Whole gene deletion and splicing mutations expand the PINK1 genotypic spectrum
Identifieur interne : 001381 ( Main/Corpus ); précédent : 001380; suivant : 001382Whole gene deletion and splicing mutations expand the PINK1 genotypic spectrum
Auteurs : Roberta Marongiu ; Francesco Brancati ; Angelo Antonini ; Tamara Ialongo ; Caterina Ceccarini ; Oronzo Scarciolla ; Anna Capalbo ; Riccardo Benti ; Gianni Pezzoli ; Bruno Dallapiccola ; Stefano Goldwurm ; Enza Maria ValenteSource :
- Human Mutation [ 1059-7794 ] ; 2007-01.
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Abstract
Autosomal recessive parkinsonism is a genetic condition closely resembling Parkinson disease, the only distinguishing features being an earlier age at onset and a slower disease progression. Three causative genes have been identified so far. While exon rearrangements are frequently encountered in the Parkin gene, most PINK1 mutations are represented by single nucleotide changes. We report a sporadic parkinsonian patient carrying a deletion of the entire PINK1 gene and a splice site mutation (g.15445_15467del23) which produces several aberrant mRNAs. This report expands the genotypic spectrum of PINK1 mutations, with relevant implications for molecular analysis of this gene. © 2006 Wiley‐Liss, Inc.
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DOI: 10.1002/humu.9472
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ISTEX:58A993F6353C009A2D8838DC48E37CF1A91577FELe document en format XML
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Three causative genes have been identified so far. While exon rearrangements are frequently encountered in the Parkin gene, most PINK1 mutations are represented by single nucleotide changes. We report a sporadic parkinsonian patient carrying a deletion of the entire PINK1 gene and a splice site mutation (g.15445_15467del23) which produces several aberrant mRNAs. This report expands the genotypic spectrum of PINK1 mutations, with relevant implications for molecular analysis of this gene. © 2006 Wiley‐Liss, Inc.</div></front></TEI><istex><corpusName>wiley</corpusName><author><json:item><name>Roberta Marongiu</name><affiliations><json:string>IRCCS CSS‐Mendel Institute, Rome, Italy</json:string><json:string>Department of Experimental Medicine and Pathology, La Sapienza University, Rome, Italy</json:string></affiliations></json:item><json:item><name>Francesco Brancati</name><affiliations><json:string>IRCCS CSS‐Mendel Institute, Rome, Italy</json:string><json:string>Department of Biological Sciences, G. D'Annunzio University, Chieti, Italy</json:string><json:string>Aging Research Center, Ce.S.I., G. 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Three causative genes have been identified so far. While exon rearrangements are frequently encountered in the Parkin gene, most PINK1 mutations are represented by single nucleotide changes. We report a sporadic parkinsonian patient carrying a deletion of the entire PINK1 gene and a splice site mutation (g.15445_15467del23) which produces several aberrant mRNAs. 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Paalman</note><note type="content">*Online Citation: Human Mutation, Mutation in Brief #943 (2007) Online http://www3.interscience.wiley.com/homepages/38515/pdf/943.pdf</note><note>Italian Telethon Foundation, Italian Ministry of Health - No. Telethon grant n. GGP04291 to E.M.V; No. and grant n. GTF04007 to S.G.; Ricerca Corrente 2006; No. Ricerca Finalizzata 2004 to B.D;</note></notesStmt><sourceDesc><biblStruct type="inbook"><analytic><title level="a" type="main" xml:lang="en">Whole gene deletion and splicing mutations expand the PINK1 genotypic spectrum</title><author><persName><forename type="first">Roberta</forename><surname>Marongiu</surname></persName><affiliation>IRCCS CSS‐Mendel Institute, Rome, Italy</affiliation><affiliation>Department of Experimental Medicine and Pathology, La Sapienza University, Rome, Italy</affiliation></author><author><persName><forename type="first">Francesco</forename><surname>Brancati</surname></persName><affiliation>IRCCS CSS‐Mendel Institute, Rome, Italy</affiliation><affiliation>Department of Biological Sciences, G. D'Annunzio University, Chieti, Italy</affiliation><affiliation>Aging Research Center, Ce.S.I., G. D'Annunzio University Foundation, Chieti, Italy</affiliation></author><author><persName><forename type="first">Angelo</forename><surname>Antonini</surname></persName><affiliation>Istituti Clinici di Perfezionamento, Parkinson Institute, Milan, Italy</affiliation></author><author><persName><forename type="first">Tamara</forename><surname>Ialongo</surname></persName><affiliation>Institute of Neurology, Catholic University, Rome, Italy</affiliation></author><author><persName><forename type="first">Caterina</forename><surname>Ceccarini</surname></persName><affiliation>IRCCS CSS‐Mendel Institute, Rome, Italy</affiliation></author><author><persName><forename type="first">Oronzo</forename><surname>Scarciolla</surname></persName><affiliation>Department of Biological Sciences, G. D'Annunzio University, Chieti, Italy</affiliation><affiliation>Aging Research Center, Ce.S.I., G. 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Three causative genes have been identified so far. While exon rearrangements are frequently encountered in the Parkin gene, most PINK1 mutations are represented by single nucleotide changes. We report a sporadic parkinsonian patient carrying a deletion of the entire PINK1 gene and a splice site mutation (g.15445_15467del23) which produces several aberrant mRNAs. This report expands the genotypic spectrum of PINK1 mutations, with relevant implications for molecular analysis of this gene. © 2006 Wiley‐Liss, Inc.</p></abstract><textClass xml:lang="en"><keywords scheme="keyword"><list><head>Keywords</head><item><term>Parkinson disease</term></item><item><term>PINK1</term></item><item><term>autosomal recessive parkinsonism</term></item><item><term>gene deletion</term></item><item><term>splicing mutation</term></item><item><term>genomic rearrangement</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="2006-07-22">Received</change><change when="2006-09-05">Registration</change><change when="2007-01">Published</change><change xml:id="refBibs-istex" who="#ISTEX-API" when="2016-3-2">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/58A993F6353C009A2D8838DC48E37CF1A91577FE/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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D'Annunzio University, Chieti, Italy</unparsedAffiliation></affiliation><affiliation xml:id="af4" countryCode="IT" type="organization"><unparsedAffiliation>Aging Research Center, Ce.S.I., G. D'Annunzio University Foundation, Chieti, Italy</unparsedAffiliation></affiliation><affiliation xml:id="af5" countryCode="IT" type="organization"><unparsedAffiliation>Istituti Clinici di Perfezionamento, Parkinson Institute, Milan, Italy</unparsedAffiliation></affiliation><affiliation xml:id="af6" countryCode="IT" type="organization"><unparsedAffiliation>Institute of Neurology, Catholic University, Rome, Italy</unparsedAffiliation></affiliation><affiliation xml:id="af7" countryCode="IT" type="organization"><unparsedAffiliation>Institute of Nuclear Medicine, IRCCS‐Ospedale Maggiore, Milan, Italy</unparsedAffiliation></affiliation></affiliationGroup><keywordGroup xml:lang="en" type="author"><keyword xml:id="kwd1">Parkinson disease</keyword><keyword xml:id="kwd2"><i>PINK1</i></keyword><keyword xml:id="kwd3">autosomal recessive parkinsonism</keyword><keyword xml:id="kwd4">gene deletion</keyword><keyword xml:id="kwd5">splicing mutation</keyword><keyword xml:id="kwd6">genomic rearrangement</keyword></keywordGroup><fundingInfo><fundingAgency>Italian Telethon Foundation, Italian Ministry of Health</fundingAgency><fundingNumber>Telethon grant n. GGP04291 to E.M.V</fundingNumber><fundingNumber>and grant n. GTF04007 to S.G.; Ricerca Corrente 2006</fundingNumber><fundingNumber>Ricerca Finalizzata 2004 to B.D</fundingNumber></fundingInfo><abstractGroup><abstract type="main" xml:lang="en"><title type="main">Abstract</title><p>Autosomal recessive parkinsonism is a genetic condition closely resembling Parkinson disease, the only distinguishing features being an earlier age at onset and a slower disease progression. Three causative genes have been identified so far. While exon rearrangements are frequently encountered in the <i>Parkin</i> gene, most <i>PINK1</i> mutations are represented by single nucleotide changes. We report a sporadic parkinsonian patient carrying a deletion of the entire <i>PINK1</i> gene and a splice site mutation (g.15445_15467del23) which produces several aberrant mRNAs. This report expands the genotypic spectrum of <i>PINK1</i> mutations, with relevant implications for molecular analysis of this gene. © 2006 Wiley‐Liss, Inc.</p></abstract></abstractGroup></contentMeta><noteGroup><note xml:id="fn1"><p><i>Communicated by Mark H. Paalman</i></p></note><note xml:id="fn2"><p><i>Online Citation: <b>Human Mutation</b>, Mutation in Brief #943 (2007) Online</i> <url href="http://www3.interscience.wiley.com/homepages/38515/pdf/943.pdf">http://www3.interscience.wiley.com/homepages/38515/pdf/943.pdf</url></p></note></noteGroup></header></component></istex:document></istex:metadataXml><mods version="3.6"><titleInfo lang="en"><title>Whole gene deletion and splicing mutations expand the PINK1 genotypic spectrum</title></titleInfo><titleInfo type="abbreviated" lang="en"><title>MUTATIONS IN BRIEF</title></titleInfo><titleInfo type="alternative" contentType="CDATA" lang="en"><title>Whole gene deletion and splicing mutations expand the</title></titleInfo><name type="personal"><namePart type="given">Roberta</namePart><namePart type="family">Marongiu</namePart><affiliation>IRCCS CSS‐Mendel Institute, Rome, Italy</affiliation><affiliation>Department of Experimental Medicine and Pathology, La Sapienza University, Rome, Italy</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Francesco</namePart><namePart type="family">Brancati</namePart><affiliation>IRCCS CSS‐Mendel Institute, Rome, Italy</affiliation><affiliation>Department of Biological Sciences, G. D'Annunzio University, Chieti, Italy</affiliation><affiliation>Aging Research Center, Ce.S.I., G. D'Annunzio University Foundation, Chieti, Italy</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Angelo</namePart><namePart type="family">Antonini</namePart><affiliation>Istituti Clinici di Perfezionamento, Parkinson Institute, Milan, Italy</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Tamara</namePart><namePart type="family">Ialongo</namePart><affiliation>Institute of Neurology, Catholic University, Rome, Italy</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Caterina</namePart><namePart type="family">Ceccarini</namePart><affiliation>IRCCS CSS‐Mendel Institute, Rome, Italy</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Oronzo</namePart><namePart type="family">Scarciolla</namePart><affiliation>Department of Biological Sciences, G. D'Annunzio University, Chieti, Italy</affiliation><affiliation>Aging Research Center, Ce.S.I., G. D'Annunzio University Foundation, Chieti, Italy</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Anna</namePart><namePart type="family">Capalbo</namePart><affiliation>IRCCS CSS‐Mendel Institute, Rome, Italy</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Riccardo</namePart><namePart type="family">Benti</namePart><affiliation>Institute of Nuclear Medicine, IRCCS‐Ospedale Maggiore, Milan, Italy</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Gianni</namePart><namePart type="family">Pezzoli</namePart><affiliation>Istituti Clinici di Perfezionamento, Parkinson Institute, Milan, Italy</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Bruno</namePart><namePart type="family">Dallapiccola</namePart><affiliation>IRCCS CSS‐Mendel Institute, Rome, Italy</affiliation><affiliation>Department of Experimental Medicine and Pathology, La Sapienza University, Rome, Italy</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Stefano</namePart><namePart type="family">Goldwurm</namePart><affiliation>Istituti Clinici di Perfezionamento, Parkinson Institute, Milan, Italy</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Enza Maria</namePart><namePart type="family">Valente</namePart><affiliation>IRCCS CSS‐Mendel Institute, Rome, Italy</affiliation><description>Correspondence: Neurogenetics, CSS‐Mendel Institute, Viale Regina Margherita 261 I‐00198 Rome, Italy</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">2007-01</dateIssued><dateCaptured encoding="w3cdtf">2006-07-22</dateCaptured><dateValid encoding="w3cdtf">2006-09-05</dateValid><copyrightDate encoding="w3cdtf">2007</copyrightDate></originInfo><language><languageTerm type="code" authority="rfc3066">en</languageTerm><languageTerm type="code" authority="iso639-2b">eng</languageTerm></language><physicalDescription><internetMediaType>text/html</internetMediaType></physicalDescription><abstract lang="en">Autosomal recessive parkinsonism is a genetic condition closely resembling Parkinson disease, the only distinguishing features being an earlier age at onset and a slower disease progression. Three causative genes have been identified so far. While exon rearrangements are frequently encountered in the Parkin gene, most PINK1 mutations are represented by single nucleotide changes. We report a sporadic parkinsonian patient carrying a deletion of the entire PINK1 gene and a splice site mutation (g.15445_15467del23) which produces several aberrant mRNAs. This report expands the genotypic spectrum of PINK1 mutations, with relevant implications for molecular analysis of this gene. © 2006 Wiley‐Liss, Inc.</abstract><note type="content">*Communicated by Mark H. Paalman</note><note type="content">*Online Citation: Human Mutation, Mutation in Brief #943 (2007) Online http://www3.interscience.wiley.com/homepages/38515/pdf/943.pdf</note><note type="funding">Italian Telethon Foundation, Italian Ministry of Health - No. Telethon grant n. GGP04291 to E.M.V; No. and grant n. GTF04007 to S.G.; Ricerca Corrente 2006; No. Ricerca Finalizzata 2004 to B.D; </note><subject lang="en"><genre>Keywords</genre><topic>Parkinson disease</topic><topic>PINK1</topic><topic>autosomal recessive parkinsonism</topic><topic>gene deletion</topic><topic>splicing mutation</topic><topic>genomic rearrangement</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>2007</date><detail type="volume"><caption>vol.</caption><number>28</number></detail><detail type="issue"><caption>no.</caption><number>1</number></detail><extent unit="pages"><start>98</start><end>98</end><total>1</total></extent></part></relatedItem><identifier type="istex">58A993F6353C009A2D8838DC48E37CF1A91577FE</identifier><identifier type="DOI">10.1002/humu.9472</identifier><identifier type="ArticleID">HUMU9472</identifier><accessCondition type="use and reproduction" contentType="copyright">© 2006 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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