A New Locus for Autosomal Dominant Dilated Cardiomyopathy Identified on Chromosome 6q12-q16
Dilated cardiomyopathy (DCM) is a heart-muscle disease characterized by ventricular dilatation and impaired heart contraction and is heterogeneous both clinically and genetically. To date, 12 candidate disease loci have been described for autosomal dominant DCM. We report the identification of a new...
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| Veröffentlicht in: | American journal of human genetics 2001, Vol.68 (1), p.241-246 |
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| creator | Sylvius, N. Tesson, F. Gayet, C. Charron, P. Bénaïche, A. Mangin, L. Peuchmaurd, M. Duboscq-Bidot, L. Feingold, J. Beckmann, J.S. Bouchier, C. Komajda, M. |
| description | Dilated cardiomyopathy (DCM) is a heart-muscle disease characterized by ventricular dilatation and impaired heart contraction and is heterogeneous both clinically and genetically. To date, 12 candidate disease loci have been described for autosomal dominant DCM. We report the identification of a new locus on chromosome 6q12-16 in a French family with 9 individuals affected by the pure form of autosomal dominant DCM. This locus was found by using a genomewide search after exclusion of all reported disease loci and genes for DCM. The maximum pairwise LOD score was 3.52 at recombination fraction 0.0 for markers D6S1644 and D6S1694. Haplotype construction delineated a region of 16.4 cM between markers D6S1627 and D6S1716. This locus does not overlap with two other disease loci that have been described in nonpure forms of DCM and have been mapped on 6q23-24 and 6q23. The phospholamban, malic enzyme 1–soluble, and laminin-α4 genes were excluded as candidate genes, using single-strand conformation polymorphism or linkage analysis. |
| doi_str_mv | 10.1086/316929 |
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To date, 12 candidate disease loci have been described for autosomal dominant DCM. We report the identification of a new locus on chromosome 6q12-16 in a French family with 9 individuals affected by the pure form of autosomal dominant DCM. This locus was found by using a genomewide search after exclusion of all reported disease loci and genes for DCM. The maximum pairwise LOD score was 3.52 at recombination fraction 0.0 for markers D6S1644 and D6S1694. Haplotype construction delineated a region of 16.4 cM between markers D6S1627 and D6S1716. This locus does not overlap with two other disease loci that have been described in nonpure forms of DCM and have been mapped on 6q23-24 and 6q23. The phospholamban, malic enzyme 1–soluble, and laminin-α4 genes were excluded as candidate genes, using single-strand conformation polymorphism or linkage analysis.</description><identifier>ISSN: 0002-9297</identifier><identifier>EISSN: 1537-6605</identifier><identifier>DOI: 10.1086/316929</identifier><identifier>PMID: 11085912</identifier><identifier>CODEN: AJHGAG</identifier><language>eng</language><publisher>Chicago, IL: Elsevier Inc</publisher><subject>Adolescent ; Adult ; Aged ; Biological and medical sciences ; Calcium-Binding Proteins - genetics ; Cardiology. Vascular system ; Cardiomyopathy, Dilated - genetics ; Chromosome Mapping ; Chromosomes, Human, Pair 6 - genetics ; Female ; France ; Genes, Dominant - genetics ; Genetic Markers - genetics ; Haplotypes - genetics ; Heart ; Humans ; Laminin - genetics ; Lod Score ; Malate Dehydrogenase - genetics ; Male ; Medical sciences ; Middle Aged ; Molecular Sequence Data ; Myocarditis. 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All rights reserved. 2001</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c3469-196c87388f6748fa3bf05f11dfe30c66bb7b5783ab8da651fad2f37ffc94acb83</citedby><cites>FETCH-LOGICAL-c3469-196c87388f6748fa3bf05f11dfe30c66bb7b5783ab8da651fad2f37ffc94acb83</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC1234920/pdf/$$EPDF$$P50$$Gpubmedcentral$$H</linktopdf><linktohtml>$$Uhttps://dx.doi.org/10.1086/316929$$EHTML$$P50$$Gelsevier$$Hfree_for_read</linktohtml><link.rule.ids>230,309,310,314,727,780,784,789,790,885,3548,4022,4048,4049,23928,23929,25138,27921,27922,27923,45993,53789,53791</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=873292$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/11085912$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Sylvius, N.</creatorcontrib><creatorcontrib>Tesson, F.</creatorcontrib><creatorcontrib>Gayet, C.</creatorcontrib><creatorcontrib>Charron, P.</creatorcontrib><creatorcontrib>Bénaïche, A.</creatorcontrib><creatorcontrib>Mangin, L.</creatorcontrib><creatorcontrib>Peuchmaurd, M.</creatorcontrib><creatorcontrib>Duboscq-Bidot, L.</creatorcontrib><creatorcontrib>Feingold, J.</creatorcontrib><creatorcontrib>Beckmann, J.S.</creatorcontrib><creatorcontrib>Bouchier, C.</creatorcontrib><creatorcontrib>Komajda, M.</creatorcontrib><title>A New Locus for Autosomal Dominant Dilated Cardiomyopathy Identified on Chromosome 6q12-q16</title><title>American journal of human genetics</title><addtitle>Am J Hum Genet</addtitle><description>Dilated cardiomyopathy (DCM) is a heart-muscle disease characterized by ventricular dilatation and impaired heart contraction and is heterogeneous both clinically and genetically. To date, 12 candidate disease loci have been described for autosomal dominant DCM. We report the identification of a new locus on chromosome 6q12-16 in a French family with 9 individuals affected by the pure form of autosomal dominant DCM. This locus was found by using a genomewide search after exclusion of all reported disease loci and genes for DCM. The maximum pairwise LOD score was 3.52 at recombination fraction 0.0 for markers D6S1644 and D6S1694. Haplotype construction delineated a region of 16.4 cM between markers D6S1627 and D6S1716. This locus does not overlap with two other disease loci that have been described in nonpure forms of DCM and have been mapped on 6q23-24 and 6q23. The phospholamban, malic enzyme 1–soluble, and laminin-α4 genes were excluded as candidate genes, using single-strand conformation polymorphism or linkage analysis.</description><subject>Adolescent</subject><subject>Adult</subject><subject>Aged</subject><subject>Biological and medical sciences</subject><subject>Calcium-Binding Proteins - genetics</subject><subject>Cardiology. Vascular system</subject><subject>Cardiomyopathy, Dilated - genetics</subject><subject>Chromosome Mapping</subject><subject>Chromosomes, Human, Pair 6 - genetics</subject><subject>Female</subject><subject>France</subject><subject>Genes, Dominant - genetics</subject><subject>Genetic Markers - genetics</subject><subject>Haplotypes - genetics</subject><subject>Heart</subject><subject>Humans</subject><subject>Laminin - genetics</subject><subject>Lod Score</subject><subject>Malate Dehydrogenase - genetics</subject><subject>Male</subject><subject>Medical sciences</subject><subject>Middle Aged</subject><subject>Molecular Sequence Data</subject><subject>Myocarditis. Cardiomyopathies</subject><subject>Pedigree</subject><subject>Polymorphism, Single-Stranded Conformational</subject><subject>Recombination, Genetic - genetics</subject><subject>Solubility</subject><issn>0002-9297</issn><issn>1537-6605</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2001</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNpdkU1rGzEQhkVpqB03_QlFUOhtE2nl1WovBWPnw2CSS3rKQczqo1bZXdnSbor_fWRs7CangZln3nl5B6FvlFxTIvgNo7zKq09oTAtWZpyT4jMaE0LyLLXLEbqM8S8hlArCvqARTTtFRfMxepnhR_MPr7waIrY-4NnQ--hbaPDCt66DrscL10BvNJ5D0M63O7-Bfr3DS2263lmXJr7D83Xw7X7TYL6lebal_Cu6sNBEc3WsE_T77vZ5_pCtnu6X89kqU2zKq4xWXImSCWF5ORUWWG1JYSnV1jCiOK_rsi5KwaAWGnhBLejcstJaVU1B1YJN0K-D7maoW6NVshWgkZvgWgg76cHJ95POreUf_yppzqZVTpLAz6NA8NvBxF62LirTNNAZP0RZkiIlSvgZVMHHGIw9HaFE7v8gD39I4Pf_LZ2xY_AJ-HEEICpobIBOuXjiUh55tafIgTIpvldngozKmU4Z7YJRvdTefbz8Brd9n20</recordid><startdate>2001</startdate><enddate>2001</enddate><creator>Sylvius, N.</creator><creator>Tesson, F.</creator><creator>Gayet, C.</creator><creator>Charron, P.</creator><creator>Bénaïche, A.</creator><creator>Mangin, L.</creator><creator>Peuchmaurd, M.</creator><creator>Duboscq-Bidot, L.</creator><creator>Feingold, J.</creator><creator>Beckmann, J.S.</creator><creator>Bouchier, C.</creator><creator>Komajda, M.</creator><general>Elsevier Inc</general><general>University of Chicago Press</general><general>The American Society of Human Genetics</general><scope>6I.</scope><scope>AAFTH</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><scope>5PM</scope></search><sort><creationdate>2001</creationdate><title>A New Locus for Autosomal Dominant Dilated Cardiomyopathy Identified on Chromosome 6q12-q16</title><author>Sylvius, N. ; Tesson, F. ; Gayet, C. ; Charron, P. ; Bénaïche, A. ; Mangin, L. ; Peuchmaurd, M. ; Duboscq-Bidot, L. ; Feingold, J. ; Beckmann, J.S. ; Bouchier, C. ; Komajda, M.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c3469-196c87388f6748fa3bf05f11dfe30c66bb7b5783ab8da651fad2f37ffc94acb83</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2001</creationdate><topic>Adolescent</topic><topic>Adult</topic><topic>Aged</topic><topic>Biological and medical sciences</topic><topic>Calcium-Binding Proteins - genetics</topic><topic>Cardiology. Vascular system</topic><topic>Cardiomyopathy, Dilated - genetics</topic><topic>Chromosome Mapping</topic><topic>Chromosomes, Human, Pair 6 - genetics</topic><topic>Female</topic><topic>France</topic><topic>Genes, Dominant - genetics</topic><topic>Genetic Markers - genetics</topic><topic>Haplotypes - genetics</topic><topic>Heart</topic><topic>Humans</topic><topic>Laminin - genetics</topic><topic>Lod Score</topic><topic>Malate Dehydrogenase - genetics</topic><topic>Male</topic><topic>Medical sciences</topic><topic>Middle Aged</topic><topic>Molecular Sequence Data</topic><topic>Myocarditis. 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To date, 12 candidate disease loci have been described for autosomal dominant DCM. We report the identification of a new locus on chromosome 6q12-16 in a French family with 9 individuals affected by the pure form of autosomal dominant DCM. This locus was found by using a genomewide search after exclusion of all reported disease loci and genes for DCM. The maximum pairwise LOD score was 3.52 at recombination fraction 0.0 for markers D6S1644 and D6S1694. Haplotype construction delineated a region of 16.4 cM between markers D6S1627 and D6S1716. This locus does not overlap with two other disease loci that have been described in nonpure forms of DCM and have been mapped on 6q23-24 and 6q23. The phospholamban, malic enzyme 1–soluble, and laminin-α4 genes were excluded as candidate genes, using single-strand conformation polymorphism or linkage analysis.</abstract><cop>Chicago, IL</cop><pub>Elsevier Inc</pub><pmid>11085912</pmid><doi>10.1086/316929</doi><tpages>6</tpages><oa>free_for_read</oa></addata></record> |
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| subjects | Adolescent Adult Aged Biological and medical sciences Calcium-Binding Proteins - genetics Cardiology. Vascular system Cardiomyopathy, Dilated - genetics Chromosome Mapping Chromosomes, Human, Pair 6 - genetics Female France Genes, Dominant - genetics Genetic Markers - genetics Haplotypes - genetics Heart Humans Laminin - genetics Lod Score Malate Dehydrogenase - genetics Male Medical sciences Middle Aged Molecular Sequence Data Myocarditis. Cardiomyopathies Pedigree Polymorphism, Single-Stranded Conformational Recombination, Genetic - genetics Solubility |
| title | A New Locus for Autosomal Dominant Dilated Cardiomyopathy Identified on Chromosome 6q12-q16 |
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