemiology</topic><topic>Hearing Loss - genetics</topic><topic>Hearing protection</topic><topic>Humans</topic><topic>Male</topic><topic>Mutation</topic><topic>Original</topic><topic>Population</topic><topic>Proteins</topic><topic>Software</topic><toplevel>online_resources</toplevel><creatorcontrib>Al-Janabi, Anwar Madlool</creatorcontrib><creatorcontrib>Ahmmed, Habeeb Shuhaib</creatorcontrib><creatorcontrib>Al-Khafaji, Salih Mahdi</creatorcontrib><creatorcontrib>Department of Clinical Chemistry, College of Medicine, University of Kufa, Najaf, Iraq</creatorcontrib><creatorcontrib>Department of Otolaryngology, College of Medicine, University of Kufa, Najaf, Iraq</creatorcontrib><creatorcontrib>Anwar Madlool Al-janabi, Department of Clinical Chemistry, College of Medicine, University of Kufa, Najaf, Iraq. 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E-mail: anwar.aljanabi@uokufa.edu.iq</aucorp><aucorp>Department of Anatomy & Histology, College of Medicine, University of Kufa, Najaf, Iraq</aucorp><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Connexin 26 (GJB2) gene mutations linked with autosomal recessive non-syndromic sensor neural hearing loss in the Iraqi population</atitle><jtitle>Journal of medicine and life</jtitle><addtitle>J Med Life</addtitle><date>2021-11</date><risdate>2021</risdate><volume>14</volume><issue>6</issue><spage>841</spage><epage>846</epage><pages>841-846</pages><issn>1844-122X</issn><issn>1844-3117</issn><eissn>1844-3117</eissn><abstract>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.</abstract><cop>Romania</cop><pub>Carol Daila University Foundation</pub><pmid>35126756</pmid><doi>10.25122/jml-2021-0152</doi><tpages>6</tpages><oa>free_for_read</oa></addata></record> |
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subjects | Age Case-Control Studies Connexin 26 Connexins - genetics Deafness Enzymes Families & family life Female Genes Genotype & phenotype Hearing loss Hearing Loss - epidemiology Hearing Loss - genetics Hearing protection Humans Male Mutation Original Population Proteins Software |
title | Connexin 26 (GJB2) gene mutations linked with autosomal recessive non-syndromic sensor neural hearing loss in the Iraqi population |
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