Localization of a Novel Autosomal Recessive Non‐syndromic Hearing Impairment Locus DFNB63 to Chromosome 11q13.3‐q13.4
Summary Hereditary hearing impairment is the most genetically heterogeneous trait known in humans. So far, 50 published autosomal recessive non‐syndromic hearing impairment (ARNSHI) loci have been mapped, and 23 ARNSHI genes have been identified. Here, we report the mapping of a novel ARNSHI locus,...
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| Veröffentlicht in: | Annals of human genetics 2007-03, Vol.71 (2), p.271-275 |
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| container_title | Annals of human genetics |
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| creator | Tlili, A. Masmoudi, S. Dhouib, H. Bouaziz, S. Rebeh, I. Ben Chouchen, J. Turki, K. Benzina, Z. Charfedine, I. Drira, M. Ayadi, H. |
| description | Summary
Hereditary hearing impairment is the most genetically heterogeneous trait known in humans. So far, 50 published autosomal recessive non‐syndromic hearing impairment (ARNSHI) loci have been mapped, and 23 ARNSHI genes have been identified. Here, we report the mapping of a novel ARNSHI locus, DFNB63, to chromosome 11q13.3‐q13.4 in a large consanguineous Tunisian family. A maximum LOD score of 5.33 was obtained with microsatellite markers D11S916 and D11S4207. Haplotype analysis defined a 5.55 Mb critical region between microsatellite markers D11S4136 and D11S4081. DFNB63 represents the sixth ARNSHI locus mapped to chromosome 11. We positionally excluded MYO7A from being the DFNB63‐causative gene. In addition, the screening of two candidate genes, SHANK2 and KCNE3, failed to reveal any disease‐causing mutations. |
| doi_str_mv | 10.1111/j.1469-1809.2006.00337.x |
| format | Article |
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Hereditary hearing impairment is the most genetically heterogeneous trait known in humans. So far, 50 published autosomal recessive non‐syndromic hearing impairment (ARNSHI) loci have been mapped, and 23 ARNSHI genes have been identified. Here, we report the mapping of a novel ARNSHI locus, DFNB63, to chromosome 11q13.3‐q13.4 in a large consanguineous Tunisian family. A maximum LOD score of 5.33 was obtained with microsatellite markers D11S916 and D11S4207. Haplotype analysis defined a 5.55 Mb critical region between microsatellite markers D11S4136 and D11S4081. DFNB63 represents the sixth ARNSHI locus mapped to chromosome 11. We positionally excluded MYO7A from being the DFNB63‐causative gene. In addition, the screening of two candidate genes, SHANK2 and KCNE3, failed to reveal any disease‐causing mutations.</description><identifier>ISSN: 0003-4800</identifier><identifier>EISSN: 1469-1809</identifier><identifier>DOI: 10.1111/j.1469-1809.2006.00337.x</identifier><identifier>PMID: 17166180</identifier><language>eng</language><publisher>Oxford, UK: Blackwell Publishing Ltd</publisher><subject>Candidate gene ; Chromosome Mapping ; Chromosomes, Human, Pair 11 - genetics ; Consanguinity ; DFNB63 ; Female ; Genes, Recessive ; Haplotypes ; Hearing impairment ; Hearing Loss - genetics ; Humans ; Locus ; Lod Score ; Male ; Microsatellite Repeats ; Pedigree ; Tunisia</subject><ispartof>Annals of human genetics, 2007-03, Vol.71 (2), p.271-275</ispartof><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c4327-e8758e17a6d53f5eb32c49611d9b6034870e9aeddd3749bb6d0876bf864dbb8f3</citedby><cites>FETCH-LOGICAL-c4327-e8758e17a6d53f5eb32c49611d9b6034870e9aeddd3749bb6d0876bf864dbb8f3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://onlinelibrary.wiley.com/doi/pdf/10.1111%2Fj.1469-1809.2006.00337.x$$EPDF$$P50$$Gwiley$$H</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1111%2Fj.1469-1809.2006.00337.x$$EHTML$$P50$$Gwiley$$H</linktohtml><link.rule.ids>314,780,784,1417,1433,27924,27925,45574,45575,46409,46833</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/17166180$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Tlili, A.</creatorcontrib><creatorcontrib>Masmoudi, S.</creatorcontrib><creatorcontrib>Dhouib, H.</creatorcontrib><creatorcontrib>Bouaziz, S.</creatorcontrib><creatorcontrib>Rebeh, I. Ben</creatorcontrib><creatorcontrib>Chouchen, J.</creatorcontrib><creatorcontrib>Turki, K.</creatorcontrib><creatorcontrib>Benzina, Z.</creatorcontrib><creatorcontrib>Charfedine, I.</creatorcontrib><creatorcontrib>Drira, M.</creatorcontrib><creatorcontrib>Ayadi, H.</creatorcontrib><title>Localization of a Novel Autosomal Recessive Non‐syndromic Hearing Impairment Locus DFNB63 to Chromosome 11q13.3‐q13.4</title><title>Annals of human genetics</title><addtitle>Ann Hum Genet</addtitle><description>Summary
Hereditary hearing impairment is the most genetically heterogeneous trait known in humans. So far, 50 published autosomal recessive non‐syndromic hearing impairment (ARNSHI) loci have been mapped, and 23 ARNSHI genes have been identified. Here, we report the mapping of a novel ARNSHI locus, DFNB63, to chromosome 11q13.3‐q13.4 in a large consanguineous Tunisian family. A maximum LOD score of 5.33 was obtained with microsatellite markers D11S916 and D11S4207. Haplotype analysis defined a 5.55 Mb critical region between microsatellite markers D11S4136 and D11S4081. DFNB63 represents the sixth ARNSHI locus mapped to chromosome 11. We positionally excluded MYO7A from being the DFNB63‐causative gene. In addition, the screening of two candidate genes, SHANK2 and KCNE3, failed to reveal any disease‐causing mutations.</description><subject>Candidate gene</subject><subject>Chromosome Mapping</subject><subject>Chromosomes, Human, Pair 11 - genetics</subject><subject>Consanguinity</subject><subject>DFNB63</subject><subject>Female</subject><subject>Genes, Recessive</subject><subject>Haplotypes</subject><subject>Hearing impairment</subject><subject>Hearing Loss - genetics</subject><subject>Humans</subject><subject>Locus</subject><subject>Lod Score</subject><subject>Male</subject><subject>Microsatellite Repeats</subject><subject>Pedigree</subject><subject>Tunisia</subject><issn>0003-4800</issn><issn>1469-1809</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2007</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqNkEFu2zAQRYmiQeO4vULAVXZSSJGmKCAb16njAIYDBOmaoMRRQ0MSHVFyrK56hJ4xJwlVG-22s5kB580n8BDClMQ01PU2plxkEZUkixNCREwIY2l8-IAmfxcf0YSE54hLQs7RhfdbQmgiOfuEzmlKhQjQBA1rV-jK_tSddQ12JdZ44_ZQ4XnfOe9qXeFHKMB7u4ewad5-_fZDY1pX2wKvQLe2-YHv6522bQ1Nh0Nc7_HtcvNVMNw5vHgO6BgEmNIXymIWEsbOP6OzUlcevpz6FH1ffntarKL1w939Yr6OCs6SNAKZziTQVAszY-UMcpYUPBOUmiwXhHGZEsg0GGNYyrM8F4bIVOSlFNzkuSzZFF0dc3ete-nBd6q2voCq0g243iuRBXc0oQGUR7BonfctlGrX2lq3g6JEjdrVVo121WhXjdrVH-3qEE4vT3_0eQ3m3-HJcwBujsCrrWD472A1X92Fgb0DhEKRkA</recordid><startdate>200703</startdate><enddate>200703</enddate><creator>Tlili, A.</creator><creator>Masmoudi, S.</creator><creator>Dhouib, H.</creator><creator>Bouaziz, S.</creator><creator>Rebeh, I. Ben</creator><creator>Chouchen, J.</creator><creator>Turki, K.</creator><creator>Benzina, Z.</creator><creator>Charfedine, I.</creator><creator>Drira, M.</creator><creator>Ayadi, H.</creator><general>Blackwell Publishing 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>200703</creationdate><title>Localization of a Novel Autosomal Recessive Non‐syndromic Hearing Impairment Locus DFNB63 to Chromosome 11q13.3‐q13.4</title><author>Tlili, A. ; Masmoudi, S. ; Dhouib, H. ; Bouaziz, S. ; Rebeh, I. Ben ; Chouchen, J. ; Turki, K. ; Benzina, Z. ; Charfedine, I. ; Drira, M. ; Ayadi, H.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c4327-e8758e17a6d53f5eb32c49611d9b6034870e9aeddd3749bb6d0876bf864dbb8f3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2007</creationdate><topic>Candidate gene</topic><topic>Chromosome Mapping</topic><topic>Chromosomes, Human, Pair 11 - genetics</topic><topic>Consanguinity</topic><topic>DFNB63</topic><topic>Female</topic><topic>Genes, Recessive</topic><topic>Haplotypes</topic><topic>Hearing impairment</topic><topic>Hearing Loss - genetics</topic><topic>Humans</topic><topic>Locus</topic><topic>Lod Score</topic><topic>Male</topic><topic>Microsatellite Repeats</topic><topic>Pedigree</topic><topic>Tunisia</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Tlili, A.</creatorcontrib><creatorcontrib>Masmoudi, S.</creatorcontrib><creatorcontrib>Dhouib, H.</creatorcontrib><creatorcontrib>Bouaziz, S.</creatorcontrib><creatorcontrib>Rebeh, I. Ben</creatorcontrib><creatorcontrib>Chouchen, J.</creatorcontrib><creatorcontrib>Turki, K.</creatorcontrib><creatorcontrib>Benzina, Z.</creatorcontrib><creatorcontrib>Charfedine, I.</creatorcontrib><creatorcontrib>Drira, M.</creatorcontrib><creatorcontrib>Ayadi, H.</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>Annals of human genetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Tlili, A.</au><au>Masmoudi, S.</au><au>Dhouib, H.</au><au>Bouaziz, S.</au><au>Rebeh, I. Ben</au><au>Chouchen, J.</au><au>Turki, K.</au><au>Benzina, Z.</au><au>Charfedine, I.</au><au>Drira, M.</au><au>Ayadi, H.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Localization of a Novel Autosomal Recessive Non‐syndromic Hearing Impairment Locus DFNB63 to Chromosome 11q13.3‐q13.4</atitle><jtitle>Annals of human genetics</jtitle><addtitle>Ann Hum Genet</addtitle><date>2007-03</date><risdate>2007</risdate><volume>71</volume><issue>2</issue><spage>271</spage><epage>275</epage><pages>271-275</pages><issn>0003-4800</issn><eissn>1469-1809</eissn><abstract>Summary
Hereditary hearing impairment is the most genetically heterogeneous trait known in humans. So far, 50 published autosomal recessive non‐syndromic hearing impairment (ARNSHI) loci have been mapped, and 23 ARNSHI genes have been identified. Here, we report the mapping of a novel ARNSHI locus, DFNB63, to chromosome 11q13.3‐q13.4 in a large consanguineous Tunisian family. A maximum LOD score of 5.33 was obtained with microsatellite markers D11S916 and D11S4207. Haplotype analysis defined a 5.55 Mb critical region between microsatellite markers D11S4136 and D11S4081. DFNB63 represents the sixth ARNSHI locus mapped to chromosome 11. We positionally excluded MYO7A from being the DFNB63‐causative gene. In addition, the screening of two candidate genes, SHANK2 and KCNE3, failed to reveal any disease‐causing mutations.</abstract><cop>Oxford, UK</cop><pub>Blackwell Publishing Ltd</pub><pmid>17166180</pmid><doi>10.1111/j.1469-1809.2006.00337.x</doi><tpages>5</tpages></addata></record> |
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| ispartof | Annals of human genetics, 2007-03, Vol.71 (2), p.271-275 |
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| subjects | Candidate gene Chromosome Mapping Chromosomes, Human, Pair 11 - genetics Consanguinity DFNB63 Female Genes, Recessive Haplotypes Hearing impairment Hearing Loss - genetics Humans Locus Lod Score Male Microsatellite Repeats Pedigree Tunisia |
| title | Localization of a Novel Autosomal Recessive Non‐syndromic Hearing Impairment Locus DFNB63 to Chromosome 11q13.3‐q13.4 |
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