Two novel SLC26A4 mutations in Iranian families with autosomal recessive hearing loss
Abstract Objective Due to the fact that SLC26A4 has been suggested as the second cause of hearing loss (HL) in Iran as well as many other countries, obtaining more comprehensive information about SLC26A4 mutations can facilitate more efficient genetic services to the patients with hereditary hearing...
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| Veröffentlicht in: | International journal of pediatric otorhinolaryngology 2012-06, Vol.76 (6), p.845-850 |
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| container_title | International journal of pediatric otorhinolaryngology |
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| creator | Yazdanpanahi, Nasrin Chaleshtori, Morteza Hashemzadeh Tabatabaiefar, Mohammad Amin Noormohammadi, Zahra Farrokhi, Effat Najmabadi, Hossein Shahbazi, Shirin Hosseinipour, Azam |
| description | Abstract Objective Due to the fact that SLC26A4 has been suggested as the second cause of hearing loss (HL) in Iran as well as many other countries, obtaining more comprehensive information about SLC26A4 mutations can facilitate more efficient genetic services to the patients with hereditary hearing loss. This investigation aims to detect genetic cause of two Iranian families with hearing loss. Methods In the present study, genetic linkage analysis via 4 short tandem repeat markers linked to SLC26A4 was performed for two consanguineous families originating from Hormozgan and Chaharmahal va Bakhtiari provinces of Iran, co-segregating autosomal recessive hearing loss and showed no GJB2 mutations in our preliminary investigation. For identification of mutations, DNA sequencing of SLC26A4 including all the 21 exons, exon–intron boundaries and the promoter was carried out. Results The results showed linkage to this gene in both families. After sequencing, two novel SLC26A4 mutations (c.65-66insT in exon 2 and c.2106delG in exon 19) were revealed in the two studied families. Conclusion Results of this study stress the necessity of considering the analysis of SLC26A4 in molecular diagnosis of deafness especially when phenotypes such as goiter or enlarged vestibular aqueduct are present. |
| doi_str_mv | 10.1016/j.ijporl.2012.02.056 |
| format | Article |
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This investigation aims to detect genetic cause of two Iranian families with hearing loss. Methods In the present study, genetic linkage analysis via 4 short tandem repeat markers linked to SLC26A4 was performed for two consanguineous families originating from Hormozgan and Chaharmahal va Bakhtiari provinces of Iran, co-segregating autosomal recessive hearing loss and showed no GJB2 mutations in our preliminary investigation. For identification of mutations, DNA sequencing of SLC26A4 including all the 21 exons, exon–intron boundaries and the promoter was carried out. Results The results showed linkage to this gene in both families. After sequencing, two novel SLC26A4 mutations (c.65-66insT in exon 2 and c.2106delG in exon 19) were revealed in the two studied families. Conclusion Results of this study stress the necessity of considering the analysis of SLC26A4 in molecular diagnosis of deafness especially when phenotypes such as goiter or enlarged vestibular aqueduct are present.</description><identifier>ISSN: 0165-5876</identifier><identifier>EISSN: 1872-8464</identifier><identifier>DOI: 10.1016/j.ijporl.2012.02.056</identifier><identifier>PMID: 22444735</identifier><language>eng</language><publisher>Ireland: Elsevier Ireland Ltd</publisher><subject>Adult ; Audiometry, Pure-Tone ; Connexins ; Consanguinity ; Deafness ; Female ; Genetic Linkage ; Genetic Predisposition to Disease ; Genetic Testing ; Goiter, Nodular - genetics ; Goiter, Nodular - physiopathology ; Hearing Loss, Sensorineural - genetics ; Hearing Loss, Sensorineural - physiopathology ; Heterozygote ; Humans ; Iran ; Linkage analysis ; Male ; Membrane Transport Proteins - genetics ; Mutation ; Novel mutation ; Otolaryngology ; Pediatrics ; Pedigree ; Pendred syndrome (PS) ; Pendrin ; Polymerase Chain Reaction - methods ; Risk Assessment ; Sensitivity and Specificity ; Slc26a4 ; Young Adult</subject><ispartof>International journal of pediatric otorhinolaryngology, 2012-06, Vol.76 (6), p.845-850</ispartof><rights>Elsevier Ireland Ltd</rights><rights>2012 Elsevier Ireland Ltd</rights><rights>Copyright © 2012 Elsevier Ireland Ltd. All rights reserved.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c417t-6960c9a879e426666277a6cd836157ef4a20c6bf92091fb883f6b8e4c3031e0e3</citedby><cites>FETCH-LOGICAL-c417t-6960c9a879e426666277a6cd836157ef4a20c6bf92091fb883f6b8e4c3031e0e3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktohtml>$$Uhttps://www.sciencedirect.com/science/article/pii/S0165587612001498$$EHTML$$P50$$Gelsevier$$H</linktohtml><link.rule.ids>314,776,780,3537,27901,27902,65306</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/22444735$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Yazdanpanahi, Nasrin</creatorcontrib><creatorcontrib>Chaleshtori, Morteza Hashemzadeh</creatorcontrib><creatorcontrib>Tabatabaiefar, Mohammad Amin</creatorcontrib><creatorcontrib>Noormohammadi, Zahra</creatorcontrib><creatorcontrib>Farrokhi, Effat</creatorcontrib><creatorcontrib>Najmabadi, Hossein</creatorcontrib><creatorcontrib>Shahbazi, Shirin</creatorcontrib><creatorcontrib>Hosseinipour, Azam</creatorcontrib><title>Two novel SLC26A4 mutations in Iranian families with autosomal recessive hearing loss</title><title>International journal of pediatric otorhinolaryngology</title><addtitle>Int J Pediatr Otorhinolaryngol</addtitle><description>Abstract Objective Due to the fact that SLC26A4 has been suggested as the second cause of hearing loss (HL) in Iran as well as many other countries, obtaining more comprehensive information about SLC26A4 mutations can facilitate more efficient genetic services to the patients with hereditary hearing loss. This investigation aims to detect genetic cause of two Iranian families with hearing loss. Methods In the present study, genetic linkage analysis via 4 short tandem repeat markers linked to SLC26A4 was performed for two consanguineous families originating from Hormozgan and Chaharmahal va Bakhtiari provinces of Iran, co-segregating autosomal recessive hearing loss and showed no GJB2 mutations in our preliminary investigation. For identification of mutations, DNA sequencing of SLC26A4 including all the 21 exons, exon–intron boundaries and the promoter was carried out. Results The results showed linkage to this gene in both families. After sequencing, two novel SLC26A4 mutations (c.65-66insT in exon 2 and c.2106delG in exon 19) were revealed in the two studied families. Conclusion Results of this study stress the necessity of considering the analysis of SLC26A4 in molecular diagnosis of deafness especially when phenotypes such as goiter or enlarged vestibular aqueduct are present.</description><subject>Adult</subject><subject>Audiometry, Pure-Tone</subject><subject>Connexins</subject><subject>Consanguinity</subject><subject>Deafness</subject><subject>Female</subject><subject>Genetic Linkage</subject><subject>Genetic Predisposition to Disease</subject><subject>Genetic Testing</subject><subject>Goiter, Nodular - genetics</subject><subject>Goiter, Nodular - physiopathology</subject><subject>Hearing Loss, Sensorineural - genetics</subject><subject>Hearing Loss, Sensorineural - physiopathology</subject><subject>Heterozygote</subject><subject>Humans</subject><subject>Iran</subject><subject>Linkage analysis</subject><subject>Male</subject><subject>Membrane Transport Proteins - genetics</subject><subject>Mutation</subject><subject>Novel mutation</subject><subject>Otolaryngology</subject><subject>Pediatrics</subject><subject>Pedigree</subject><subject>Pendred syndrome (PS)</subject><subject>Pendrin</subject><subject>Polymerase Chain Reaction - methods</subject><subject>Risk Assessment</subject><subject>Sensitivity and Specificity</subject><subject>Slc26a4</subject><subject>Young Adult</subject><issn>0165-5876</issn><issn>1872-8464</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2012</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFkUFvFCEUx4nR2LX6DYzh6GVWYBhgLibNpmqTTTy0PROWfWPfyMAKM9v028tmqwcvkpdw-f3fg98j5D1na864-jSucTykHNaCcbFmtTr1gqy40aIxUsmXZFWxrumMVhfkTSkjY1yzrntNLoSQUuq2W5H7u8dEYzpCoLfbjVBXkk7L7GZMsVCM9Ca7iC7SwU0YEAp9xPmBumVOJU0u0AweSsEj0AdwGeMPGlIpb8mrwYUC757vS3L_5fpu863Zfv96s7naNl5yPTeqV8z3zugepFD1CK2d8nvTKt5pGKQTzKvd0AvW82FnTDuonQHpW9ZyYNBeko_nvoecfi1QZjth8RCCi5CWYqsorQTXsq-oPKM-1wdmGOwh4-TyU4VOnLKjPQu1J6GW1epUjX14nrDsJtj_Df0xWIHPZwDqP48I2RaPED3ssbqZ7T7h_yb828AHjOhd-AlPUMa05FgdWm5LDdjb01JPO-Wi7lP2pv0NUcqcug</recordid><startdate>20120601</startdate><enddate>20120601</enddate><creator>Yazdanpanahi, Nasrin</creator><creator>Chaleshtori, Morteza Hashemzadeh</creator><creator>Tabatabaiefar, Mohammad Amin</creator><creator>Noormohammadi, Zahra</creator><creator>Farrokhi, Effat</creator><creator>Najmabadi, Hossein</creator><creator>Shahbazi, Shirin</creator><creator>Hosseinipour, Azam</creator><general>Elsevier Ireland Ltd</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>7X8</scope></search><sort><creationdate>20120601</creationdate><title>Two novel SLC26A4 mutations in Iranian families with autosomal recessive hearing loss</title><author>Yazdanpanahi, Nasrin ; Chaleshtori, Morteza Hashemzadeh ; Tabatabaiefar, Mohammad Amin ; Noormohammadi, Zahra ; Farrokhi, Effat ; Najmabadi, Hossein ; Shahbazi, Shirin ; Hosseinipour, Azam</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c417t-6960c9a879e426666277a6cd836157ef4a20c6bf92091fb883f6b8e4c3031e0e3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2012</creationdate><topic>Adult</topic><topic>Audiometry, Pure-Tone</topic><topic>Connexins</topic><topic>Consanguinity</topic><topic>Deafness</topic><topic>Female</topic><topic>Genetic Linkage</topic><topic>Genetic Predisposition to Disease</topic><topic>Genetic Testing</topic><topic>Goiter, Nodular - genetics</topic><topic>Goiter, Nodular - physiopathology</topic><topic>Hearing Loss, Sensorineural - genetics</topic><topic>Hearing Loss, Sensorineural - physiopathology</topic><topic>Heterozygote</topic><topic>Humans</topic><topic>Iran</topic><topic>Linkage analysis</topic><topic>Male</topic><topic>Membrane Transport Proteins - genetics</topic><topic>Mutation</topic><topic>Novel mutation</topic><topic>Otolaryngology</topic><topic>Pediatrics</topic><topic>Pedigree</topic><topic>Pendred syndrome (PS)</topic><topic>Pendrin</topic><topic>Polymerase Chain Reaction - methods</topic><topic>Risk Assessment</topic><topic>Sensitivity and Specificity</topic><topic>Slc26a4</topic><topic>Young Adult</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Yazdanpanahi, Nasrin</creatorcontrib><creatorcontrib>Chaleshtori, Morteza Hashemzadeh</creatorcontrib><creatorcontrib>Tabatabaiefar, Mohammad Amin</creatorcontrib><creatorcontrib>Noormohammadi, Zahra</creatorcontrib><creatorcontrib>Farrokhi, Effat</creatorcontrib><creatorcontrib>Najmabadi, Hossein</creatorcontrib><creatorcontrib>Shahbazi, Shirin</creatorcontrib><creatorcontrib>Hosseinipour, Azam</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><jtitle>International journal of pediatric otorhinolaryngology</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Yazdanpanahi, Nasrin</au><au>Chaleshtori, Morteza Hashemzadeh</au><au>Tabatabaiefar, Mohammad Amin</au><au>Noormohammadi, Zahra</au><au>Farrokhi, Effat</au><au>Najmabadi, Hossein</au><au>Shahbazi, Shirin</au><au>Hosseinipour, Azam</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Two novel SLC26A4 mutations in Iranian families with autosomal recessive hearing loss</atitle><jtitle>International journal of pediatric otorhinolaryngology</jtitle><addtitle>Int J Pediatr Otorhinolaryngol</addtitle><date>2012-06-01</date><risdate>2012</risdate><volume>76</volume><issue>6</issue><spage>845</spage><epage>850</epage><pages>845-850</pages><issn>0165-5876</issn><eissn>1872-8464</eissn><abstract>Abstract Objective Due to the fact that SLC26A4 has been suggested as the second cause of hearing loss (HL) in Iran as well as many other countries, obtaining more comprehensive information about SLC26A4 mutations can facilitate more efficient genetic services to the patients with hereditary hearing loss. This investigation aims to detect genetic cause of two Iranian families with hearing loss. Methods In the present study, genetic linkage analysis via 4 short tandem repeat markers linked to SLC26A4 was performed for two consanguineous families originating from Hormozgan and Chaharmahal va Bakhtiari provinces of Iran, co-segregating autosomal recessive hearing loss and showed no GJB2 mutations in our preliminary investigation. For identification of mutations, DNA sequencing of SLC26A4 including all the 21 exons, exon–intron boundaries and the promoter was carried out. Results The results showed linkage to this gene in both families. After sequencing, two novel SLC26A4 mutations (c.65-66insT in exon 2 and c.2106delG in exon 19) were revealed in the two studied families. Conclusion Results of this study stress the necessity of considering the analysis of SLC26A4 in molecular diagnosis of deafness especially when phenotypes such as goiter or enlarged vestibular aqueduct are present.</abstract><cop>Ireland</cop><pub>Elsevier Ireland Ltd</pub><pmid>22444735</pmid><doi>10.1016/j.ijporl.2012.02.056</doi><tpages>6</tpages></addata></record> |
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| identifier | ISSN: 0165-5876 |
| ispartof | International journal of pediatric otorhinolaryngology, 2012-06, Vol.76 (6), p.845-850 |
| issn | 0165-5876 1872-8464 |
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| subjects | Adult Audiometry, Pure-Tone Connexins Consanguinity Deafness Female Genetic Linkage Genetic Predisposition to Disease Genetic Testing Goiter, Nodular - genetics Goiter, Nodular - physiopathology Hearing Loss, Sensorineural - genetics Hearing Loss, Sensorineural - physiopathology Heterozygote Humans Iran Linkage analysis Male Membrane Transport Proteins - genetics Mutation Novel mutation Otolaryngology Pediatrics Pedigree Pendred syndrome (PS) Pendrin Polymerase Chain Reaction - methods Risk Assessment Sensitivity and Specificity Slc26a4 Young Adult |
| title | Two novel SLC26A4 mutations in Iranian families with autosomal recessive hearing loss |
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