Detection of Parkin (PARK2) and DJ1 (PARK7) mutations in early‐onset Parkinson disease: Parkin mutation frequency depends on ethnic origin of patients
Identifieur interne : 001658 ( Main/Exploration ); précédent : 001657; suivant : 001659Detection of Parkin (PARK2) and DJ1 (PARK7) mutations in early‐onset Parkinson disease: Parkin mutation frequency depends on ethnic origin of patients
Auteurs : Ana Djarmati [Allemagne, Serbie] ; Katja Hedrich [Allemagne] ; Marina Svetel [Serbie] ; Nora Sch Fer [Allemagne] ; Vladislava Juric [Serbie] ; Slobodanka Vukosavic [Serbie] ; Robert Hering [Serbie] ; Olaf Riess [Allemagne] ; Stanka Romac [Serbie] ; Christine Klein [Allemagne] ; Vladimir Kostic [Serbie]Source :
- Human Mutation [ 1059-7794 ] ; 2004-05.
Descripteurs français
- Wicri :
- geographic : Serbie.
English descriptors
Abstract
Mutations in the Parkin (PARK2) and the DJ1 (PARK7) gene cause early‐onset Parkinson disease (EOPD). We tested 75 Serbian EOPD patients for mutations in both genes by conventional mutational screening (SSCP/dHPLC/sequencing) to detect small sequence alterations and by gene dosage studies (quantitative PCR) to reveal deletions or multiplications of one or more exons. A compound heterozygous Parkin mutation (exon deletion and point mutation; [c.836_972del]+[c.1411C>T]; +1 is first nucleotide of GenBank AB009973.1) was identified in a patient who showed a relatively benign course after a disease onset at 41 years. Another case had a heterozygous exon deletion in DJ1 ([c.253_322del]+[?]) and presented with an age at onset of 45 years and a rapid disease course. In conclusion, Parkin mutations are surprisingly rare in our Serbian EOPD sample, suggesting that the mutation rate depends on the ethnic origin of the patients. Although DJ1 mutations appear to be rare, we confirm their role in EOPD and demonstrate the importance of gene dosage studies. © 2004 Wiley‐Liss, Inc.
Url:
DOI: 10.1002/humu.9240
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Mutat.</title><idno type="ISSN">1059-7794</idno><idno type="eISSN">1098-1004</idno><imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="2004-05">2004-05</date><biblScope unit="volume">23</biblScope><biblScope unit="issue">5</biblScope><biblScope unit="page" from="525">525</biblScope><biblScope unit="page" to="525">525</biblScope></imprint><idno type="ISSN">1059-7794</idno></series><idno type="istex">32358C1A5CB6A19B9C5CF5F86AA650F15DD9E70A</idno><idno type="DOI">10.1002/humu.9240</idno><idno type="ArticleID">HUMU9240</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">1059-7794</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>DJ1, PARK7</term><term>Early‐onset Parkinson disease</term><term>Parkin, PARK2</term><term>Serbia</term></keywords><keywords scheme="Wicri" type="geographic" xml:lang="fr"><term>Serbie</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Mutations in the Parkin (PARK2) and the DJ1 (PARK7) gene cause early‐onset Parkinson disease (EOPD). We tested 75 Serbian EOPD patients for mutations in both genes by conventional mutational screening (SSCP/dHPLC/sequencing) to detect small sequence alterations and by gene dosage studies (quantitative PCR) to reveal deletions or multiplications of one or more exons. A compound heterozygous Parkin mutation (exon deletion and point mutation; [c.836_972del]+[c.1411C>T]; +1 is first nucleotide of GenBank AB009973.1) was identified in a patient who showed a relatively benign course after a disease onset at 41 years. Another case had a heterozygous exon deletion in DJ1 ([c.253_322del]+[?]) and presented with an age at onset of 45 years and a rapid disease course. In conclusion, Parkin mutations are surprisingly rare in our Serbian EOPD sample, suggesting that the mutation rate depends on the ethnic origin of the patients. Although DJ1 mutations appear to be rare, we confirm their role in EOPD and demonstrate the importance of gene dosage studies. © 2004 Wiley‐Liss, Inc.</div></front></TEI><affiliations><list><country><li>Allemagne</li><li>Serbie</li></country><region><li>Bade-Wurtemberg</li><li>District de Tübingen</li></region><settlement><li>Tübingen</li></settlement></list><tree><country name="Allemagne"><noRegion><name sortKey="Djarmati, Ana" sort="Djarmati, Ana" uniqKey="Djarmati A" first="Ana" last="Djarmati">Ana Djarmati</name></noRegion><name sortKey="Djarmati, Ana" sort="Djarmati, Ana" uniqKey="Djarmati A" first="Ana" last="Djarmati">Ana Djarmati</name><name sortKey="Hedrich, Katja" sort="Hedrich, Katja" uniqKey="Hedrich K" first="Katja" last="Hedrich">Katja Hedrich</name><name sortKey="Hedrich, Katja" sort="Hedrich, Katja" uniqKey="Hedrich K" first="Katja" last="Hedrich">Katja Hedrich</name><name sortKey="Klein, Christine" sort="Klein, Christine" uniqKey="Klein C" first="Christine" last="Klein">Christine Klein</name><name sortKey="Klein, Christine" sort="Klein, Christine" uniqKey="Klein C" first="Christine" last="Klein">Christine Klein</name><name sortKey="Riess, Olaf" sort="Riess, Olaf" uniqKey="Riess O" first="Olaf" last="Riess">Olaf Riess</name><name sortKey="Sch Fer, Nora" sort="Sch Fer, Nora" uniqKey="Sch Fer N" first="Nora" last="Sch Fer">Nora Sch Fer</name><name sortKey="Sch Fer, Nora" sort="Sch Fer, Nora" uniqKey="Sch Fer N" first="Nora" last="Sch Fer">Nora Sch Fer</name></country><country name="Serbie"><noRegion><name sortKey="Djarmati, Ana" sort="Djarmati, Ana" uniqKey="Djarmati A" first="Ana" last="Djarmati">Ana Djarmati</name></noRegion><name sortKey="Hering, Robert" sort="Hering, Robert" uniqKey="Hering R" first="Robert" last="Hering">Robert Hering</name><name sortKey="Juric, Vladislava" sort="Juric, Vladislava" uniqKey="Juric V" first="Vladislava" last="Juric">Vladislava Juric</name><name sortKey="Kostic, Vladimir" sort="Kostic, Vladimir" uniqKey="Kostic V" first="Vladimir" last="Kostic">Vladimir Kostic</name><name sortKey="Romac, Stanka" sort="Romac, Stanka" uniqKey="Romac S" first="Stanka" last="Romac">Stanka Romac</name><name sortKey="Svetel, Marina" sort="Svetel, Marina" uniqKey="Svetel M" first="Marina" last="Svetel">Marina Svetel</name><name sortKey="Vukosavic, Slobodanka" sort="Vukosavic, Slobodanka" uniqKey="Vukosavic S" first="Slobodanka" last="Vukosavic">Slobodanka Vukosavic</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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