Rapid and reliable detection of exon rearrangements in various movement disorders genes by multiplex ligation‐dependent probe amplification
Identifieur interne : 000F71 ( Main/Exploration ); précédent : 000F70; suivant : 000F72Rapid and reliable detection of exon rearrangements in various movement disorders genes by multiplex ligation‐dependent probe amplification
Auteurs : Ana Djarmati [Allemagne] ; Miodrag Gužvi [Allemagne, Serbie] ; Anne Grünewald [Allemagne] ; Anthony E. Lang [Canada] ; Peter P. Pramstaller [Italie] ; David K. Simon [États-Unis] ; Angela M. Kaindl [Allemagne] ; Peter Vieregge [Allemagne] ; Anders O. H. Nygren [Pays-Bas] ; Christian Beetz [Allemagne] ; Katja Hedrich [Allemagne] ; Christine Klein [Allemagne]Source :
- Movement Disorders [ 0885-3185 ] ; 2007-09-15.
English descriptors
- KwdEn :
Abstract
Because of the occurrence of different types of mutations, comprehensive genetic testing for Parkinson's disease (PD), dopa‐responsive dystonia (DRD), and myoclonus‐dystonia (M‐D) should include screening for small sequence changes and for large exonic rearrangements in disease‐associated genes. In diagnostic and research settings, the latter is frequently omitted or performed by laborious and expensive quantitative real‐time PCR (qPCR). Our study aimed to evaluate the utility of a novel method, multiplex ligation‐dependent probe amplification (MLPA), in molecular diagnostics of movement disorders. We have analyzed, by MLPA, genomic DNA from 21 patients affected with PD, DRD, or M‐D, in which the presence of exon rearrangement(s) (n = 20) or of a specific point mutation (detectable by MLPA, n = 1) had been established previously by qPCR or sequencing. In parallel, we have studied, in a blinded fashion, DNA from 49 patients with an unknown mutational status. Exon rearrangements were evident in 20 samples with previously established mutations; in the 21st sample the known specific point mutation was detected. We conclude that MLPA represents a reliable method for large‐scale and cost‐effective gene dosage screening of various movement disorders genes. This finding reaches far beyond a simple technical advancement and has two major implications: (1) By improving the availability of comprehensive genetic testing, it supports clinicians in the establishment of a genetically defined diagnosis; (2) By enabling gene dosage testing of several genes simultaneously, it significantly facilitates the mutational analysis of large patient and control populations and thereby constitutes the prerequisite for meaningful phenotype–genotype correlations. © 2007 Movement Disorder Society
Url:
DOI: 10.1002/mds.21370
Affiliations:
- Allemagne, Canada, Italie, Pays-Bas, Serbie, États-Unis
- Bavière, Berlin, District de Dresde, District de Haute-Bavière, Hollande-Septentrionale, Massachusetts, Saxe (Land)
- Amsterdam, Berlin, Dresde, Munich
Links toward previous steps (curation, corpus...)
Le document en format XML
<record><TEI wicri:istexFullTextTei="biblStruct"><teiHeader><fileDesc><titleStmt><title xml:lang="en">Rapid and reliable detection of exon rearrangements in various movement disorders genes by multiplex ligation‐dependent probe amplification</title><author><name sortKey="Djarmati, Ana" sort="Djarmati, Ana" uniqKey="Djarmati A" first="Ana" last="Djarmati">Ana Djarmati</name></author><author><name sortKey="Guzvi, Miodrag" sort="Guzvi, Miodrag" uniqKey="Guzvi M" first="Miodrag" last="Gužvi">Miodrag Gužvi</name></author><author><name sortKey="Grunewald, Anne" sort="Grunewald, Anne" uniqKey="Grunewald A" first="Anne" last="Grünewald">Anne Grünewald</name></author><author><name sortKey="Lang, Anthony E" sort="Lang, Anthony E" uniqKey="Lang A" first="Anthony E." last="Lang">Anthony E. Lang</name></author><author><name sortKey="Pramstaller, Peter P" sort="Pramstaller, Peter P" uniqKey="Pramstaller P" first="Peter P." last="Pramstaller">Peter P. Pramstaller</name></author><author><name sortKey="Simon, David K" sort="Simon, David K" uniqKey="Simon D" first="David K." last="Simon">David K. Simon</name></author><author><name sortKey="Kaindl, Angela M" sort="Kaindl, Angela M" uniqKey="Kaindl A" first="Angela M." last="Kaindl">Angela M. Kaindl</name></author><author><name sortKey="Vieregge, Peter" sort="Vieregge, Peter" uniqKey="Vieregge P" first="Peter" last="Vieregge">Peter Vieregge</name></author><author><name sortKey="Nygren, Anders O H" sort="Nygren, Anders O H" uniqKey="Nygren A" first="Anders O. H." last="Nygren">Anders O. H. Nygren</name></author><author><name sortKey="Beetz, Christian" sort="Beetz, Christian" uniqKey="Beetz C" first="Christian" last="Beetz">Christian Beetz</name></author><author><name sortKey="Hedrich, Katja" sort="Hedrich, Katja" uniqKey="Hedrich K" first="Katja" last="Hedrich">Katja Hedrich</name></author><author><name sortKey="Klein, Christine" sort="Klein, Christine" uniqKey="Klein C" first="Christine" last="Klein">Christine Klein</name></author></titleStmt><publicationStmt><idno type="wicri:source">ISTEX</idno><idno type="RBID">ISTEX:171DF0EB23EB4E4906DA047399227B3480C5F7BB</idno><date when="2007" year="2007">2007</date><idno type="doi">10.1002/mds.21370</idno><idno type="url">https://api.istex.fr/document/171DF0EB23EB4E4906DA047399227B3480C5F7BB/fulltext/pdf</idno><idno type="wicri:Area/Main/Corpus">002902</idno><idno type="wicri:Area/Main/Curation">002554</idno><idno type="wicri:Area/Main/Exploration">000F71</idno></publicationStmt><sourceDesc><biblStruct><analytic><title level="a" type="main" xml:lang="en">Rapid and reliable detection of exon rearrangements in various movement disorders genes by multiplex ligation‐dependent probe amplification</title><author><name sortKey="Djarmati, Ana" sort="Djarmati, Ana" uniqKey="Djarmati A" first="Ana" last="Djarmati">Ana Djarmati</name><affiliation wicri:level="1"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Neurology, University of Lübeck, Lübeck</wicri:regionArea><wicri:noRegion>Lübeck</wicri:noRegion><wicri:noRegion>Lübeck</wicri:noRegion></affiliation><affiliation wicri:level="1"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Human Genetics, University of Lübeck, Lübeck</wicri:regionArea><wicri:noRegion>Lübeck</wicri:noRegion><wicri:noRegion>Lübeck</wicri:noRegion></affiliation></author><author><name sortKey="Guzvi, Miodrag" sort="Guzvi, Miodrag" uniqKey="Guzvi M" first="Miodrag" last="Gužvi">Miodrag Gužvi</name><affiliation wicri:level="1"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Neurology, University of Lübeck, Lübeck</wicri:regionArea><wicri:noRegion>Lübeck</wicri:noRegion><wicri:noRegion>Lübeck</wicri:noRegion></affiliation><affiliation wicri:level="1"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Human Genetics, University of Lübeck, Lübeck</wicri:regionArea><wicri:noRegion>Lübeck</wicri:noRegion><wicri:noRegion>Lübeck</wicri:noRegion></affiliation><affiliation wicri:level="1"><country xml:lang="fr">Serbie</country><wicri:regionArea>Laboratory for Radiobiology and Molecular Genetics, Institute of Nuclear Sciences “Vinča”, Belgrade</wicri:regionArea><wicri:noRegion>Belgrade</wicri:noRegion></affiliation><affiliation wicri:level="3"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Current Address: Institute for Immunology, Ludwig‐Maximilian's University, Munich</wicri:regionArea><placeName><region type="land" nuts="1">Bavière</region><region type="district" nuts="2">District de Haute-Bavière</region><settlement type="city">Munich</settlement></placeName></affiliation></author><author><name sortKey="Grunewald, Anne" sort="Grunewald, Anne" uniqKey="Grunewald A" first="Anne" last="Grünewald">Anne Grünewald</name><affiliation wicri:level="1"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Neurology, University of Lübeck, Lübeck</wicri:regionArea><wicri:noRegion>Lübeck</wicri:noRegion><wicri:noRegion>Lübeck</wicri:noRegion></affiliation><affiliation wicri:level="1"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Human Genetics, University of Lübeck, Lübeck</wicri:regionArea><wicri:noRegion>Lübeck</wicri:noRegion><wicri:noRegion>Lübeck</wicri:noRegion></affiliation></author><author><name sortKey="Lang, Anthony E" sort="Lang, Anthony E" uniqKey="Lang A" first="Anthony E." last="Lang">Anthony E. Lang</name><affiliation wicri:level="1"><country xml:lang="fr">Canada</country><wicri:regionArea>Movement Disorders Centre, Toronto Western Hospital, Toronto</wicri:regionArea><wicri:noRegion>Toronto</wicri:noRegion></affiliation></author><author><name sortKey="Pramstaller, Peter P" sort="Pramstaller, Peter P" uniqKey="Pramstaller P" first="Peter P." last="Pramstaller">Peter P. Pramstaller</name><affiliation wicri:level="1"><country xml:lang="fr">Italie</country><wicri:regionArea>Institute of Genetic Medicine, EURAC‐Research, Bolzano‐Bozen</wicri:regionArea><wicri:noRegion>Bolzano‐Bozen</wicri:noRegion></affiliation></author><author><name sortKey="Simon, David K" sort="Simon, David K" uniqKey="Simon D" first="David K." last="Simon">David K. Simon</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, Massachusetts</wicri:regionArea><placeName><region type="state">Massachusetts</region></placeName></affiliation></author><author><name sortKey="Kaindl, Angela M" sort="Kaindl, Angela M" uniqKey="Kaindl A" first="Angela M." last="Kaindl">Angela M. Kaindl</name><affiliation wicri:level="3"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Pediatric Neurology, Charité University Medicine Berlin, Berlin</wicri:regionArea><placeName><region type="land" nuts="3">Berlin</region><settlement type="city">Berlin</settlement></placeName></affiliation><affiliation wicri:level="3"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Pediatric Neurology, University Hospital Dresden, Dresden</wicri:regionArea><placeName><region type="land" nuts="1">Saxe (Land)</region><region type="district" nuts="2">District de Dresde</region><settlement type="city">Dresde</settlement></placeName></affiliation></author><author><name sortKey="Vieregge, Peter" sort="Vieregge, Peter" uniqKey="Vieregge P" first="Peter" last="Vieregge">Peter Vieregge</name><affiliation wicri:level="1"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Neurology, University of Lübeck, Lübeck</wicri:regionArea><wicri:noRegion>Lübeck</wicri:noRegion><wicri:noRegion>Lübeck</wicri:noRegion></affiliation><affiliation wicri:level="1"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Neurology, Hospital Lippe‐Lemgo, Lemgo</wicri:regionArea><wicri:noRegion>Lemgo</wicri:noRegion><wicri:noRegion>Lemgo</wicri:noRegion></affiliation></author><author><name sortKey="Nygren, Anders O H" sort="Nygren, Anders O H" uniqKey="Nygren A" first="Anders O. H." last="Nygren">Anders O. H. Nygren</name><affiliation wicri:level="3"><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>MRC‐Holland, Amsterdam</wicri:regionArea><placeName><settlement type="city">Amsterdam</settlement><region nuts="2" type="province">Hollande-Septentrionale</region></placeName></affiliation></author><author><name sortKey="Beetz, Christian" sort="Beetz, Christian" uniqKey="Beetz C" first="Christian" last="Beetz">Christian Beetz</name><affiliation wicri:level="1"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Institut of Clinical Chemistry and Laboratory Diagnostics, University Hospital of the Friedrich Schiller University, Jena</wicri:regionArea><wicri:noRegion>Jena</wicri:noRegion><wicri:noRegion>Jena</wicri:noRegion></affiliation></author><author><name sortKey="Hedrich, Katja" sort="Hedrich, Katja" uniqKey="Hedrich K" first="Katja" last="Hedrich">Katja Hedrich</name><affiliation wicri:level="1"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Neurology, University of Lübeck, Lübeck</wicri:regionArea><wicri:noRegion>Lübeck</wicri:noRegion><wicri:noRegion>Lübeck</wicri:noRegion></affiliation><affiliation wicri:level="1"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Human Genetics, University of Lübeck, Lübeck</wicri:regionArea><wicri:noRegion>Lübeck</wicri:noRegion><wicri:noRegion>Lübeck</wicri:noRegion></affiliation></author><author><name sortKey="Klein, Christine" sort="Klein, Christine" uniqKey="Klein C" first="Christine" last="Klein">Christine Klein</name><affiliation wicri:level="1"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Neurology, University of Lübeck, Lübeck</wicri:regionArea><wicri:noRegion>Lübeck</wicri:noRegion><wicri:noRegion>Lübeck</wicri:noRegion></affiliation></author></analytic><monogr></monogr><series><title level="j">Movement Disorders</title><title level="j" type="sub">Official Journal of the Movement Disorder Society</title><title level="j" type="abbrev">Mov. Disord.</title><idno type="ISSN">0885-3185</idno><idno type="eISSN">1531-8257</idno><imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="2007-09-15">2007-09-15</date><biblScope unit="volume">22</biblScope><biblScope unit="issue">12</biblScope><biblScope unit="page" from="1708">1708</biblScope><biblScope unit="page" to="1714">1714</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">171DF0EB23EB4E4906DA047399227B3480C5F7BB</idno><idno type="DOI">10.1002/mds.21370</idno><idno type="ArticleID">MDS21370</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Parkinson's disease</term><term>dopa‐responsive dystonia</term><term>exon rearrangements</term><term>multiplex ligation‐dependent probe amplification</term><term>myoclonus‐dystonia</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Because of the occurrence of different types of mutations, comprehensive genetic testing for Parkinson's disease (PD), dopa‐responsive dystonia (DRD), and myoclonus‐dystonia (M‐D) should include screening for small sequence changes and for large exonic rearrangements in disease‐associated genes. In diagnostic and research settings, the latter is frequently omitted or performed by laborious and expensive quantitative real‐time PCR (qPCR). Our study aimed to evaluate the utility of a novel method, multiplex ligation‐dependent probe amplification (MLPA), in molecular diagnostics of movement disorders. We have analyzed, by MLPA, genomic DNA from 21 patients affected with PD, DRD, or M‐D, in which the presence of exon rearrangement(s) (n = 20) or of a specific point mutation (detectable by MLPA, n = 1) had been established previously by qPCR or sequencing. In parallel, we have studied, in a blinded fashion, DNA from 49 patients with an unknown mutational status. Exon rearrangements were evident in 20 samples with previously established mutations; in the 21st sample the known specific point mutation was detected. We conclude that MLPA represents a reliable method for large‐scale and cost‐effective gene dosage screening of various movement disorders genes. This finding reaches far beyond a simple technical advancement and has two major implications: (1) By improving the availability of comprehensive genetic testing, it supports clinicians in the establishment of a genetically defined diagnosis; (2) By enabling gene dosage testing of several genes simultaneously, it significantly facilitates the mutational analysis of large patient and control populations and thereby constitutes the prerequisite for meaningful phenotype–genotype correlations. © 2007 Movement Disorder Society</div></front></TEI><affiliations><list><country><li>Allemagne</li><li>Canada</li><li>Italie</li><li>Pays-Bas</li><li>Serbie</li><li>États-Unis</li></country><region><li>Bavière</li><li>Berlin</li><li>District de Dresde</li><li>District de Haute-Bavière</li><li>Hollande-Septentrionale</li><li>Massachusetts</li><li>Saxe (Land)</li></region><settlement><li>Amsterdam</li><li>Berlin</li><li>Dresde</li><li>Munich</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="Beetz, Christian" sort="Beetz, Christian" uniqKey="Beetz C" first="Christian" last="Beetz">Christian Beetz</name><name sortKey="Djarmati, Ana" sort="Djarmati, Ana" uniqKey="Djarmati A" first="Ana" last="Djarmati">Ana Djarmati</name><name sortKey="Grunewald, Anne" sort="Grunewald, Anne" uniqKey="Grunewald A" first="Anne" last="Grünewald">Anne Grünewald</name><name sortKey="Grunewald, Anne" sort="Grunewald, Anne" uniqKey="Grunewald A" first="Anne" last="Grünewald">Anne Grünewald</name><name sortKey="Guzvi, Miodrag" sort="Guzvi, Miodrag" uniqKey="Guzvi M" first="Miodrag" last="Gužvi">Miodrag Gužvi</name><name sortKey="Guzvi, Miodrag" sort="Guzvi, Miodrag" uniqKey="Guzvi M" first="Miodrag" last="Gužvi">Miodrag Gužvi</name><name sortKey="Guzvi, Miodrag" sort="Guzvi, Miodrag" uniqKey="Guzvi M" first="Miodrag" last="Gužvi">Miodrag Gužvi</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="Kaindl, Angela M" sort="Kaindl, Angela M" uniqKey="Kaindl A" first="Angela M." last="Kaindl">Angela M. Kaindl</name><name sortKey="Kaindl, Angela M" sort="Kaindl, Angela M" uniqKey="Kaindl A" first="Angela M." last="Kaindl">Angela M. Kaindl</name><name sortKey="Klein, Christine" sort="Klein, Christine" uniqKey="Klein C" first="Christine" last="Klein">Christine Klein</name><name sortKey="Vieregge, Peter" sort="Vieregge, Peter" uniqKey="Vieregge P" first="Peter" last="Vieregge">Peter Vieregge</name><name sortKey="Vieregge, Peter" sort="Vieregge, Peter" uniqKey="Vieregge P" first="Peter" last="Vieregge">Peter Vieregge</name></country><country name="Serbie"><noRegion><name sortKey="Guzvi, Miodrag" sort="Guzvi, Miodrag" uniqKey="Guzvi M" first="Miodrag" last="Gužvi">Miodrag Gužvi</name></noRegion></country><country name="Canada"><noRegion><name sortKey="Lang, Anthony E" sort="Lang, Anthony E" uniqKey="Lang A" first="Anthony E." last="Lang">Anthony E. Lang</name></noRegion></country><country name="Italie"><noRegion><name sortKey="Pramstaller, Peter P" sort="Pramstaller, Peter P" uniqKey="Pramstaller P" first="Peter P." last="Pramstaller">Peter P. Pramstaller</name></noRegion></country><country name="États-Unis"><region name="Massachusetts"><name sortKey="Simon, David K" sort="Simon, David K" uniqKey="Simon D" first="David K." last="Simon">David K. Simon</name></region></country><country name="Pays-Bas"><region name="Hollande-Septentrionale"><name sortKey="Nygren, Anders O H" sort="Nygren, Anders O H" uniqKey="Nygren A" first="Anders O. H." last="Nygren">Anders O. H. Nygren</name></region></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Sante/explor/ParkinsonV1/Data/Main/Exploration
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 000F71 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Main/Exploration/biblio.hfd -nk 000F71 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien
|wiki= Wicri/Sante
|area= ParkinsonV1
|flux= Main
|étape= Exploration
|type= RBID
|clé= ISTEX:171DF0EB23EB4E4906DA047399227B3480C5F7BB
|texte= Rapid and reliable detection of exon rearrangements in various movement disorders genes by multiplex ligation‐dependent probe amplification
}}
| This area was generated with Dilib version V0.6.23. |  |