A rare novel deletion of the tyrosine hydroxylase gene in Parkinson disease
Identifieur interne : 000B59 ( Main/Corpus ); précédent : 000B58; suivant : 000B60A rare novel deletion of the tyrosine hydroxylase gene in Parkinson disease
Auteurs : Güney Bademci ; Todd L. Edwards ; Andre L. Torres ; William K. Scott ; Stephan Züchner ; Eden R. Martin ; Jeffery M. Vance ; Liyong WangSource :
- Human Mutation [ 1059-7794 ] ; 2010-10.
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- KwdEn :
Abstract
Tyrosine hydroxylase (TH) enzyme is a rate limiting enzyme in dopamine biosynthesis. Missense mutation in both alleles of the TH gene is known to cause dopamine‐related phenotypes, including dystonia and infantile Parkinsonism. However, it is not clear if single allele mutation in TH modifies the susceptibility to the adult form of Parkinson disease (PD). We reported a novel deletion of entire TH gene in an adult with PD. The deletion was first identified by copy number variation (CNV) analysis in a genome‐wide association study using Illumina Infinium BeadChips. After screening 635 cases and 642 controls, the deletion was found in one PD case but not in any control. The deletion was confirmed by multiple quantitative PCR (qPCR) assays. There is no additional exonic single nucleotide variant in the one copy of TH gene of the patient. The patient has an age‐at‐onset of 54 years, no evidence for dystonia, and was responsive to L‐DOPA. This case supports the importance of the TH gene in PD pathogenesis and raises more attention to rare variants in candidate genes being a risk factor for Parkinson disease. © 2010 Wiley‐Liss, Inc.
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DOI: 10.1002/humu.21351
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ISTEX:24B322657EFA0E4FE7DE1AB384B199B044263266Le document en format XML
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Missense mutation in both alleles of the TH gene is known to cause dopamine‐related phenotypes, including dystonia and infantile Parkinsonism. However, it is not clear if single allele mutation in TH modifies the susceptibility to the adult form of Parkinson disease (PD). We reported a novel deletion of entire TH gene in an adult with PD. The deletion was first identified by copy number variation (CNV) analysis in a genome‐wide association study using Illumina Infinium BeadChips. After screening 635 cases and 642 controls, the deletion was found in one PD case but not in any control. The deletion was confirmed by multiple quantitative PCR (qPCR) assays. There is no additional exonic single nucleotide variant in the one copy of TH gene of the patient. The patient has an age‐at‐onset of 54 years, no evidence for dystonia, and was responsive to L‐DOPA. 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However, it is not clear if single allele mutation in TH modifies the susceptibility to the adult form of Parkinson disease (PD). We reported a novel deletion of entire TH gene in an adult with PD. The deletion was first identified by copy number variation (CNV) analysis in a genome‐wide association study using Illumina Infinium BeadChips. After screening 635 cases and 642 controls, the deletion was found in one PD case but not in any control. The deletion was confirmed by multiple quantitative PCR (qPCR) assays. There is no additional exonic single nucleotide variant in the one copy of TH gene of the patient. The patient has an age‐at‐onset of 54 years, no evidence for dystonia, and was responsive to L‐DOPA. 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Hussman Institute for Human Genomics Miami, FL 33136, USA</affiliation></author><author><persName><forename type="first">Todd L.</forename><surname>Edwards</surname></persName><affiliation>Institute of Medicine and Public Health, Division of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, Vanderbilt University School of Medicine, Nashville, TN 37203, USA</affiliation></author><author><persName><forename type="first">Andre L.</forename><surname>Torres</surname></persName><affiliation>University of Miami, Miller School of Medicine, John P. Hussman Institute for Human Genomics Miami, FL 33136, USA</affiliation></author><author><persName><forename type="first">William K.</forename><surname>Scott</surname></persName><affiliation>University of Miami, Miller School of Medicine, John P. Hussman Institute for Human Genomics Miami, FL 33136, USA</affiliation><affiliation>University of Miami, Miller School of Medicine, Dr. John T. Macdonald Foundation Department of Human Genetics Miami, FL 33136, USA</affiliation></author><author><persName><forename type="first">Stephan</forename><surname>Züchner</surname></persName><affiliation>University of Miami, Miller School of Medicine, John P. Hussman Institute for Human Genomics Miami, FL 33136, USA</affiliation><affiliation>University of Miami, Miller School of Medicine, Dr. John T. Macdonald Foundation Department of Human Genetics Miami, FL 33136, USA</affiliation></author><author><persName><forename type="first">Eden R.</forename><surname>Martin</surname></persName><affiliation>University of Miami, Miller School of Medicine, John P. Hussman Institute for Human Genomics Miami, FL 33136, USA</affiliation><affiliation>University of Miami, Miller School of Medicine, Dr. John T. Macdonald Foundation Department of Human Genetics Miami, FL 33136, USA</affiliation></author><author><persName><forename type="first">Jeffery M.</forename><surname>Vance</surname></persName><affiliation>University of Miami, Miller School of Medicine, John P. Hussman Institute for Human Genomics Miami, FL 33136, USA</affiliation><affiliation>University of Miami, Miller School of Medicine, Dr. John T. Macdonald Foundation Department of Human Genetics Miami, FL 33136, USA</affiliation></author><author><persName><forename type="first">Liyong</forename><surname>Wang</surname></persName><note type="correspondence"><p>Correspondence: Hussman Institute for Human Genomics, 1501 NW 10th Avenue. Miami, FL. 33136, USA, Fax: +1‐305‐243‐2704</p></note><affiliation>University of Miami, Miller School of Medicine, John P. Hussman Institute for Human Genomics Miami, FL 33136, USA</affiliation><affiliation>University of Miami, Miller School of Medicine, Dr. John T. 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Missense mutation in both alleles of the TH gene is known to cause dopamine‐related phenotypes, including dystonia and infantile Parkinsonism. However, it is not clear if single allele mutation in TH modifies the susceptibility to the adult form of Parkinson disease (PD). We reported a novel deletion of entire TH gene in an adult with PD. The deletion was first identified by copy number variation (CNV) analysis in a genome‐wide association study using Illumina Infinium BeadChips. After screening 635 cases and 642 controls, the deletion was found in one PD case but not in any control. The deletion was confirmed by multiple quantitative PCR (qPCR) assays. There is no additional exonic single nucleotide variant in the one copy of TH gene of the patient. The patient has an age‐at‐onset of 54 years, no evidence for dystonia, and was responsive to L‐DOPA. This case supports the importance of the TH gene in PD pathogenesis and raises more attention to rare variants in candidate genes being a risk factor for Parkinson disease. © 2010 Wiley‐Liss, Inc.</p></abstract><textClass xml:lang="en"><keywords scheme="keyword"><list><head>Keywords</head><item><term>Parkinson disease</term></item><item><term>TH</term></item><item><term>deletion</term></item><item><term>CNV</term></item><item><term>rare variants</term></item></list></keywords></textClass><textClass><keywords scheme="Journal Subject"><list><head>article category</head><item><term>Mutation in Brief</term></item></list></keywords></textClass></profileDesc><revisionDesc><change when="2010-04-15">Received</change><change when="2010-08-07">Registration</change><change when="2010-10">Published</change><change xml:id="refBibs-istex" who="#ISTEX-API" when="2016-3-3">References added</change></revisionDesc></teiHeader></istex:fulltextTEI><json:item><original>false</original><mimetype>text/plain</mimetype><extension>txt</extension><uri>https://api.istex.fr/document/24B322657EFA0E4FE7DE1AB384B199B044263266/fulltext/txt</uri></json:item></fulltext><metadata><istex:metadataXml wicri:clean="Wiley component found"><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>Wiley Subscription Services, Inc., A Wiley Company</publisherName><publisherLoc>Hoboken</publisherLoc></publisherInfo><doi registered="yes">10.1002/(ISSN)1098-1004</doi><issn type="print">1059-7794</issn><issn type="electronic">1098-1004</issn><idGroup><id type="product" value="HUMU"></id></idGroup><titleGroup><title type="main" xml:lang="en" sort="HUMAN MUTATION">Human Mutation</title><title type="short">Hum. 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Miami, FL. 33136, USA, Fax: +1‐305‐243‐2704</correspondenceTo><linkGroup><link type="toTypesetVersion" href="file:HUMU.HUMU21351.pdf"></link></linkGroup></publicationMeta><contentMeta><countGroup><count type="figureTotal" number="2"></count><count type="tableTotal" number="0"></count><count type="referenceTotal" number="13"></count></countGroup><titleGroup><title type="main" xml:lang="en">A rare novel deletion of the tyrosine hydroxylase gene in Parkinson disease<link href="#fn1"></link></title><title type="short" xml:lang="en">Tyrosine Hydroxlase Deletion in Parkinson Disease</title></titleGroup><creators><creator xml:id="au1" creatorRole="author" affiliationRef="#af1"><personName><givenNames>Güney</givenNames><familyName>Bademci</familyName></personName></creator><creator xml:id="au2" creatorRole="author" affiliationRef="#af2"><personName><givenNames>Todd L.</givenNames><familyName>Edwards</familyName></personName></creator><creator xml:id="au3" creatorRole="author" affiliationRef="#af1"><personName><givenNames>Andre L.</givenNames><familyName>Torres</familyName></personName></creator><creator xml:id="au4" creatorRole="author" affiliationRef="#af1 #af3"><personName><givenNames>William K.</givenNames><familyName>Scott</familyName></personName></creator><creator xml:id="au5" creatorRole="author" affiliationRef="#af1 #af3"><personName><givenNames>Stephan</givenNames><familyName>Züchner</familyName></personName></creator><creator xml:id="au6" creatorRole="author" affiliationRef="#af1 #af3"><personName><givenNames>Eden R.</givenNames><familyName>Martin</familyName></personName></creator><creator xml:id="au7" creatorRole="author" affiliationRef="#af1 #af3"><personName><givenNames>Jeffery M.</givenNames><familyName>Vance</familyName></personName></creator><creator xml:id="au8" creatorRole="author" affiliationRef="#af1 #af3" corresponding="yes"><personName><givenNames>Liyong</givenNames><familyName>Wang</familyName></personName><contactDetails><email>lwang1@med.miami.edu</email></contactDetails></creator></creators><affiliationGroup><affiliation xml:id="af1" countryCode="US" type="organization"><unparsedAffiliation>University of Miami, Miller School of Medicine, John P. Hussman Institute for Human Genomics Miami, FL 33136, USA</unparsedAffiliation></affiliation><affiliation xml:id="af2" countryCode="US" type="organization"><unparsedAffiliation>Institute of Medicine and Public Health, Division of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, Vanderbilt University School of Medicine, Nashville, TN 37203, USA</unparsedAffiliation></affiliation><affiliation xml:id="af3" countryCode="US" type="organization"><unparsedAffiliation>University of Miami, Miller School of Medicine, Dr. John T. Macdonald Foundation Department of Human Genetics Miami, FL 33136, USA</unparsedAffiliation></affiliation></affiliationGroup><keywordGroup xml:lang="en" type="author"><keyword xml:id="kwd1">Parkinson disease</keyword><keyword xml:id="kwd2"><i>TH</i></keyword><keyword xml:id="kwd3">deletion</keyword><keyword xml:id="kwd4">CNV</keyword><keyword xml:id="kwd5">rare variants</keyword></keywordGroup><abstractGroup><abstract type="main" xml:lang="en"><title type="main">Abstract</title><p>Tyrosine hydroxylase (TH) enzyme is a rate limiting enzyme in dopamine biosynthesis. Missense mutation in both alleles of the <i>TH</i> gene is known to cause dopamine‐related phenotypes, including dystonia and infantile Parkinsonism. However, it is not clear if single allele mutation in <i>TH</i> modifies the susceptibility to the adult form of Parkinson disease (PD). We reported a novel deletion of entire <i>TH</i> gene in an adult with PD. The deletion was first identified by copy number variation (CNV) analysis in a genome‐wide association study using Illumina Infinium BeadChips. After screening 635 cases and 642 controls, the deletion was found in one PD case but not in any control. The deletion was confirmed by multiple quantitative PCR (qPCR) assays. There is no additional exonic single nucleotide variant in the one copy of <i>TH</i> gene of the patient. The patient has an age‐at‐onset of 54 years, no evidence for dystonia, and was responsive to L‐DOPA. This case supports the importance of the <i>TH</i> gene in PD pathogenesis and raises more attention to rare variants in <i>candidate genes</i> being a risk factor for Parkinson disease. © 2010 Wiley‐Liss, Inc.</p></abstract></abstractGroup></contentMeta><noteGroup><note xml:id="fn1"><p>Communicated by Christine Van Broeckhoven</p></note></noteGroup></header></component></istex:document></istex:metadataXml><mods version="3.6"><titleInfo lang="en"><title>A rare novel deletion of the tyrosine hydroxylase gene in Parkinson disease</title></titleInfo><titleInfo type="abbreviated" lang="en"><title>Tyrosine Hydroxlase Deletion in Parkinson Disease</title></titleInfo><titleInfo type="alternative" contentType="CDATA" lang="en"><title>A rare novel deletion of the tyrosine hydroxylase gene in Parkinson disease</title></titleInfo><name type="personal"><namePart type="given">Güney</namePart><namePart type="family">Bademci</namePart><affiliation>University of Miami, Miller School of Medicine, John P. Hussman Institute for Human Genomics Miami, FL 33136, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Todd L.</namePart><namePart type="family">Edwards</namePart><affiliation>Institute of Medicine and Public Health, Division of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, Vanderbilt University School of Medicine, Nashville, TN 37203, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Andre L.</namePart><namePart type="family">Torres</namePart><affiliation>University of Miami, Miller School of Medicine, John P. Hussman Institute for Human Genomics Miami, FL 33136, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">William K.</namePart><namePart type="family">Scott</namePart><affiliation>University of Miami, Miller School of Medicine, John P. Hussman Institute for Human Genomics Miami, FL 33136, USA</affiliation><affiliation>University of Miami, Miller School of Medicine, Dr. John T. Macdonald Foundation Department of Human Genetics Miami, FL 33136, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Stephan</namePart><namePart type="family">Züchner</namePart><affiliation>University of Miami, Miller School of Medicine, John P. Hussman Institute for Human Genomics Miami, FL 33136, USA</affiliation><affiliation>University of Miami, Miller School of Medicine, Dr. John T. Macdonald Foundation Department of Human Genetics Miami, FL 33136, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Eden R.</namePart><namePart type="family">Martin</namePart><affiliation>University of Miami, Miller School of Medicine, John P. Hussman Institute for Human Genomics Miami, FL 33136, USA</affiliation><affiliation>University of Miami, Miller School of Medicine, Dr. John T. Macdonald Foundation Department of Human Genetics Miami, FL 33136, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Jeffery M.</namePart><namePart type="family">Vance</namePart><affiliation>University of Miami, Miller School of Medicine, John P. Hussman Institute for Human Genomics Miami, FL 33136, USA</affiliation><affiliation>University of Miami, Miller School of Medicine, Dr. John T. Macdonald Foundation Department of Human Genetics Miami, FL 33136, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Liyong</namePart><namePart type="family">Wang</namePart><affiliation>University of Miami, Miller School of Medicine, John P. Hussman Institute for Human Genomics Miami, FL 33136, USA</affiliation><affiliation>University of Miami, Miller School of Medicine, Dr. John T. Macdonald Foundation Department of Human Genetics Miami, FL 33136, USA</affiliation><description>Correspondence: Hussman Institute for Human Genomics, 1501 NW 10th Avenue. Miami, FL. 33136, USA, Fax: +1‐305‐243‐2704</description><role><roleTerm type="text">author</roleTerm></role></name><typeOfResource>text</typeOfResource><genre type="brief communication" displayLabel="shortCommunication"></genre><originInfo><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><place><placeTerm type="text">Hoboken</placeTerm></place><dateIssued encoding="w3cdtf">2010-10</dateIssued><dateCaptured encoding="w3cdtf">2010-04-15</dateCaptured><dateValid encoding="w3cdtf">2010-08-07</dateValid><copyrightDate encoding="w3cdtf">2010</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="figures">2</extent><extent unit="references">13</extent></physicalDescription><abstract lang="en">Tyrosine hydroxylase (TH) enzyme is a rate limiting enzyme in dopamine biosynthesis. Missense mutation in both alleles of the TH gene is known to cause dopamine‐related phenotypes, including dystonia and infantile Parkinsonism. However, it is not clear if single allele mutation in TH modifies the susceptibility to the adult form of Parkinson disease (PD). We reported a novel deletion of entire TH gene in an adult with PD. The deletion was first identified by copy number variation (CNV) analysis in a genome‐wide association study using Illumina Infinium BeadChips. After screening 635 cases and 642 controls, the deletion was found in one PD case but not in any control. The deletion was confirmed by multiple quantitative PCR (qPCR) assays. There is no additional exonic single nucleotide variant in the one copy of TH gene of the patient. The patient has an age‐at‐onset of 54 years, no evidence for dystonia, and was responsive to L‐DOPA. This case supports the importance of the TH gene in PD pathogenesis and raises more attention to rare variants in candidate genes being a risk factor for Parkinson disease. © 2010 Wiley‐Liss, Inc.</abstract><note type="content">*Communicated by Christine Van Broeckhoven</note><subject lang="en"><genre>Keywords</genre><topic>Parkinson disease</topic><topic>TH</topic><topic>deletion</topic><topic>CNV</topic><topic>rare variants</topic></subject><relatedItem type="host"><titleInfo><title>Human Mutation</title></titleInfo><titleInfo type="abbreviated"><title>Hum. Mutat.</title></titleInfo><genre type="Journal">journal</genre><subject><genre>article category</genre><topic>Mutation in Brief</topic></subject><identifier type="ISSN">1059-7794</identifier><identifier type="eISSN">1098-1004</identifier><identifier type="DOI">10.1002/(ISSN)1098-1004</identifier><identifier type="PublisherID">HUMU</identifier><part><date>2010</date><detail type="volume"><caption>vol.</caption><number>31</number></detail><detail type="issue"><caption>no.</caption><number>10</number></detail><extent unit="pages"><start>E1767</start><end>E1771</end><total>5</total></extent></part></relatedItem><identifier type="istex">24B322657EFA0E4FE7DE1AB384B199B044263266</identifier><identifier type="DOI">10.1002/humu.21351</identifier><identifier type="ArticleID">HUMU21351</identifier><accessCondition type="use and reproduction" contentType="copyright">© 2010 Wiley‐Liss, Inc.</accessCondition><recordInfo><recordContentSource>WILEY</recordContentSource><recordOrigin>Wiley Subscription Services, Inc., A Wiley Company</recordOrigin></recordInfo></mods></metadata><serie></serie></istex></record>Pour manipuler ce document sous Unix (Dilib)
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