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The frequency of GJB2 and GJB6 mutations in the New York State newborn population: feasibility of genetic screening for hearing defects
In the US, approximately one in every 1000 children has hearing loss sufficiently severe to interfere with the acquisition of normal speech [Ann NY Acad Sci 630 (1991) 16]. The causes of non‐syndromic hearing loss (NSHL) are known to be heterogeneous, with genetic factors accounting for 50–75%[Am J...
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| Published in: | Clinical genetics 2004-04, Vol.65 (4), p.338-342 |
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| creator | Fitzgerald, T Duva, S Ostrer, H Pass, K Oddoux, C Ruben, R Caggana, M |
| description | In the US, approximately one in every 1000 children has hearing loss sufficiently severe to interfere with the acquisition of normal speech [Ann NY Acad Sci 630 (1991) 16]. The causes of non‐syndromic hearing loss (NSHL) are known to be heterogeneous, with genetic factors accounting for 50–75%[Am J Med Genet 46 (1993) 486]. Often individuals with NSHL thought to be caused by mutations in GJB2 have only one detectable mutant allele [Am J Hum Genet 62 (1998) 792, Hum Mol Genet 6 (12) (1997) 2173]. Another gene that has been identified as a possible cause of NSHL is GJB6 that codes for the gap junction protein, connexin 30. A consecutive series of anonymous newborn dried blood specimens (n = 2089) was tested for two GJB2 mutations: (i) 35delG, a pan‐ethnic mutation; and (ii) 167delT, a mutation more frequently found in individuals of Ashkenazi Jewish and Mediterranean descents. Mutation detection was validated using allele‐specific oligonucleotide hybridization in single wells. Once the positive samples had been identified, the samples were pooled and retested. All positives in the individual experiment were correctly identified in the pooled experiment. The same random set of anonymous newborn dried blood specimens plus some additional samples were tested (n = 2112) for the 342‐kb deletion in the GJB6 gene. |
| doi_str_mv | 10.1111/j.1399-0004.2004.00233.x |
| format | article |
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The causes of non‐syndromic hearing loss (NSHL) are known to be heterogeneous, with genetic factors accounting for 50–75%[Am J Med Genet 46 (1993) 486]. Often individuals with NSHL thought to be caused by mutations in GJB2 have only one detectable mutant allele [Am J Hum Genet 62 (1998) 792, Hum Mol Genet 6 (12) (1997) 2173]. Another gene that has been identified as a possible cause of NSHL is GJB6 that codes for the gap junction protein, connexin 30. A consecutive series of anonymous newborn dried blood specimens (n = 2089) was tested for two GJB2 mutations: (i) 35delG, a pan‐ethnic mutation; and (ii) 167delT, a mutation more frequently found in individuals of Ashkenazi Jewish and Mediterranean descents. Mutation detection was validated using allele‐specific oligonucleotide hybridization in single wells. Once the positive samples had been identified, the samples were pooled and retested. All positives in the individual experiment were correctly identified in the pooled experiment. The same random set of anonymous newborn dried blood specimens plus some additional samples were tested (n = 2112) for the 342‐kb deletion in the GJB6 gene.</description><identifier>ISSN: 0009-9163</identifier><identifier>EISSN: 1399-0004</identifier><identifier>DOI: 10.1111/j.1399-0004.2004.00233.x</identifier><identifier>PMID: 15025729</identifier><identifier>CODEN: CLGNAY</identifier><language>eng</language><publisher>Oxford, UK; Malden , USA: Munksgaard International Publishers</publisher><subject>Biological and medical sciences ; Connexin 26 ; Connexin 30 ; Connexins - genetics ; deafness ; DNA Mutational Analysis - methods ; Feasibility Studies ; Gene Frequency ; General aspects. Genetic counseling ; Genetic Testing - methods ; GJB2 ; GJB6 ; Hearing Loss - genetics ; Humans ; Infant, Newborn ; Medical genetics ; Medical sciences ; Mutation ; Neonatal Screening - methods ; New York - epidemiology ; Nucleic Acid Hybridization ; Oligonucleotide Array Sequence Analysis ; Reproducibility of Results ; Sequence Deletion</subject><ispartof>Clinical genetics, 2004-04, Vol.65 (4), p.338-342</ispartof><rights>2004 INIST-CNRS</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c4323-2c716aa9f2fe9c2db3439aacf3b68994fd503959c6a84c8eb9e6fee1ccd792f03</citedby><cites>FETCH-LOGICAL-c4323-2c716aa9f2fe9c2db3439aacf3b68994fd503959c6a84c8eb9e6fee1ccd792f03</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.1399-0004.2004.00233.x$$EPDF$$P50$$Gwiley$$H</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1111%2Fj.1399-0004.2004.00233.x$$EHTML$$P50$$Gwiley$$H</linktohtml><link.rule.ids>315,786,790,27957,27958,50923,51032</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=15594928$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/15025729$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Fitzgerald, T</creatorcontrib><creatorcontrib>Duva, S</creatorcontrib><creatorcontrib>Ostrer, H</creatorcontrib><creatorcontrib>Pass, K</creatorcontrib><creatorcontrib>Oddoux, C</creatorcontrib><creatorcontrib>Ruben, R</creatorcontrib><creatorcontrib>Caggana, M</creatorcontrib><title>The frequency of GJB2 and GJB6 mutations in the New York State newborn population: feasibility of genetic screening for hearing defects</title><title>Clinical genetics</title><addtitle>Clin Genet</addtitle><description>In the US, approximately one in every 1000 children has hearing loss sufficiently severe to interfere with the acquisition of normal speech [Ann NY Acad Sci 630 (1991) 16]. The causes of non‐syndromic hearing loss (NSHL) are known to be heterogeneous, with genetic factors accounting for 50–75%[Am J Med Genet 46 (1993) 486]. Often individuals with NSHL thought to be caused by mutations in GJB2 have only one detectable mutant allele [Am J Hum Genet 62 (1998) 792, Hum Mol Genet 6 (12) (1997) 2173]. Another gene that has been identified as a possible cause of NSHL is GJB6 that codes for the gap junction protein, connexin 30. A consecutive series of anonymous newborn dried blood specimens (n = 2089) was tested for two GJB2 mutations: (i) 35delG, a pan‐ethnic mutation; and (ii) 167delT, a mutation more frequently found in individuals of Ashkenazi Jewish and Mediterranean descents. Mutation detection was validated using allele‐specific oligonucleotide hybridization in single wells. Once the positive samples had been identified, the samples were pooled and retested. All positives in the individual experiment were correctly identified in the pooled experiment. The same random set of anonymous newborn dried blood specimens plus some additional samples were tested (n = 2112) for the 342‐kb deletion in the GJB6 gene.</description><subject>Biological and medical sciences</subject><subject>Connexin 26</subject><subject>Connexin 30</subject><subject>Connexins - genetics</subject><subject>deafness</subject><subject>DNA Mutational Analysis - methods</subject><subject>Feasibility Studies</subject><subject>Gene Frequency</subject><subject>General aspects. Genetic counseling</subject><subject>Genetic Testing - methods</subject><subject>GJB2</subject><subject>GJB6</subject><subject>Hearing Loss - genetics</subject><subject>Humans</subject><subject>Infant, Newborn</subject><subject>Medical genetics</subject><subject>Medical sciences</subject><subject>Mutation</subject><subject>Neonatal Screening - methods</subject><subject>New York - epidemiology</subject><subject>Nucleic Acid Hybridization</subject><subject>Oligonucleotide Array Sequence Analysis</subject><subject>Reproducibility of Results</subject><subject>Sequence Deletion</subject><issn>0009-9163</issn><issn>1399-0004</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2004</creationdate><recordtype>article</recordtype><recordid>eNqNks1uEzEQxy0EoqHwCsgXuG3wx34ZcaFR2RJV5UAR4mR5vePW6cYO9q6SPAGvXW8SFY744Blrfv8Ze8YIYUrmNK0PqznlQmSEkHzOpo0Qxvl89wzNngLP0SwZkQla8jP0KsZVOvKqEC_RGS0IKyomZujP7T1gE-D3CE7vsTe4WV4wrFw3OSVej4MarHcRW4eHxN7AFv_y4QF_TwHADratDw5v_GbsD-RHbEBF29reDoeEd-BgsBpHHQCcdXfY-IDvQYXJ78CAHuJr9MKoPsKbkz1HP75c3i6usutvzdfF5-tM55zxjOmKlkoJwwwIzbqW51wopQ1vy1qI3HQF4aIQulR1rmtoBZQGgGrdVYIZws_R-2PeTfDpzXGQaxs19L1y4McoK1pxUvAJrI-gDj7GAEZugl2rsJeUyGkIciWnXsup13IagjwMQe6S9O2pxtiuofsrPHU9Ae9OgIpa9SYop238hytELliduE9Hbmt72P_3BeSiuUxOkmdHuY0D7J7kKjzIsko_Qf68aWQulpQvmwvJ-SNUQrJV</recordid><startdate>200404</startdate><enddate>200404</enddate><creator>Fitzgerald, T</creator><creator>Duva, S</creator><creator>Ostrer, H</creator><creator>Pass, K</creator><creator>Oddoux, C</creator><creator>Ruben, R</creator><creator>Caggana, M</creator><general>Munksgaard International Publishers</general><general>Blackwell</general><scope>BSCLL</scope><scope>IQODW</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>7X8</scope></search><sort><creationdate>200404</creationdate><title>The frequency of GJB2 and GJB6 mutations in the New York State newborn population: feasibility of genetic screening for hearing defects</title><author>Fitzgerald, T ; Duva, S ; Ostrer, H ; Pass, K ; Oddoux, C ; Ruben, R ; Caggana, M</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c4323-2c716aa9f2fe9c2db3439aacf3b68994fd503959c6a84c8eb9e6fee1ccd792f03</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2004</creationdate><topic>Biological and medical sciences</topic><topic>Connexin 26</topic><topic>Connexin 30</topic><topic>Connexins - genetics</topic><topic>deafness</topic><topic>DNA Mutational Analysis - methods</topic><topic>Feasibility Studies</topic><topic>Gene Frequency</topic><topic>General aspects. Genetic counseling</topic><topic>Genetic Testing - methods</topic><topic>GJB2</topic><topic>GJB6</topic><topic>Hearing Loss - genetics</topic><topic>Humans</topic><topic>Infant, Newborn</topic><topic>Medical genetics</topic><topic>Medical sciences</topic><topic>Mutation</topic><topic>Neonatal Screening - methods</topic><topic>New York - epidemiology</topic><topic>Nucleic Acid Hybridization</topic><topic>Oligonucleotide Array Sequence Analysis</topic><topic>Reproducibility of Results</topic><topic>Sequence Deletion</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Fitzgerald, T</creatorcontrib><creatorcontrib>Duva, S</creatorcontrib><creatorcontrib>Ostrer, H</creatorcontrib><creatorcontrib>Pass, K</creatorcontrib><creatorcontrib>Oddoux, C</creatorcontrib><creatorcontrib>Ruben, R</creatorcontrib><creatorcontrib>Caggana, M</creatorcontrib><collection>Istex</collection><collection>Pascal-Francis</collection><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>Clinical genetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Fitzgerald, T</au><au>Duva, S</au><au>Ostrer, H</au><au>Pass, K</au><au>Oddoux, C</au><au>Ruben, R</au><au>Caggana, M</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>The frequency of GJB2 and GJB6 mutations in the New York State newborn population: feasibility of genetic screening for hearing defects</atitle><jtitle>Clinical genetics</jtitle><addtitle>Clin Genet</addtitle><date>2004-04</date><risdate>2004</risdate><volume>65</volume><issue>4</issue><spage>338</spage><epage>342</epage><pages>338-342</pages><issn>0009-9163</issn><eissn>1399-0004</eissn><coden>CLGNAY</coden><notes>ArticleID:CGE233</notes><notes>ark:/67375/WNG-49J13JGB-3</notes><notes>istex:67B9E3D1CC0ECF07D6A392CD1C49F3A2F319C540</notes><notes>ObjectType-Article-1</notes><notes>SourceType-Scholarly Journals-1</notes><notes>ObjectType-Feature-2</notes><notes>content type line 23</notes><notes>ObjectType-Undefined-3</notes><abstract>In the US, approximately one in every 1000 children has hearing loss sufficiently severe to interfere with the acquisition of normal speech [Ann NY Acad Sci 630 (1991) 16]. The causes of non‐syndromic hearing loss (NSHL) are known to be heterogeneous, with genetic factors accounting for 50–75%[Am J Med Genet 46 (1993) 486]. Often individuals with NSHL thought to be caused by mutations in GJB2 have only one detectable mutant allele [Am J Hum Genet 62 (1998) 792, Hum Mol Genet 6 (12) (1997) 2173]. Another gene that has been identified as a possible cause of NSHL is GJB6 that codes for the gap junction protein, connexin 30. A consecutive series of anonymous newborn dried blood specimens (n = 2089) was tested for two GJB2 mutations: (i) 35delG, a pan‐ethnic mutation; and (ii) 167delT, a mutation more frequently found in individuals of Ashkenazi Jewish and Mediterranean descents. Mutation detection was validated using allele‐specific oligonucleotide hybridization in single wells. Once the positive samples had been identified, the samples were pooled and retested. All positives in the individual experiment were correctly identified in the pooled experiment. The same random set of anonymous newborn dried blood specimens plus some additional samples were tested (n = 2112) for the 342‐kb deletion in the GJB6 gene.</abstract><cop>Oxford, UK; Malden , USA</cop><pub>Munksgaard International Publishers</pub><pmid>15025729</pmid><doi>10.1111/j.1399-0004.2004.00233.x</doi><tpages>5</tpages></addata></record> |
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| ispartof | Clinical genetics, 2004-04, Vol.65 (4), p.338-342 |
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| source | Wiley-Blackwell Journals |
| subjects | Biological and medical sciences Connexin 26 Connexin 30 Connexins - genetics deafness DNA Mutational Analysis - methods Feasibility Studies Gene Frequency General aspects. Genetic counseling Genetic Testing - methods GJB2 GJB6 Hearing Loss - genetics Humans Infant, Newborn Medical genetics Medical sciences Mutation Neonatal Screening - methods New York - epidemiology Nucleic Acid Hybridization Oligonucleotide Array Sequence Analysis Reproducibility of Results Sequence Deletion |
| title | The frequency of GJB2 and GJB6 mutations in the New York State newborn population: feasibility of genetic screening for hearing defects |
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