Molecular Genetic Analysis of PRKAG2 in Sporadic Wolff‐Parkinson‐White Syndrome
Identifieur interne : 000359 ( Main/Corpus ); précédent : 000358; suivant : 000360Molecular Genetic Analysis of PRKAG2 in Sporadic Wolff‐Parkinson‐White Syndrome
Auteurs : Carl J. Vaughan ; Yolanda Hom ; Daniel A. Okin ; Deborah A. Mcdermott ; Bruce B. Lerman ; Craig T. BassonSource :
- Journal of Cardiovascular Electrophysiology [ 1045-3873 ] ; 2003-03.
English descriptors
Abstract
Introduction: Mutations in the PRKAG2 gene that encodes the gamma2 regulatory subunit of AMP‐activated protein kinase have been shown to cause autosomal dominant Wolff‐Parkinson‐White (WPW) syndrome associated with hypertrophic cardiomyopathy. Prior studies focused on familial WPW syndrome associated with other heart disease such as hypertrophic cardiomyopathy. However, such disease accounts for only a small fraction of WPW cases, and the contribution of PRKAG2 mutations to sporadic isolated WPW syndrome is unknown. Methods and Results: Subjects presented for clinical electrophysiologic evaluation of suspected WPW syndrome. WPW syndrome was diagnosed by ECG findings and/or by clinically indicated electrophysiologic study prior to enrollment. Echocardiography excluded hypertrophic cardiomyopathy. Denaturing high‐performance liquid chromatography and automated sequencing were used to search for PRKAG2 mutations. Twenty‐six patients without a family history of WPW syndrome were studied. No subject had cardiac hypertrophy, and only one patient had associated congenital heart disease. Accessory pathways were detected at diverse locations within the heart. Two polymorphisms in PRKAG2 were detected. [inv6+36insA] occurred in intron 6 in 4 WPW patients and [inv10+10delT] in intron 10 in 1 WPW patient. Both occurred in normal unrelated chromosomes. No PRKAG2 mutations were detected. Conclusion: This study shows that, unlike familial WPW syndrome, constitutional mutation of PRKAG2 is not commonly associated with sporadic WPW syndrome. Although polymorphisms within the PRKAG2 introns were identified, there is no evidence that these polymorphisms predispose to accessory pathway formation because their frequency is similarly high in both WPW patients and normal individuals. Further studies are warranted to identify the molecular basis of common sporadic WPW syndrome. (J Cardiovasc Electrophysiol, Vol. 14, pp. 263‐268, March 2003)
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DOI: 10.1046/j.1540-8167.2003.02394.x
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<record><TEI wicri:istexFullTextTei="biblStruct"><teiHeader><fileDesc><titleStmt><title xml:lang="en">Molecular Genetic Analysis of PRKAG2 in Sporadic Wolff‐Parkinson‐White Syndrome</title><author><name sortKey="Vaughan, Carl J" sort="Vaughan, Carl J" uniqKey="Vaughan C" first="Carl J." last="Vaughan">Carl J. Vaughan</name></author><author><name sortKey="Hom, Yolanda" sort="Hom, Yolanda" uniqKey="Hom Y" first="Yolanda" last="Hom">Yolanda Hom</name></author><author><name sortKey="Okin, Daniel A" sort="Okin, Daniel A" uniqKey="Okin D" first="Daniel A." last="Okin">Daniel A. Okin</name><affiliation><mods:affiliation>Molecular Cardiology Laboratory</mods:affiliation></affiliation></author><author><name sortKey="Mcdermott, Deborah A" sort="Mcdermott, Deborah A" uniqKey="Mcdermott D" first="Deborah A." last="Mcdermott">Deborah A. Mcdermott</name><affiliation><mods:affiliation>Molecular Cardiology Laboratory</mods:affiliation></affiliation></author><author><name sortKey="Lerman, Bruce B" sort="Lerman, Bruce B" uniqKey="Lerman B" first="Bruce B." last="Lerman">Bruce B. Lerman</name><affiliation><mods:affiliation>Electrophysiology Laboratory, Division of Cardiology, Department of Medicine, Weill Medical College of Cornell University, The New York‐Presbyterian Hospital, New York, New York, USA</mods:affiliation></affiliation></author><author><name sortKey="Basson, Craig T" sort="Basson, Craig T" uniqKey="Basson C" first="Craig T." last="Basson">Craig T. Basson</name><affiliation><mods:affiliation>Molecular Cardiology Laboratory</mods:affiliation></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">ISTEX</idno><idno type="RBID">ISTEX:5B6D25995E416287ECEAFBC5505684D3E60F8D2A</idno><date when="2003" year="2003">2003</date><idno type="doi">10.1046/j.1540-8167.2003.02394.x</idno><idno type="url">https://api.istex.fr/document/5B6D25995E416287ECEAFBC5505684D3E60F8D2A/fulltext/pdf</idno><idno type="wicri:Area/Main/Corpus">000359</idno></publicationStmt><sourceDesc><biblStruct><analytic><title level="a" type="main" xml:lang="en">Molecular Genetic Analysis of PRKAG2 in Sporadic Wolff‐Parkinson‐White Syndrome</title><author><name sortKey="Vaughan, Carl J" sort="Vaughan, Carl J" uniqKey="Vaughan C" first="Carl J." last="Vaughan">Carl J. Vaughan</name></author><author><name sortKey="Hom, Yolanda" sort="Hom, Yolanda" uniqKey="Hom Y" first="Yolanda" last="Hom">Yolanda Hom</name></author><author><name sortKey="Okin, Daniel A" sort="Okin, Daniel A" uniqKey="Okin D" first="Daniel A." last="Okin">Daniel A. Okin</name><affiliation><mods:affiliation>Molecular Cardiology Laboratory</mods:affiliation></affiliation></author><author><name sortKey="Mcdermott, Deborah A" sort="Mcdermott, Deborah A" uniqKey="Mcdermott D" first="Deborah A." last="Mcdermott">Deborah A. Mcdermott</name><affiliation><mods:affiliation>Molecular Cardiology Laboratory</mods:affiliation></affiliation></author><author><name sortKey="Lerman, Bruce B" sort="Lerman, Bruce B" uniqKey="Lerman B" first="Bruce B." last="Lerman">Bruce B. Lerman</name><affiliation><mods:affiliation>Electrophysiology Laboratory, Division of Cardiology, Department of Medicine, Weill Medical College of Cornell University, The New York‐Presbyterian Hospital, New York, New York, USA</mods:affiliation></affiliation></author><author><name sortKey="Basson, Craig T" sort="Basson, Craig T" uniqKey="Basson C" first="Craig T." last="Basson">Craig T. Basson</name><affiliation><mods:affiliation>Molecular Cardiology Laboratory</mods:affiliation></affiliation></author></analytic><monogr></monogr><series><title level="j">Journal of Cardiovascular Electrophysiology</title><idno type="ISSN">1045-3873</idno><idno type="eISSN">1540-8167</idno><imprint><publisher>Blackwell Science Inc</publisher><pubPlace>350 Main Street , Malden , MA 02148 , USA , and 9600 Garsington Road , Oxford OX4 2DQ , UK .</pubPlace><date type="published" when="2003-03">2003-03</date><biblScope unit="volume">14</biblScope><biblScope unit="issue">3</biblScope><biblScope unit="page" from="263">263</biblScope><biblScope unit="page" to="268">268</biblScope></imprint><idno type="ISSN">1045-3873</idno></series><idno type="istex">5B6D25995E416287ECEAFBC5505684D3E60F8D2A</idno><idno type="DOI">10.1046/j.1540-8167.2003.02394.x</idno><idno type="ArticleID">JCE02394</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">1045-3873</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Wolff‐Parkinson‐White syndrome</term><term>accessory pathway</term><term>genetics</term><term>preexcitation</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Introduction: Mutations in the PRKAG2 gene that encodes the gamma2 regulatory subunit of AMP‐activated protein kinase have been shown to cause autosomal dominant Wolff‐Parkinson‐White (WPW) syndrome associated with hypertrophic cardiomyopathy. Prior studies focused on familial WPW syndrome associated with other heart disease such as hypertrophic cardiomyopathy. However, such disease accounts for only a small fraction of WPW cases, and the contribution of PRKAG2 mutations to sporadic isolated WPW syndrome is unknown. Methods and Results: Subjects presented for clinical electrophysiologic evaluation of suspected WPW syndrome. WPW syndrome was diagnosed by ECG findings and/or by clinically indicated electrophysiologic study prior to enrollment. Echocardiography excluded hypertrophic cardiomyopathy. Denaturing high‐performance liquid chromatography and automated sequencing were used to search for PRKAG2 mutations. Twenty‐six patients without a family history of WPW syndrome were studied. No subject had cardiac hypertrophy, and only one patient had associated congenital heart disease. Accessory pathways were detected at diverse locations within the heart. Two polymorphisms in PRKAG2 were detected. [inv6+36insA] occurred in intron 6 in 4 WPW patients and [inv10+10delT] in intron 10 in 1 WPW patient. Both occurred in normal unrelated chromosomes. No PRKAG2 mutations were detected. Conclusion: This study shows that, unlike familial WPW syndrome, constitutional mutation of PRKAG2 is not commonly associated with sporadic WPW syndrome. Although polymorphisms within the PRKAG2 introns were identified, there is no evidence that these polymorphisms predispose to accessory pathway formation because their frequency is similarly high in both WPW patients and normal individuals. Further studies are warranted to identify the molecular basis of common sporadic WPW syndrome. (J Cardiovasc Electrophysiol, Vol. 14, pp. 263‐268, March 2003)</div></front></TEI><istex><corpusName>wiley</corpusName><author><json:item><name>CARL J. VAUGHAN , M.D.</name></json:item><json:item><name>YOLANDA HOM , B.A.</name></json:item><json:item><name>DANIEL A. OKIN</name><affiliations><json:string>Molecular Cardiology Laboratory</json:string></affiliations></json:item><json:item><name>DEBORAH A. McDERMOTT , M.S.</name><affiliations><json:string>Molecular Cardiology Laboratory</json:string></affiliations></json:item><json:item><name>BRUCE B. LERMAN , M.D.</name><affiliations><json:string>Electrophysiology Laboratory, Division of Cardiology, Department of Medicine, Weill Medical College of Cornell University, The New York‐Presbyterian Hospital, New York, New York, USA</json:string></affiliations></json:item><json:item><name>CRAIG T. BASSON , M.D., Ph.D.</name><affiliations><json:string>Molecular Cardiology Laboratory</json:string></affiliations></json:item></author><subject><json:item><lang><json:string>eng</json:string></lang><value>Wolff‐Parkinson‐White syndrome</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>preexcitation</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>accessory pathway</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>genetics</value></json:item></subject><articleId><json:string>JCE02394</json:string></articleId><language><json:string>eng</json:string></language><abstract>Introduction: Mutations in the PRKAG2 gene that encodes the gamma2 regulatory subunit of AMP‐activated protein kinase have been shown to cause autosomal dominant Wolff‐Parkinson‐White (WPW) syndrome associated with hypertrophic cardiomyopathy. Prior studies focused on familial WPW syndrome associated with other heart disease such as hypertrophic cardiomyopathy. However, such disease accounts for only a small fraction of WPW cases, and the contribution of PRKAG2 mutations to sporadic isolated WPW syndrome is unknown. Methods and Results: Subjects presented for clinical electrophysiologic evaluation of suspected WPW syndrome. WPW syndrome was diagnosed by ECG findings and/or by clinically indicated electrophysiologic study prior to enrollment. Echocardiography excluded hypertrophic cardiomyopathy. Denaturing high‐performance liquid chromatography and automated sequencing were used to search for PRKAG2 mutations. Twenty‐six patients without a family history of WPW syndrome were studied. No subject had cardiac hypertrophy, and only one patient had associated congenital heart disease. Accessory pathways were detected at diverse locations within the heart. Two polymorphisms in PRKAG2 were detected. [inv6+36insA] occurred in intron 6 in 4 WPW patients and [inv10+10delT] in intron 10 in 1 WPW patient. Both occurred in normal unrelated chromosomes. No PRKAG2 mutations were detected. Conclusion: This study shows that, unlike familial WPW syndrome, constitutional mutation of PRKAG2 is not commonly associated with sporadic WPW syndrome. Although polymorphisms within the PRKAG2 introns were identified, there is no evidence that these polymorphisms predispose to accessory pathway formation because their frequency is similarly high in both WPW patients and normal individuals. Further studies are warranted to identify the molecular basis of common sporadic WPW syndrome. 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Prior studies focused on familial WPW syndrome associated with other heart disease such as hypertrophic cardiomyopathy. However, such disease accounts for only a small fraction of WPW cases, and the contribution of PRKAG2 mutations to sporadic isolated WPW syndrome is unknown. Methods and Results: Subjects presented for clinical electrophysiologic evaluation of suspected WPW syndrome. WPW syndrome was diagnosed by ECG findings and/or by clinically indicated electrophysiologic study prior to enrollment. Echocardiography excluded hypertrophic cardiomyopathy. Denaturing high‐performance liquid chromatography and automated sequencing were used to search for PRKAG2 mutations. Twenty‐six patients without a family history of WPW syndrome were studied. No subject had cardiac hypertrophy, and only one patient had associated congenital heart disease. Accessory pathways were detected at diverse locations within the heart. Two polymorphisms in PRKAG2 were detected. [inv6+36insA] occurred in intron 6 in 4 WPW patients and [inv10+10delT] in intron 10 in 1 WPW patient. Both occurred in normal unrelated chromosomes. No PRKAG2 mutations were detected. Conclusion: This study shows that, unlike familial WPW syndrome, constitutional mutation of PRKAG2 is not commonly associated with sporadic WPW syndrome. Although polymorphisms within the PRKAG2 introns were identified, there is no evidence that these polymorphisms predispose to accessory pathway formation because their frequency is similarly high in both WPW patients and normal individuals. Further studies are warranted to identify the molecular basis of common sporadic WPW syndrome. (J Cardiovasc Electrophysiol, Vol. 14, pp. 263‐268, March 2003)</p></abstract><textClass xml:lang="en"><keywords scheme="keyword"><list><head>Keywords</head><item><term>Wolff‐Parkinson‐White syndrome</term></item><item><term>preexcitation</term></item><item><term>accessory pathway</term></item><item><term>genetics</term></item></list></keywords></textClass></profileDesc><revisionDesc><change when="2003-03">Published</change></revisionDesc></teiHeader></istex:fulltextTEI><json:item><original>false</original><mimetype>text/plain</mimetype><extension>txt</extension><uri>https://api.istex.fr/document/5B6D25995E416287ECEAFBC5505684D3E60F8D2A/fulltext/txt</uri></json:item></fulltext><metadata><istex:metadataXml wicri:clean="Wiley, elements deleted: body"><istex:xmlDeclaration>version="1.0" encoding="UTF-8" standalone="yes"</istex:xmlDeclaration><istex:document><component version="2.0" type="serialArticle" xml:lang="en"><header><publicationMeta level="product"><publisherInfo><publisherName>Blackwell Science Inc</publisherName><publisherLoc> 350 Main Street , Malden , MA 02148 , USA , and 9600 Garsington Road , Oxford OX4 2DQ , UK . </publisherLoc></publisherInfo><doi origin="wiley" registered="yes">10.1111/(ISSN)1540-8167</doi><issn type="print">1045-3873</issn><issn type="electronic">1540-8167</issn><idGroup><id type="product" value="JCE"></id><id type="publisherDivision" value="ST"></id></idGroup><titleGroup><title type="main" sort="JOURNAL OF CARDIOVASCULAR ELECTROPHYSIOLOGY">Journal of Cardiovascular Electrophysiology</title></titleGroup></publicationMeta><publicationMeta level="part" position="03003"><doi origin="wiley">10.1111/jce.2003.14.issue-3</doi><numberingGroup><numbering type="journalVolume" number="14">14</numbering><numbering type="journalIssue" number="3">3</numbering></numberingGroup><coverDate startDate="2003-03">March 2003</coverDate></publicationMeta><publicationMeta level="unit" type="article" position="0026300" status="forIssue"><doi origin="wiley">10.1046/j.1540-8167.2003.02394.x</doi><idGroup><id type="unit" value="JCE02394"></id><id type="supplier" value="jce02394"></id></idGroup><countGroup><count type="pageTotal" number="6"></count></countGroup><titleGroup><title type="tocHeading1">ORIGINAL ARTICLES
<i>Clinical</i></title></titleGroup><eventGroup><event type="firstOnline" date="2003-04-11"></event><event type="publishedOnlineFinalForm" date="2003-04-11"></event><event type="xmlConverted" agent="Converter:BPG_TO_WML3G version:2.3.5 mode:FullText source:FullText result:FullText" date="2010-04-07"></event><event type="xmlConverted" agent="Converter:WILEY_ML3G_TO_WILEY_ML3GV2 version:3.8.8" date="2014-01-29"></event><event type="xmlConverted" agent="Converter:WML3G_To_WML3G version:4.1.7 mode:FullText,remove_FC" date="2014-10-24"></event></eventGroup><numberingGroup><numbering type="pageFirst" number="263">263</numbering><numbering type="pageLast" number="268">268</numbering></numberingGroup><correspondenceTo>Address for correspondence: Craig T. Basson, M.D., Ph.D., Molecular Cardiology Laboratory, Cardiology Division, Department of Medicine, Weill Medical College of Cornell University, 525 East 68th Street, New York, NY 10021. Fax: 212‐746‐2222; E‐mail: <email>ctbasson@med.cornell.edu</email></correspondenceTo><linkGroup><link type="toTypesetVersion" href="file:JCE.JCE2394.pdf"></link></linkGroup></publicationMeta><contentMeta><countGroup><count type="figureTotal" number="0"></count><count type="tableTotal" number="0"></count><count type="formulaTotal" number="12"></count><count type="referenceTotal" number="30"></count><count type="linksCrossRef" number="12"></count></countGroup><titleGroup><title type="main">Molecular Genetic Analysis of <i>PRKAG2</i> in Sporadic Wolff‐Parkinson‐White Syndrome</title></titleGroup><creators><creator creatorRole="author" xml:id="cr1" noteRef="#fn1"><personName><givenNames>CARL J.</givenNames><familyName>VAUGHAN</familyName><degrees>, M.D.</degrees></personName></creator><creator creatorRole="author" xml:id="cr2" noteRef="#fn1"><personName><givenNames>YOLANDA</givenNames><familyName>HOM</familyName><degrees>, B.A.</degrees></personName></creator><creator creatorRole="author" xml:id="cr3" affiliationRef="#a1"><personName><givenNames>DANIEL A.</givenNames><familyName>OKIN</familyName></personName></creator><creator creatorRole="author" xml:id="cr4" affiliationRef="#a1"><personName><givenNames>DEBORAH A.</givenNames><familyName>McDERMOTT</familyName><degrees>, M.S.</degrees></personName></creator><creator creatorRole="author" xml:id="cr5" affiliationRef="#a2"><personName><givenNames>BRUCE B.</givenNames><familyName>LERMAN</familyName><degrees>, M.D.</degrees></personName></creator><creator creatorRole="author" xml:id="cr6" affiliationRef="#a1"><personName><givenNames>CRAIG T.</givenNames><familyName>BASSON</familyName><degrees>, M.D., Ph.D.</degrees></personName></creator></creators><affiliationGroup><affiliation xml:id="a1"><unparsedAffiliation>Molecular Cardiology Laboratory</unparsedAffiliation></affiliation><affiliation xml:id="a2" countryCode="US"><unparsedAffiliation>Electrophysiology Laboratory, Division of Cardiology, Department of Medicine, Weill Medical College of Cornell University, The New York‐Presbyterian Hospital, New York, New York, USA</unparsedAffiliation></affiliation></affiliationGroup><keywordGroup xml:lang="en"><keyword xml:id="k1"><i>Wolff‐Parkinson‐White syndrome</i></keyword><keyword xml:id="k2"><i>preexcitation</i></keyword><keyword xml:id="k3"><i>accessory pathway</i></keyword><keyword xml:id="k4"><i>genetics</i></keyword></keywordGroup><abstractGroup><abstract type="main" xml:lang="en"><!-- PRKAG2 Gene in Sporadic WPW Syndrome. --><p> <b><i>Introduction:</i> Mutations in the <i>PRKAG2</i> gene that encodes the gamma2 regulatory subunit of AMP‐activated protein kinase have been shown to cause autosomal dominant Wolff‐Parkinson‐White (WPW) syndrome associated with hypertrophic cardiomyopathy. Prior studies focused on familial WPW syndrome associated with other heart disease such as hypertrophic cardiomyopathy. However, such disease accounts for only a small fraction of WPW cases, and the contribution of <i>PRKAG2</i> mutations to sporadic isolated WPW syndrome is unknown.</b> </p><p> <b><i>Methods and Results:</i> Subjects presented for clinical electrophysiologic evaluation of suspected WPW syndrome. WPW syndrome was diagnosed by ECG findings and/or by clinically indicated electrophysiologic study prior to enrollment. Echocardiography excluded hypertrophic cardiomyopathy. Denaturing high‐performance liquid chromatography and automated sequencing were used to search for <i>PRKAG2</i> mutations. Twenty‐six patients without a family history of WPW syndrome were studied. No subject had cardiac hypertrophy, and only one patient had associated congenital heart disease. Accessory pathways were detected at diverse locations within the heart. Two polymorphisms in <i>PRKAG2</i> were detected. [inv6+36insA] occurred in intron 6 in 4 WPW patients and [inv10+10delT] in intron 10 in 1 WPW patient. Both occurred in normal unrelated chromosomes. No <i>PRKAG2</i> mutations were detected.</b> </p><p> <b><i>Conclusion:</i> This study shows that, unlike familial WPW syndrome, constitutional mutation of <i>PRKAG2</i> is not commonly associated with sporadic WPW syndrome. Although polymorphisms within the <i>PRKAG2</i> introns were identified, there is no evidence that these polymorphisms predispose to accessory pathway formation because their frequency is similarly high in both WPW patients and normal individuals. Further studies are warranted to identify the molecular basis of common sporadic WPW syndrome.</b><i>(J Cardiovasc Electrophysiol, Vol. 14, pp. 263‐268, March 2003)</i> </p></abstract></abstractGroup></contentMeta><noteGroup><note xml:id="n-fnt-1" numbered="no"><p>This work was supported by the Michael Wolk Heart Foundation (C.T.B., C.J.V.), a New York Academy of Medicine Glorney‐Raisbeck fellowship (C.J.V.), the Maurice and Corinne Greenberg Arrhythmia Research Grant (B.B.L.), NIH/NHLBI 1R01HL61785 (C.T.B.), and the Cornell Vascular Medicine Foundation (C.T.B.).</p></note><note xml:id="fn1"><label>*</label><p>The first two authors contributed equally to this work.</p></note><note xml:id="n-fnt-3" numbered="no"><p>Manuscript received 6 September 2002; Accepted for publication 18 December 2002.</p></note></noteGroup></header></component></istex:document></istex:metadataXml><mods version="3.6"><titleInfo lang="en"><title>Molecular Genetic Analysis of PRKAG2 in Sporadic Wolff‐Parkinson‐White Syndrome</title></titleInfo><titleInfo type="alternative" contentType="CDATA" lang="en"><title>Molecular Genetic Analysis of</title></titleInfo><name type="personal"><namePart type="given">CARL J.</namePart><namePart type="family">VAUGHAN</namePart><namePart type="termsOfAddress">, M.D.</namePart><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">YOLANDA</namePart><namePart type="family">HOM</namePart><namePart type="termsOfAddress">, B.A.</namePart><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">DANIEL A.</namePart><namePart type="family">OKIN</namePart><affiliation>Molecular Cardiology Laboratory</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">DEBORAH A.</namePart><namePart type="family">McDERMOTT</namePart><namePart type="termsOfAddress">, M.S.</namePart><affiliation>Molecular Cardiology Laboratory</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">BRUCE B.</namePart><namePart type="family">LERMAN</namePart><namePart type="termsOfAddress">, M.D.</namePart><affiliation>Electrophysiology Laboratory, Division of Cardiology, Department of Medicine, Weill Medical College of Cornell University, The New York‐Presbyterian Hospital, New York, New York, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">CRAIG T.</namePart><namePart type="family">BASSON</namePart><namePart type="termsOfAddress">, M.D., Ph.D.</namePart><affiliation>Molecular Cardiology Laboratory</affiliation><role><roleTerm type="text">author</roleTerm></role></name><typeOfResource>text</typeOfResource><genre type="article" displayLabel="article"></genre><originInfo><publisher>Blackwell Science Inc</publisher><place><placeTerm type="text">350 Main Street , Malden , MA 02148 , USA , and 9600 Garsington Road , Oxford OX4 2DQ , UK .</placeTerm></place><dateIssued encoding="w3cdtf">2003-03</dateIssued><copyrightDate encoding="w3cdtf">2003</copyrightDate></originInfo><language><languageTerm type="code" authority="rfc3066">en</languageTerm><languageTerm type="code" authority="iso639-2b">eng</languageTerm></language><physicalDescription><internetMediaType>text/html</internetMediaType><extent unit="formulas">12</extent><extent unit="references">30</extent></physicalDescription><abstract lang="en">Introduction: Mutations in the PRKAG2 gene that encodes the gamma2 regulatory subunit of AMP‐activated protein kinase have been shown to cause autosomal dominant Wolff‐Parkinson‐White (WPW) syndrome associated with hypertrophic cardiomyopathy. Prior studies focused on familial WPW syndrome associated with other heart disease such as hypertrophic cardiomyopathy. However, such disease accounts for only a small fraction of WPW cases, and the contribution of PRKAG2 mutations to sporadic isolated WPW syndrome is unknown. Methods and Results: Subjects presented for clinical electrophysiologic evaluation of suspected WPW syndrome. WPW syndrome was diagnosed by ECG findings and/or by clinically indicated electrophysiologic study prior to enrollment. Echocardiography excluded hypertrophic cardiomyopathy. Denaturing high‐performance liquid chromatography and automated sequencing were used to search for PRKAG2 mutations. Twenty‐six patients without a family history of WPW syndrome were studied. No subject had cardiac hypertrophy, and only one patient had associated congenital heart disease. Accessory pathways were detected at diverse locations within the heart. Two polymorphisms in PRKAG2 were detected. [inv6+36insA] occurred in intron 6 in 4 WPW patients and [inv10+10delT] in intron 10 in 1 WPW patient. Both occurred in normal unrelated chromosomes. No PRKAG2 mutations were detected. Conclusion: This study shows that, unlike familial WPW syndrome, constitutional mutation of PRKAG2 is not commonly associated with sporadic WPW syndrome. Although polymorphisms within the PRKAG2 introns were identified, there is no evidence that these polymorphisms predispose to accessory pathway formation because their frequency is similarly high in both WPW patients and normal individuals. Further studies are warranted to identify the molecular basis of common sporadic WPW syndrome. (J Cardiovasc Electrophysiol, Vol. 14, pp. 263‐268, March 2003)</abstract><subject lang="en"><genre>Keywords</genre><topic>Wolff‐Parkinson‐White syndrome</topic><topic>preexcitation</topic><topic>accessory pathway</topic><topic>genetics</topic></subject><relatedItem type="host"><titleInfo><title>Journal of Cardiovascular Electrophysiology</title></titleInfo><genre type="Journal">journal</genre><identifier type="ISSN">1045-3873</identifier><identifier type="eISSN">1540-8167</identifier><identifier type="DOI">10.1111/(ISSN)1540-8167</identifier><identifier type="PublisherID">JCE</identifier><part><date>2003</date><detail type="volume"><caption>vol.</caption><number>14</number></detail><detail type="issue"><caption>no.</caption><number>3</number></detail><extent unit="pages"><start>263</start><end>268</end><total>6</total></extent></part></relatedItem><identifier type="istex">5B6D25995E416287ECEAFBC5505684D3E60F8D2A</identifier><identifier type="DOI">10.1046/j.1540-8167.2003.02394.x</identifier><identifier type="ArticleID">JCE02394</identifier><recordInfo><recordContentSource>WILEY</recordContentSource><recordOrigin>Blackwell Science Inc</recordOrigin></recordInfo></mods></metadata><serie></serie></istex></record>Pour manipuler ce document sous Unix (Dilib)
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