Mutations in the desmosomal protein plakophilin-2 are common in arrhythmogenic right ventricular cardiomyopathy
Arrhythmogenic right ventricular cardiomyopathy (ARVC) is associated with fibrofatty replacement of cardiac myocytes, ventricular tachyarrhythmias and sudden cardiac death. In 32 of 120 unrelated individuals with ARVC, we identified heterozygous mutations in PKP2 , which encodes plakophilin-2, an es...
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| Veröffentlicht in: | Nature genetics 2004-11, Vol.36 (11), p.1162-1164 |
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| creator | Gerull, Brenda Heuser, Arnd Wichter, Thomas Paul, Matthias Basson, Craig T McDermott, Deborah A Lerman, Bruce B Markowitz, Steve M Ellinor, Patrick T MacRae, Calum A Peters, Stefan Grossmann, Katja S Michely, Beate Sasse-Klaassen, Sabine Birchmeier, Walter Dietz, Rainer Breithardt, Günter Schulze-Bahr, Eric Thierfelder, Ludwig |
| description | Arrhythmogenic right ventricular cardiomyopathy (ARVC) is associated with fibrofatty replacement of cardiac myocytes, ventricular tachyarrhythmias and sudden cardiac death. In 32 of 120 unrelated individuals with ARVC, we identified heterozygous mutations in
PKP2
, which encodes plakophilin-2, an essential armadillo-repeat protein of the cardiac desmosome. In two kindreds with ARVC, disease was incompletely penetrant in most carriers of
PKP2
mutations. |
| doi_str_mv | 10.1038/ng1461 |
| format | Article |
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PKP2
, which encodes plakophilin-2, an essential armadillo-repeat protein of the cardiac desmosome. In two kindreds with ARVC, disease was incompletely penetrant in most carriers of
PKP2
mutations.</description><identifier>ISSN: 1061-4036</identifier><identifier>EISSN: 1546-1718</identifier><identifier>DOI: 10.1038/ng1461</identifier><identifier>PMID: 15489853</identifier><identifier>CODEN: NGENEC</identifier><language>eng</language><publisher>New York: Nature Publishing Group US</publisher><subject>Adolescent ; Agriculture ; Animal Genetics and Genomics ; Arrhythmogenic Right Ventricular Dysplasia - genetics ; Biological and medical sciences ; Biomedicine ; brief-communication ; Cancer Research ; Cardiac dysrhythmias ; Cardiology. Vascular system ; Cardiomyopathy ; Complications and side effects ; Desmosomes ; Diagnosis ; Female ; Fundamental and applied biological sciences. Psychology ; Gene Function ; Gene mutations ; Genetic aspects ; Genetics of eukaryotes. Biological and molecular evolution ; Heart ; Heart diseases ; Human Genetics ; Humans ; Male ; Medical sciences ; Molecular Sequence Data ; Mutation ; Physiological aspects ; Plakophilins ; Proteins ; Proteins - genetics ; Risk factors</subject><ispartof>Nature genetics, 2004-11, Vol.36 (11), p.1162-1164</ispartof><rights>Springer Nature America, Inc. 2004</rights><rights>2005 INIST-CNRS</rights><rights>COPYRIGHT 2004 Nature Publishing Group</rights><rights>Copyright Nature Publishing Group Nov 2004</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c630t-da736dae488a458ae68de0237207d38568eafac76789c960b6181119014d70cf3</citedby><cites>FETCH-LOGICAL-c630t-da736dae488a458ae68de0237207d38568eafac76789c960b6181119014d70cf3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://link.springer.com/content/pdf/10.1038/ng1461$$EPDF$$P50$$Gspringer$$H</linktopdf><linktohtml>$$Uhttps://link.springer.com/10.1038/ng1461$$EHTML$$P50$$Gspringer$$H</linktohtml><link.rule.ids>314,776,780,27901,27902,41464,42533,51294</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=16281735$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/15489853$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Gerull, Brenda</creatorcontrib><creatorcontrib>Heuser, Arnd</creatorcontrib><creatorcontrib>Wichter, Thomas</creatorcontrib><creatorcontrib>Paul, Matthias</creatorcontrib><creatorcontrib>Basson, Craig T</creatorcontrib><creatorcontrib>McDermott, Deborah A</creatorcontrib><creatorcontrib>Lerman, Bruce B</creatorcontrib><creatorcontrib>Markowitz, Steve M</creatorcontrib><creatorcontrib>Ellinor, Patrick T</creatorcontrib><creatorcontrib>MacRae, Calum A</creatorcontrib><creatorcontrib>Peters, Stefan</creatorcontrib><creatorcontrib>Grossmann, Katja S</creatorcontrib><creatorcontrib>Michely, Beate</creatorcontrib><creatorcontrib>Sasse-Klaassen, Sabine</creatorcontrib><creatorcontrib>Birchmeier, Walter</creatorcontrib><creatorcontrib>Dietz, Rainer</creatorcontrib><creatorcontrib>Breithardt, Günter</creatorcontrib><creatorcontrib>Schulze-Bahr, Eric</creatorcontrib><creatorcontrib>Thierfelder, Ludwig</creatorcontrib><title>Mutations in the desmosomal protein plakophilin-2 are common in arrhythmogenic right ventricular cardiomyopathy</title><title>Nature genetics</title><addtitle>Nat Genet</addtitle><addtitle>Nat Genet</addtitle><description>Arrhythmogenic right ventricular cardiomyopathy (ARVC) is associated with fibrofatty replacement of cardiac myocytes, ventricular tachyarrhythmias and sudden cardiac death. In 32 of 120 unrelated individuals with ARVC, we identified heterozygous mutations in
PKP2
, which encodes plakophilin-2, an essential armadillo-repeat protein of the cardiac desmosome. In two kindreds with ARVC, disease was incompletely penetrant in most carriers of
PKP2
mutations.</description><subject>Adolescent</subject><subject>Agriculture</subject><subject>Animal Genetics and Genomics</subject><subject>Arrhythmogenic Right Ventricular Dysplasia - genetics</subject><subject>Biological and medical sciences</subject><subject>Biomedicine</subject><subject>brief-communication</subject><subject>Cancer Research</subject><subject>Cardiac dysrhythmias</subject><subject>Cardiology. Vascular system</subject><subject>Cardiomyopathy</subject><subject>Complications and side effects</subject><subject>Desmosomes</subject><subject>Diagnosis</subject><subject>Female</subject><subject>Fundamental and applied biological sciences. Psychology</subject><subject>Gene Function</subject><subject>Gene mutations</subject><subject>Genetic aspects</subject><subject>Genetics of eukaryotes. Biological and molecular evolution</subject><subject>Heart</subject><subject>Heart diseases</subject><subject>Human Genetics</subject><subject>Humans</subject><subject>Male</subject><subject>Medical sciences</subject><subject>Molecular Sequence Data</subject><subject>Mutation</subject><subject>Physiological aspects</subject><subject>Plakophilins</subject><subject>Proteins</subject><subject>Proteins - genetics</subject><subject>Risk factors</subject><issn>1061-4036</issn><issn>1546-1718</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2004</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>8G5</sourceid><sourceid>BENPR</sourceid><sourceid>GUQSH</sourceid><sourceid>M2O</sourceid><recordid>eNqN0l2L1DAUBuAgiruO-hOkKCpedE2aNkkvl8WPhZUFv27L2fS0zdomNUnF-fdmmMIwi6D0IiV5zglvOIQ8ZfSMUa7e2p6Vgt0jp6wqRc4kU_fTPxUsLykXJ-RRCLeUsrKk6iE5SUjVquKnxH1aIkTjbMiMzeKAWYthcsFNMGazdxHT9jzCDzcPZjQ2LzLwmGk3Tc7uSsD7YRuHyfVojc686YeY_UIbvdHLCD7T4Fvjpq2bIQ7bx-RBB2PAJ-u6Id_ev_t68TG_uv5weXF-lWvBacxbkFy0gKVSUFYKUKgWacFlQWXLVSUUQgdaCqlqXQt6I5hijNUpYSup7viGvNr3TRl-LhhiM5mgcRzBoltCIyRldc3Lf0ImZa14esQNeX4H3rrF2xSiKYpClOn-HXqxRz2M2BjbuehB7zo25yy1YSylSersLyp9LU5GO4udSftHBW-OCpKJ-Dv2sITQXH75_P_2-vuxXcNr70Lw2DWzNxP4bcNos5urZj9XCT5bwy83E7YHtg5SAi9XAEHD2Hmw2oSDE4ViklfJvd67kI5sj_7wineu_AON-d7i</recordid><startdate>20041101</startdate><enddate>20041101</enddate><creator>Gerull, Brenda</creator><creator>Heuser, Arnd</creator><creator>Wichter, Thomas</creator><creator>Paul, Matthias</creator><creator>Basson, Craig T</creator><creator>McDermott, Deborah A</creator><creator>Lerman, Bruce B</creator><creator>Markowitz, Steve M</creator><creator>Ellinor, Patrick T</creator><creator>MacRae, Calum A</creator><creator>Peters, Stefan</creator><creator>Grossmann, Katja S</creator><creator>Michely, Beate</creator><creator>Sasse-Klaassen, Sabine</creator><creator>Birchmeier, Walter</creator><creator>Dietz, Rainer</creator><creator>Breithardt, Günter</creator><creator>Schulze-Bahr, Eric</creator><creator>Thierfelder, Ludwig</creator><general>Nature Publishing Group US</general><general>Nature Publishing Group</general><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>IOV</scope><scope>ISR</scope><scope>3V.</scope><scope>7QL</scope><scope>7QP</scope><scope>7QR</scope><scope>7SS</scope><scope>7T7</scope><scope>7TK</scope><scope>7TM</scope><scope>7U9</scope><scope>7X7</scope><scope>7XB</scope><scope>88A</scope><scope>88E</scope><scope>8AO</scope><scope>8C1</scope><scope>8FD</scope><scope>8FE</scope><scope>8FH</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>8G5</scope><scope>ABUWG</scope><scope>AEUYN</scope><scope>AFKRA</scope><scope>AZQEC</scope><scope>BBNVY</scope><scope>BENPR</scope><scope>BHPHI</scope><scope>C1K</scope><scope>CCPQU</scope><scope>DWQXO</scope><scope>FR3</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>GNUQQ</scope><scope>GUQSH</scope><scope>H94</scope><scope>HCIFZ</scope><scope>K9.</scope><scope>LK8</scope><scope>M0S</scope><scope>M1P</scope><scope>M2O</scope><scope>M7N</scope><scope>M7P</scope><scope>MBDVC</scope><scope>P64</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>Q9U</scope><scope>RC3</scope><scope>7X8</scope></search><sort><creationdate>20041101</creationdate><title>Mutations in the desmosomal protein plakophilin-2 are common in arrhythmogenic right ventricular cardiomyopathy</title><author>Gerull, Brenda ; Heuser, Arnd ; Wichter, Thomas ; Paul, Matthias ; Basson, Craig T ; McDermott, Deborah A ; Lerman, Bruce B ; Markowitz, Steve M ; Ellinor, Patrick T ; MacRae, Calum A ; Peters, Stefan ; Grossmann, Katja S ; Michely, Beate ; Sasse-Klaassen, Sabine ; Birchmeier, Walter ; Dietz, Rainer ; Breithardt, Günter ; Schulze-Bahr, Eric ; Thierfelder, Ludwig</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c630t-da736dae488a458ae68de0237207d38568eafac76789c960b6181119014d70cf3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2004</creationdate><topic>Adolescent</topic><topic>Agriculture</topic><topic>Animal Genetics and Genomics</topic><topic>Arrhythmogenic Right Ventricular Dysplasia - genetics</topic><topic>Biological and medical sciences</topic><topic>Biomedicine</topic><topic>brief-communication</topic><topic>Cancer Research</topic><topic>Cardiac dysrhythmias</topic><topic>Cardiology. 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Academic</collection><jtitle>Nature genetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Gerull, Brenda</au><au>Heuser, Arnd</au><au>Wichter, Thomas</au><au>Paul, Matthias</au><au>Basson, Craig T</au><au>McDermott, Deborah A</au><au>Lerman, Bruce B</au><au>Markowitz, Steve M</au><au>Ellinor, Patrick T</au><au>MacRae, Calum A</au><au>Peters, Stefan</au><au>Grossmann, Katja S</au><au>Michely, Beate</au><au>Sasse-Klaassen, Sabine</au><au>Birchmeier, Walter</au><au>Dietz, Rainer</au><au>Breithardt, Günter</au><au>Schulze-Bahr, Eric</au><au>Thierfelder, Ludwig</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Mutations in the desmosomal protein plakophilin-2 are common in arrhythmogenic right ventricular cardiomyopathy</atitle><jtitle>Nature genetics</jtitle><stitle>Nat Genet</stitle><addtitle>Nat Genet</addtitle><date>2004-11-01</date><risdate>2004</risdate><volume>36</volume><issue>11</issue><spage>1162</spage><epage>1164</epage><pages>1162-1164</pages><issn>1061-4036</issn><eissn>1546-1718</eissn><coden>NGENEC</coden><abstract>Arrhythmogenic right ventricular cardiomyopathy (ARVC) is associated with fibrofatty replacement of cardiac myocytes, ventricular tachyarrhythmias and sudden cardiac death. In 32 of 120 unrelated individuals with ARVC, we identified heterozygous mutations in
PKP2
, which encodes plakophilin-2, an essential armadillo-repeat protein of the cardiac desmosome. In two kindreds with ARVC, disease was incompletely penetrant in most carriers of
PKP2
mutations.</abstract><cop>New York</cop><pub>Nature Publishing Group US</pub><pmid>15489853</pmid><doi>10.1038/ng1461</doi><tpages>3</tpages><oa>free_for_read</oa></addata></record> |
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| subjects | Adolescent Agriculture Animal Genetics and Genomics Arrhythmogenic Right Ventricular Dysplasia - genetics Biological and medical sciences Biomedicine brief-communication Cancer Research Cardiac dysrhythmias Cardiology. Vascular system Cardiomyopathy Complications and side effects Desmosomes Diagnosis Female Fundamental and applied biological sciences. Psychology Gene Function Gene mutations Genetic aspects Genetics of eukaryotes. Biological and molecular evolution Heart Heart diseases Human Genetics Humans Male Medical sciences Molecular Sequence Data Mutation Physiological aspects Plakophilins Proteins Proteins - genetics Risk factors |
| title | Mutations in the desmosomal protein plakophilin-2 are common in arrhythmogenic right ventricular cardiomyopathy |
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