Detection of 35delG, 167delT mutations in the connexin 26 gene among Egyptian patients with nonsyndromic sensorineural hearing loss
En Aim The aim of this study was to detect 35delG and 167delT mutations in the connexin 26 gene among Egyptian patients with nonsyndromic sensorineural hearing loss, allowing accurate diagnosis, proper genetic counseling, and carrier detection. Patients and methods Fifty-one patients were subjected...
Gespeichert in:
| Veröffentlicht in: | The Egyptian journal of otolaryngology 2015, Vol.31 (1), p.42-46 |
|---|---|
| Hauptverfasser: | , , , |
| Format: | Artikel |
| Sprache: | eng |
| Schlagworte: | |
| Online-Zugang: | Volltext |
| Tags: |
Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
|
| container_end_page | 46 |
|---|---|
| container_issue | 1 |
| container_start_page | 42 |
| container_title | The Egyptian journal of otolaryngology |
| container_volume | 31 |
| creator | El Barbary, Nehal E. El Belbesy, Mervat F. Asal, Samir I. Kholeif, Soha F. |
| description | En
Aim
The aim of this study was to detect 35delG and 167delT mutations in the connexin 26 gene among Egyptian patients with nonsyndromic sensorineural hearing loss, allowing accurate diagnosis, proper genetic counseling, and carrier detection.
Patients and methods
Fifty-one patients were subjected to 35delG and 167delT mutations detection using PCR-based techniques.
Results
Seven patients had the 35delG mutation. Four patients were homozygous and four patients were heterozygous for this deletion. Two homozygotes were sibs and two heterozygotes were sibs as well. The allelic frequency for 35delG was 10.8%. The 167delT was not detected in any of the patients studied.
Conclusion
The 35delG is a common pathogenic mutation and an important contributor toward autosomal recessive nonsyndromic hearing loss in the Egyptian population. |
| doi_str_mv | 10.4103/1012-5574.152707 |
| format | Article |
| fullrecord | <record><control><sourceid>proquest_cross</sourceid><recordid>TN_cdi_proquest_journals_2786132045</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>2786132045</sourcerecordid><originalsourceid>FETCH-LOGICAL-c285t-759124ee3b9975e6009fe017577d2949210d060c2b1927c8e829cf962aade9453</originalsourceid><addsrcrecordid>eNp1UMFOwzAMjRBITGN3jpG40uGkTdMc0RgDaRKXca6y1u06bUlJMsHO_DgpQ3DCF9vye8_2I-SawTRjkN4xYDwRQmZTJrgEeUZGHBQkhUjVORn9ji_JxPstxJAZ8JSNyOcDBqxCZw21DU1FjbvFLWW5jMWK7g9BDzNPO0PDBmlljcGP2PCctmiQ6r01LZ23xz502tA-wtEET9-7sKEmMo-mdnbfVdSj8dZ1Bg9O7-gGdaxburPeX5GLRu88Tn7ymLw-zlezp2T5snie3S-TihciJFIoxjPEdK2UFJgDqAaBSSFlzVWmOIMacqj4mikuqwILrqpG5VzrGlUm0jG5Oen2zr4d0Idyaw_OxJUll0XOUg7fKDihKhdvc9iUvev22h1LBuXgdjnYWQ52lie3I4WdKL4fnkL3J_wv5wt0a4Ba</addsrcrecordid><sourcetype>Aggregation Database</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>2786132045</pqid></control><display><type>article</type><title>Detection of 35delG, 167delT mutations in the connexin 26 gene among Egyptian patients with nonsyndromic sensorineural hearing loss</title><source>DOAJ Directory of Open Access Journals</source><source>EZB-FREE-00999 freely available EZB journals</source><source>Springer Nature OA Free Journals</source><creator>El Barbary, Nehal E. ; El Belbesy, Mervat F. ; Asal, Samir I. ; Kholeif, Soha F.</creator><creatorcontrib>El Barbary, Nehal E. ; El Belbesy, Mervat F. ; Asal, Samir I. ; Kholeif, Soha F.</creatorcontrib><description>En
Aim
The aim of this study was to detect 35delG and 167delT mutations in the connexin 26 gene among Egyptian patients with nonsyndromic sensorineural hearing loss, allowing accurate diagnosis, proper genetic counseling, and carrier detection.
Patients and methods
Fifty-one patients were subjected to 35delG and 167delT mutations detection using PCR-based techniques.
Results
Seven patients had the 35delG mutation. Four patients were homozygous and four patients were heterozygous for this deletion. Two homozygotes were sibs and two heterozygotes were sibs as well. The allelic frequency for 35delG was 10.8%. The 167delT was not detected in any of the patients studied.
Conclusion
The 35delG is a common pathogenic mutation and an important contributor toward autosomal recessive nonsyndromic hearing loss in the Egyptian population.</description><identifier>ISSN: 1012-5574</identifier><identifier>EISSN: 2090-8539</identifier><identifier>DOI: 10.4103/1012-5574.152707</identifier><language>eng</language><publisher>Berlin/Heidelberg: Springer Berlin Heidelberg</publisher><subject>Medicine & Public Health ; Original Article ; Surgery</subject><ispartof>The Egyptian journal of otolaryngology, 2015, Vol.31 (1), p.42-46</ispartof><rights>The Egyptian Oto - Rhino - Laryngological Society 2015</rights><rights>The Egyptian Oto - Rhino - Laryngological Society 2015. This work is published under http://creativecommons.org/licenses/by/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c285t-759124ee3b9975e6009fe017577d2949210d060c2b1927c8e829cf962aade9453</citedby><cites>FETCH-LOGICAL-c285t-759124ee3b9975e6009fe017577d2949210d060c2b1927c8e829cf962aade9453</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://link.springer.com/content/pdf/10.4103/1012-5574.152707$$EPDF$$P50$$Gspringer$$Hfree_for_read</linktopdf><linktohtml>$$Uhttps://doi.org/10.4103/1012-5574.152707$$EHTML$$P50$$Gspringer$$Hfree_for_read</linktohtml><link.rule.ids>314,776,780,860,27901,27902,41096,42165,51551</link.rule.ids></links><search><creatorcontrib>El Barbary, Nehal E.</creatorcontrib><creatorcontrib>El Belbesy, Mervat F.</creatorcontrib><creatorcontrib>Asal, Samir I.</creatorcontrib><creatorcontrib>Kholeif, Soha F.</creatorcontrib><title>Detection of 35delG, 167delT mutations in the connexin 26 gene among Egyptian patients with nonsyndromic sensorineural hearing loss</title><title>The Egyptian journal of otolaryngology</title><addtitle>Egypt J Otolaryngol</addtitle><description>En
Aim
The aim of this study was to detect 35delG and 167delT mutations in the connexin 26 gene among Egyptian patients with nonsyndromic sensorineural hearing loss, allowing accurate diagnosis, proper genetic counseling, and carrier detection.
Patients and methods
Fifty-one patients were subjected to 35delG and 167delT mutations detection using PCR-based techniques.
Results
Seven patients had the 35delG mutation. Four patients were homozygous and four patients were heterozygous for this deletion. Two homozygotes were sibs and two heterozygotes were sibs as well. The allelic frequency for 35delG was 10.8%. The 167delT was not detected in any of the patients studied.
Conclusion
The 35delG is a common pathogenic mutation and an important contributor toward autosomal recessive nonsyndromic hearing loss in the Egyptian population.</description><subject>Medicine & Public Health</subject><subject>Original Article</subject><subject>Surgery</subject><issn>1012-5574</issn><issn>2090-8539</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2015</creationdate><recordtype>article</recordtype><sourceid>C6C</sourceid><sourceid>BENPR</sourceid><recordid>eNp1UMFOwzAMjRBITGN3jpG40uGkTdMc0RgDaRKXca6y1u06bUlJMsHO_DgpQ3DCF9vye8_2I-SawTRjkN4xYDwRQmZTJrgEeUZGHBQkhUjVORn9ji_JxPstxJAZ8JSNyOcDBqxCZw21DU1FjbvFLWW5jMWK7g9BDzNPO0PDBmlljcGP2PCctmiQ6r01LZ23xz502tA-wtEET9-7sKEmMo-mdnbfVdSj8dZ1Bg9O7-gGdaxburPeX5GLRu88Tn7ymLw-zlezp2T5snie3S-TihciJFIoxjPEdK2UFJgDqAaBSSFlzVWmOIMacqj4mikuqwILrqpG5VzrGlUm0jG5Oen2zr4d0Idyaw_OxJUll0XOUg7fKDihKhdvc9iUvev22h1LBuXgdjnYWQ52lie3I4WdKL4fnkL3J_wv5wt0a4Ba</recordid><startdate>2015</startdate><enddate>2015</enddate><creator>El Barbary, Nehal E.</creator><creator>El Belbesy, Mervat F.</creator><creator>Asal, Samir I.</creator><creator>Kholeif, Soha F.</creator><general>Springer Berlin Heidelberg</general><general>Springer Nature B.V</general><scope>C6C</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>3V.</scope><scope>7X7</scope><scope>7XB</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>AZQEC</scope><scope>BENPR</scope><scope>CCPQU</scope><scope>DWQXO</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>K9.</scope><scope>M0S</scope><scope>PIMPY</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope></search><sort><creationdate>2015</creationdate><title>Detection of 35delG, 167delT mutations in the connexin 26 gene among Egyptian patients with nonsyndromic sensorineural hearing loss</title><author>El Barbary, Nehal E. ; El Belbesy, Mervat F. ; Asal, Samir I. ; Kholeif, Soha F.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c285t-759124ee3b9975e6009fe017577d2949210d060c2b1927c8e829cf962aade9453</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2015</creationdate><topic>Medicine & Public Health</topic><topic>Original Article</topic><topic>Surgery</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>El Barbary, Nehal E.</creatorcontrib><creatorcontrib>El Belbesy, Mervat F.</creatorcontrib><creatorcontrib>Asal, Samir I.</creatorcontrib><creatorcontrib>Kholeif, Soha F.</creatorcontrib><collection>Springer Nature OA Free Journals</collection><collection>CrossRef</collection><collection>ProQuest Central (Corporate)</collection><collection>Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Hospital Premium Collection</collection><collection>Hospital Premium Collection (Alumni Edition)</collection><collection>ProQuest Central (Alumni) (purchase pre-March 2016)</collection><collection>ProQuest Central (Alumni Edition)</collection><collection>ProQuest Central UK/Ireland</collection><collection>ProQuest Central Essentials</collection><collection>ProQuest Central</collection><collection>ProQuest One Community College</collection><collection>ProQuest Central Korea</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>Publicly Available Content Database</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>ProQuest Central China</collection><jtitle>The Egyptian journal of otolaryngology</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>El Barbary, Nehal E.</au><au>El Belbesy, Mervat F.</au><au>Asal, Samir I.</au><au>Kholeif, Soha F.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Detection of 35delG, 167delT mutations in the connexin 26 gene among Egyptian patients with nonsyndromic sensorineural hearing loss</atitle><jtitle>The Egyptian journal of otolaryngology</jtitle><stitle>Egypt J Otolaryngol</stitle><date>2015</date><risdate>2015</risdate><volume>31</volume><issue>1</issue><spage>42</spage><epage>46</epage><pages>42-46</pages><issn>1012-5574</issn><eissn>2090-8539</eissn><abstract>En
Aim
The aim of this study was to detect 35delG and 167delT mutations in the connexin 26 gene among Egyptian patients with nonsyndromic sensorineural hearing loss, allowing accurate diagnosis, proper genetic counseling, and carrier detection.
Patients and methods
Fifty-one patients were subjected to 35delG and 167delT mutations detection using PCR-based techniques.
Results
Seven patients had the 35delG mutation. Four patients were homozygous and four patients were heterozygous for this deletion. Two homozygotes were sibs and two heterozygotes were sibs as well. The allelic frequency for 35delG was 10.8%. The 167delT was not detected in any of the patients studied.
Conclusion
The 35delG is a common pathogenic mutation and an important contributor toward autosomal recessive nonsyndromic hearing loss in the Egyptian population.</abstract><cop>Berlin/Heidelberg</cop><pub>Springer Berlin Heidelberg</pub><doi>10.4103/1012-5574.152707</doi><tpages>5</tpages><oa>free_for_read</oa></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 1012-5574 |
| ispartof | The Egyptian journal of otolaryngology, 2015, Vol.31 (1), p.42-46 |
| issn | 1012-5574 2090-8539 |
| language | eng |
| recordid | cdi_proquest_journals_2786132045 |
| source | DOAJ Directory of Open Access Journals; EZB-FREE-00999 freely available EZB journals; Springer Nature OA Free Journals |
| subjects | Medicine & Public Health Original Article Surgery |
| title | Detection of 35delG, 167delT mutations in the connexin 26 gene among Egyptian patients with nonsyndromic sensorineural hearing loss |
| url | https://sfx.bib-bvb.de/sfx_tum?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2025-01-29T15%3A15%3A06IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-proquest_cross&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=Detection%20of%2035delG,%20167delT%20mutations%20in%20the%20connexin%2026%20gene%20among%20Egyptian%20patients%20with%20nonsyndromic%20sensorineural%20hearing%20loss&rft.jtitle=The%20Egyptian%20journal%20of%20otolaryngology&rft.au=El%20Barbary,%20Nehal%20E.&rft.date=2015&rft.volume=31&rft.issue=1&rft.spage=42&rft.epage=46&rft.pages=42-46&rft.issn=1012-5574&rft.eissn=2090-8539&rft_id=info:doi/10.4103/1012-5574.152707&rft_dat=%3Cproquest_cross%3E2786132045%3C/proquest_cross%3E%3Curl%3E%3C/url%3E&disable_directlink=true&sfx.directlink=off&sfx.report_link=0&rft_id=info:oai/&rft_pqid=2786132045&rft_id=info:pmid/&rfr_iscdi=true |