Rapid and reliable detection of exon rearrangements in various movement disorders genes by multiplex ligation-dependent probe amplification
Identifieur interne : 002898 ( Main/Merge ); précédent : 002897; suivant : 002899Rapid and reliable detection of exon rearrangements in various movement disorders genes by multiplex ligation-dependent probe amplification
Auteurs : Ana Djarmati [Allemagne] ; Miodrag Guzvic [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.
Descripteurs français
- Pascal (Inist)
English descriptors
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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.
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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">Rapid and reliable detection of exon rearrangements in various movement disorders genes by multiplex ligation-dependent probe amplification</title>
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<author><name sortKey="Guzvic, Miodrag" sort="Guzvic, Miodrag" uniqKey="Guzvic M" first="Miodrag" last="Guzvic">Miodrag Guzvic</name>
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<wicri:noRegion>Lemgo</wicri:noRegion>
<wicri:noRegion>Hospital Lippe-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"><inist:fA14 i1="10"><s1>MRC-Holland</s1>
<s2>Amsterdam</s2>
<s3>NLD</s3>
<sZ>9 aut.</sZ>
</inist:fA14>
<country>Pays-Bas</country>
<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"><inist:fA14 i1="11"><s1>Institut of Clinical Chemistry and Laboratory Diagnostics, University Hospital of the Friedrich Schiller University</s1>
<s2>Jena</s2>
<s3>DEU</s3>
<sZ>10 aut.</sZ>
</inist:fA14>
<country>Allemagne</country>
<wicri:noRegion>Jena</wicri:noRegion>
<wicri:noRegion>University Hospital of the Friedrich Schiller University</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"><inist:fA14 i1="01"><s1>Department of Neurology, University of Lübeck</s1>
<s2>Liibeck</s2>
<s3>DEU</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>8 aut.</sZ>
<sZ>11 aut.</sZ>
<sZ>12 aut.</sZ>
</inist:fA14>
<country>Allemagne</country>
<wicri:noRegion>Liibeck</wicri:noRegion>
<wicri:noRegion>University of Lübeck</wicri:noRegion>
<wicri:noRegion>Liibeck</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Department of Human Genetics, University of Liibeck</s1>
<s2>Lübeck</s2>
<s3>DEU</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>11 aut.</sZ>
</inist:fA14>
<country>Allemagne</country>
<wicri:noRegion>Lübeck</wicri:noRegion>
<wicri:noRegion>University of Liibeck</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"><inist:fA14 i1="01"><s1>Department of Neurology, University of Lübeck</s1>
<s2>Liibeck</s2>
<s3>DEU</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>8 aut.</sZ>
<sZ>11 aut.</sZ>
<sZ>12 aut.</sZ>
</inist:fA14>
<country>Allemagne</country>
<wicri:noRegion>Liibeck</wicri:noRegion>
<wicri:noRegion>University of Lübeck</wicri:noRegion>
<wicri:noRegion>Liibeck</wicri:noRegion>
</affiliation>
</author>
</analytic>
<series><title level="j" type="main">Movement disorders</title>
<title level="j" type="abbreviated">Mov. disord.</title>
<idno type="ISSN">0885-3185</idno>
<imprint><date when="2007">2007</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
<seriesStmt><title level="j" type="main">Movement disorders</title>
<title level="j" type="abbreviated">Mov. disord.</title>
<idno type="ISSN">0885-3185</idno>
</seriesStmt>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Amplification</term>
<term>Dystonia</term>
<term>Exon</term>
<term>Gene rearrangement</term>
<term>Medical screening</term>
<term>Myoclonus</term>
<term>Nervous system diseases</term>
<term>Parkinson disease</term>
<term>Segawa disease</term>
</keywords>
<keywords scheme="Pascal" xml:lang="fr"><term>Système nerveux pathologie</term>
<term>Parkinson maladie</term>
<term>Myoclonie</term>
<term>Dystonie</term>
<term>Dépistage</term>
<term>Exon</term>
<term>Réarrangement génique</term>
<term>Amplification</term>
<term>Segawa maladie</term>
</keywords>
</textClass>
</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.</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>Berlin</li>
<li>District de Dresde</li>
<li>Hollande-Septentrionale</li>
<li>Massachusetts</li>
<li>Saxe (Land)</li>
</region>
<settlement><li>Amsterdam</li>
<li>Berlin</li>
<li>Dresde</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="Guzvic, Miodrag" sort="Guzvic, Miodrag" uniqKey="Guzvic M" first="Miodrag" last="Guzvic">Miodrag Guzvic</name>
<name sortKey="Guzvic, Miodrag" sort="Guzvic, Miodrag" uniqKey="Guzvic M" first="Miodrag" last="Guzvic">Miodrag Guzvic</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="Guzvic, Miodrag" sort="Guzvic, Miodrag" uniqKey="Guzvic M" first="Miodrag" last="Guzvic">Miodrag Guzvic</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>
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