Two Novel Missense Mutations in the Connexin 26 Gene in Turkish Patients with Nonsyndromic Hearing Loss
Most nonsyndromic hearing losses are caused by mutations in the GJB2 gene, and studies have revealed that the forms and frequencies of these mutations are largely dependent on ethnic origin. In the present study, we aimed to characterize the mutation profiles of 151 patients with hearing loss in Tur...
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| Veröffentlicht in: | Biochemical genetics 2010-04, Vol.48 (3-4), p.248-256 |
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| creator | Yilmaz, Akin Menevse, Sevda Bayazit, Yildirim Karamert, Recep Ergin, Volkan Menevse, Adnan |
| description | Most nonsyndromic hearing losses are caused by mutations in the GJB2 gene, and studies have revealed that the forms and frequencies of these mutations are largely dependent on ethnic origin. In the present study, we aimed to characterize the mutation profiles of 151 patients with hearing loss in Turkey. The entire coding region of the GJB2 was directly sequenced in all patients. We found 35 (23.2%) individuals carrying GJB2 mutations. Seven different mutations were identified, five of which were previously known (35delG, delE120, R184P, M163V, L90P), the remaining two being novel variants (M34V, L205V). The most common mutation was 35delG followed by delE120. The 35delG mutation was homozygous in 22 cases (14.5%) and heterozygous in 4 cases (2.6%). Compound heterozygosity for 35delG was also observed. The delE120 mutation was found in three patients in homozygous form. A homozygous L90P and heterozygous mutations M163V and M34V were found in single cases. |
| doi_str_mv | 10.1007/s10528-009-9314-7 |
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In the present study, we aimed to characterize the mutation profiles of 151 patients with hearing loss in Turkey. The entire coding region of the GJB2 was directly sequenced in all patients. We found 35 (23.2%) individuals carrying GJB2 mutations. Seven different mutations were identified, five of which were previously known (35delG, delE120, R184P, M163V, L90P), the remaining two being novel variants (M34V, L205V). The most common mutation was 35delG followed by delE120. The 35delG mutation was homozygous in 22 cases (14.5%) and heterozygous in 4 cases (2.6%). Compound heterozygosity for 35delG was also observed. The delE120 mutation was found in three patients in homozygous form. A homozygous L90P and heterozygous mutations M163V and M34V were found in single cases.</description><identifier>ISSN: 0006-2928</identifier><identifier>EISSN: 1573-4927</identifier><identifier>DOI: 10.1007/s10528-009-9314-7</identifier><identifier>PMID: 19941053</identifier><language>eng</language><publisher>Boston: Boston : Springer US</publisher><subject>Amino Acid Sequence ; Base Sequence ; Biochemistry ; Biomedical and Life Sciences ; Biomedicine ; Connexin 26 ; Connexins - genetics ; DNA Mutational Analysis ; Gene Frequency ; Genetic Testing ; Genotype ; Hearing loss ; Hearing Loss - genetics ; Human Genetics ; Humans ; Medical Microbiology ; Molecular Sequence Data ; Mutation ; Mutation, Missense - physiology ; Turkey ; Zoology</subject><ispartof>Biochemical genetics, 2010-04, Vol.48 (3-4), p.248-256</ispartof><rights>Springer Science+Business Media, LLC 2009</rights><rights>Springer Science+Business Media, LLC 2010</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c426t-45bb2735cef7ffdbea22615cec7d192e22e537f8b3fb18ce55b70fc88f8a54c43</citedby><cites>FETCH-LOGICAL-c426t-45bb2735cef7ffdbea22615cec7d192e22e537f8b3fb18ce55b70fc88f8a54c43</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://link.springer.com/content/pdf/10.1007/s10528-009-9314-7$$EPDF$$P50$$Gspringer$$H</linktopdf><linktohtml>$$Uhttps://link.springer.com/10.1007/s10528-009-9314-7$$EHTML$$P50$$Gspringer$$H</linktohtml><link.rule.ids>314,780,784,27924,27925,41488,42557,51319</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/19941053$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Yilmaz, Akin</creatorcontrib><creatorcontrib>Menevse, Sevda</creatorcontrib><creatorcontrib>Bayazit, Yildirim</creatorcontrib><creatorcontrib>Karamert, Recep</creatorcontrib><creatorcontrib>Ergin, Volkan</creatorcontrib><creatorcontrib>Menevse, Adnan</creatorcontrib><title>Two Novel Missense Mutations in the Connexin 26 Gene in Turkish Patients with Nonsyndromic Hearing Loss</title><title>Biochemical genetics</title><addtitle>Biochem Genet</addtitle><addtitle>Biochem Genet</addtitle><description>Most nonsyndromic hearing losses are caused by mutations in the GJB2 gene, and studies have revealed that the forms and frequencies of these mutations are largely dependent on ethnic origin. In the present study, we aimed to characterize the mutation profiles of 151 patients with hearing loss in Turkey. The entire coding region of the GJB2 was directly sequenced in all patients. We found 35 (23.2%) individuals carrying GJB2 mutations. Seven different mutations were identified, five of which were previously known (35delG, delE120, R184P, M163V, L90P), the remaining two being novel variants (M34V, L205V). The most common mutation was 35delG followed by delE120. The 35delG mutation was homozygous in 22 cases (14.5%) and heterozygous in 4 cases (2.6%). Compound heterozygosity for 35delG was also observed. The delE120 mutation was found in three patients in homozygous form. A homozygous L90P and heterozygous mutations M163V and M34V were found in single cases.</description><subject>Amino Acid Sequence</subject><subject>Base Sequence</subject><subject>Biochemistry</subject><subject>Biomedical and Life Sciences</subject><subject>Biomedicine</subject><subject>Connexin 26</subject><subject>Connexins - genetics</subject><subject>DNA Mutational Analysis</subject><subject>Gene Frequency</subject><subject>Genetic Testing</subject><subject>Genotype</subject><subject>Hearing loss</subject><subject>Hearing Loss - genetics</subject><subject>Human Genetics</subject><subject>Humans</subject><subject>Medical Microbiology</subject><subject>Molecular Sequence Data</subject><subject>Mutation</subject><subject>Mutation, Missense - physiology</subject><subject>Turkey</subject><subject>Zoology</subject><issn>0006-2928</issn><issn>1573-4927</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2010</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>eNqFkc1uEzEUhS0EoiHwAGzAYsNqwL9jzxJF0CKlgES6tjzOdeKS2MGeofTt8WgiVWIBK-tY3zlX9x6EXlLyjhKi3hdKJNMNIV3TcSoa9QgtqFS8ER1Tj9GCENI2rGP6Aj0r5bbKjgjxFF3QrhPVyxdot7lL-Ev6BQd8HUqBWABfj4MdQooFh4iHPeBVihF-V8FafAkRpv_NmH-EssffKgpxKPguDPuaFMt93OZ0DA5fgc0h7vA6lfIcPfH2UODF-V2im08fN6urZv318vPqw7pxgrVDI2TfM8WlA6-83_ZgGWtplU5taceAMZBced1z31PtQMpeEe-09tpK4QRfordz7imnnyOUwRxDcXA42AhpLEZJobt6NfJ_knOmuSAT-eYv8jaNOdY1DOO0ci1lFaIz5HJdN4M3pxyONt8bSszUlpnbMrUEM7VVByzRq3Pw2B9h--A411MBNgPlNF0S8sPkf6W-nk3eJmN3ORRz850RygnVlGve8j_fwahf</recordid><startdate>20100401</startdate><enddate>20100401</enddate><creator>Yilmaz, Akin</creator><creator>Menevse, Sevda</creator><creator>Bayazit, Yildirim</creator><creator>Karamert, Recep</creator><creator>Ergin, Volkan</creator><creator>Menevse, Adnan</creator><general>Boston : Springer US</general><general>Springer US</general><general>Springer Nature B.V</general><scope>FBQ</scope><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>7SS</scope><scope>7TK</scope><scope>7U7</scope><scope>7X7</scope><scope>7XB</scope><scope>88A</scope><scope>88E</scope><scope>8AO</scope><scope>8FD</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>C1K</scope><scope>CCPQU</scope><scope>DWQXO</scope><scope>FR3</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>P64</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>RC3</scope><scope>7X8</scope></search><sort><creationdate>20100401</creationdate><title>Two Novel Missense Mutations in the Connexin 26 Gene in Turkish Patients with Nonsyndromic Hearing Loss</title><author>Yilmaz, Akin ; 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In the present study, we aimed to characterize the mutation profiles of 151 patients with hearing loss in Turkey. The entire coding region of the GJB2 was directly sequenced in all patients. We found 35 (23.2%) individuals carrying GJB2 mutations. Seven different mutations were identified, five of which were previously known (35delG, delE120, R184P, M163V, L90P), the remaining two being novel variants (M34V, L205V). The most common mutation was 35delG followed by delE120. The 35delG mutation was homozygous in 22 cases (14.5%) and heterozygous in 4 cases (2.6%). Compound heterozygosity for 35delG was also observed. The delE120 mutation was found in three patients in homozygous form. A homozygous L90P and heterozygous mutations M163V and M34V were found in single cases.</abstract><cop>Boston</cop><pub>Boston : Springer US</pub><pmid>19941053</pmid><doi>10.1007/s10528-009-9314-7</doi><tpages>9</tpages></addata></record> |
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| ispartof | Biochemical genetics, 2010-04, Vol.48 (3-4), p.248-256 |
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| subjects | Amino Acid Sequence Base Sequence Biochemistry Biomedical and Life Sciences Biomedicine Connexin 26 Connexins - genetics DNA Mutational Analysis Gene Frequency Genetic Testing Genotype Hearing loss Hearing Loss - genetics Human Genetics Humans Medical Microbiology Molecular Sequence Data Mutation Mutation, Missense - physiology Turkey Zoology |
| title | Two Novel Missense Mutations in the Connexin 26 Gene in Turkish Patients with Nonsyndromic Hearing Loss |
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