MovDisordV3, PascalFrancis, Corpus, bibRecord, 001546

Rapid and reliable detection of exon rearrangements in various movement disorders genes by multiplex ligation-dependent probe amplification

Identifieur interne : 001546 ( PascalFrancis/Corpus ); précédent : 001545; suivant : 001547

Rapid and reliable detection of exon rearrangements in various movement disorders genes by multiplex ligation-dependent probe amplification

Auteurs : Ana Djarmati ; Miodrag Guzvic ; Anne Grünewald ; Anthony E. Lang ; Peter P. Pramstaller ; David K. Simon ; Angela M. Kaindl ; Peter Vieregge ; Anders O. H. Nygren ; Christian Beetz ; Katja Hedrich ; Christine Klein

Source :

Movement disorders [ 0885-3185 ] ; 2007.

RBID : Pascal:07-0491116

Descripteurs français

Pascal (Inist)
- Système nerveux pathologie, Parkinson maladie, Myoclonie, Dystonie, Dépistage, Exon, Réarrangement génique, Amplification, Segawa maladie.

English descriptors

KwdEn :
- Amplification, Dystonia, Exon, Gene rearrangement, Medical screening, Myoclonus, Nervous system diseases, Parkinson disease, Segawa disease.

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.

Notice en format standard (ISO 2709)

Pour connaître la documentation sur le format Inist Standard.

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A14	`02`			`@1 Department of Human Genetics, University of Liibeck @2 Lübeck @3 DEU @Z 1 aut. @Z 2 aut. @Z 3 aut. @Z 11 aut.`
A14	`03`			`@1 Laboratory for Radiobiology and Molecular Genetics, Institute of Nuclear Sciences "Vinca" @2 Belgrade @3 SCG @Z 2 aut.`
A14	`04`			`@1 Movement Disorders Centre, Toronto Western Hospital @2 Toronto @3 CAN @Z 4 aut.`
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A14	`07`			`@1 Department of Pediatric Neurology, Charite University Medicine Berlin @2 Berlin @3 DEU @Z 7 aut.`
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A20				`@1 1708-1714`
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A44				`@0 0000 @1 © 2007 INIST-CNRS. All rights reserved.`
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C01	`01`		`ENG`	@0 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.
C02	`01`	`X`		`@0 002B17`
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C03	`01`	`X`	`ENG`	`@0 Nervous system diseases @5 01`
C03	`01`	`X`	`SPA`	`@0 Sistema nervioso patología @5 01`
C03	`02`	`X`	`FRE`	`@0 Parkinson maladie @5 02`
C03	`02`	`X`	`ENG`	`@0 Parkinson disease @5 02`
C03	`02`	`X`	`SPA`	`@0 Parkinson enfermedad @5 02`
C03	`03`	`X`	`FRE`	`@0 Myoclonie @5 03`
C03	`03`	`X`	`ENG`	`@0 Myoclonus @5 03`
C03	`03`	`X`	`SPA`	`@0 Mioclonia @5 03`
C03	`04`	`X`	`FRE`	`@0 Dystonie @5 04`
C03	`04`	`X`	`ENG`	`@0 Dystonia @5 04`
C03	`04`	`X`	`SPA`	`@0 Distonía @5 04`
C03	`05`	`X`	`FRE`	`@0 Dépistage @5 09`
C03	`05`	`X`	`ENG`	`@0 Medical screening @5 09`
C03	`05`	`X`	`SPA`	`@0 Descubrimiento @5 09`
C03	`06`	`X`	`FRE`	`@0 Exon @5 10`
C03	`06`	`X`	`ENG`	`@0 Exon @5 10`
C03	`06`	`X`	`SPA`	`@0 Exón @5 10`
C03	`07`	`X`	`FRE`	`@0 Réarrangement génique @5 11`
C03	`07`	`X`	`ENG`	`@0 Gene rearrangement @5 11`
C03	`07`	`X`	`SPA`	`@0 Redisposición génica @5 11`
C03	`08`	`X`	`FRE`	`@0 Amplification @5 12`
C03	`08`	`X`	`ENG`	`@0 Amplification @5 12`
C03	`08`	`X`	`SPA`	`@0 Amplificación @5 12`
C03	`09`	`X`	`FRE`	`@0 Segawa maladie @4 CD @5 96`
C03	`09`	`X`	`ENG`	`@0 Segawa disease @4 CD @5 96`
C03	`09`	`X`	`SPA`	`@0 Segawa enfermedad @4 CD @5 96`
C07	`01`	`X`	`FRE`	`@0 Encéphale pathologie @5 37`
C07	`01`	`X`	`ENG`	`@0 Cerebral disorder @5 37`
C07	`01`	`X`	`SPA`	`@0 Encéfalo patología @5 37`
C07	`02`	`X`	`FRE`	`@0 Extrapyramidal syndrome @5 38`
C07	`02`	`X`	`ENG`	`@0 Extrapyramidal syndrome @5 38`
C07	`02`	`X`	`SPA`	`@0 Extrapiramidal síndrome @5 38`
C07	`03`	`X`	`FRE`	`@0 Maladie dégénérative @5 39`
C07	`03`	`X`	`ENG`	`@0 Degenerative disease @5 39`
C07	`03`	`X`	`SPA`	`@0 Enfermedad degenerativa @5 39`
C07	`04`	`X`	`FRE`	`@0 Système nerveux central pathologie @5 40`
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C07	`05`	`X`	`FRE`	`@0 Maladie héréditaire @5 41`
C07	`05`	`X`	`ENG`	`@0 Genetic disease @5 41`
C07	`05`	`X`	`SPA`	`@0 Enfermedad hereditaria @5 41`
C07	`06`	`X`	`FRE`	`@0 Mouvement involontaire @5 42`
C07	`06`	`X`	`ENG`	`@0 Involuntary movement @5 42`
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C07	`07`	`X`	`SPA`	`@0 Trastorno neurológico @5 43`
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N21				`@1 323`
N44	`01`			`@1 OTO`
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Format Inist (serveur)

NO :	PASCAL 07-0491116 INIST
ET :	Rapid and reliable detection of exon rearrangements in various movement disorders genes by multiplex ligation-dependent probe amplification
AU :	DJARMATI (Ana); GUZVIC (Miodrag); GRÜNEWALD (Anne); LANG (Anthony E.); PRAMSTALLER (Peter P.); SIMON (David K.); KAINDL (Angela M.); VIEREGGE (Peter); NYGREN (Anders O. H.); BEETZ (Christian); HEDRICH (Katja); KLEIN (Christine)
AF :	Department of Neurology, University of Lübeck/Liibeck/Allemagne (1 aut., 2 aut., 3 aut., 8 aut., 11 aut., 12 aut.); Department of Human Genetics, University of Liibeck/Lübeck/Allemagne (1 aut., 2 aut., 3 aut., 11 aut.); Laboratory for Radiobiology and Molecular Genetics, Institute of Nuclear Sciences "Vinca"/Belgrade/Serbie-et-Mo nténégro (2 aut.); Movement Disorders Centre, Toronto Western Hospital/Toronto/Canada (4 aut.); Institute of Genetic Medicine, EURAC-Research/Bolzano-Bozen/Italie (5 aut.); Department of Neurology, Beth Israel Deaconess Medical Center, Harvard Medical School/Boston, Massachusetts/Etats-Unis (6 aut.); Department of Pediatric Neurology, Charite University Medicine Berlin/Berlin/Allemagne (7 aut.); Department of Pediatric Neurology, University Hospital Dresden/Dresden/Allemagne (7 aut.); Department of Neurology, Hospital Lippe-Lemgo/Lemgo/Allemagne (8 aut.); MRC-Holland/Amsterdam/Pays-Bas (9 aut.); Institut of Clinical Chemistry and Laboratory Diagnostics, University Hospital of the Friedrich Schiller University/Jena/Allemagne (10 aut.)
DT :	Publication en série; Niveau analytique
SO :	Movement disorders; ISSN 0885-3185; Etats-Unis; Da. 2007; Vol. 22; No. 12; Pp. 1708-1714; Bibl. 20 ref.
LA :	Anglais
EA :	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.
CC :	002B17; 002B17G; 002B17A01
FD :	Système nerveux pathologie; Parkinson maladie; Myoclonie; Dystonie; Dépistage; Exon; Réarrangement génique; Amplification; Segawa maladie
FG :	Encéphale pathologie; Extrapyramidal syndrome; Maladie dégénérative; Système nerveux central pathologie; Maladie héréditaire; Mouvement involontaire; Trouble neurologique; Muscle strié pathologie
ED :	Nervous system diseases; Parkinson disease; Myoclonus; Dystonia; Medical screening; Exon; Gene rearrangement; Amplification; Segawa disease
EG :	Cerebral disorder; Extrapyramidal syndrome; Degenerative disease; Central nervous system disease; Genetic disease; Involuntary movement; Neurological disorder; Striated muscle disease
SD :	Sistema nervioso patología; Parkinson enfermedad; Mioclonia; Distonía; Descubrimiento; Exón; Redisposición génica; Amplificación; Segawa enfermedad
LO :	INIST-20953.354000143464810030
ID :	07-0491116

Links to Exploration step

Pascal:07-0491116

Le document en format XML

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<author><name sortKey="Hedrich, Katja" sort="Hedrich, Katja" uniqKey="Hedrich K" first="Katja" last="Hedrich">Katja Hedrich</name>
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<author><name sortKey="Klein, Christine" sort="Klein, Christine" uniqKey="Klein C" first="Christine" last="Klein">Christine Klein</name>
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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>
<author><name sortKey="Djarmati, Ana" sort="Djarmati, Ana" uniqKey="Djarmati A" first="Ana" last="Djarmati">Ana Djarmati</name>
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<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>8 aut.</sZ>
<sZ>11 aut.</sZ>
<sZ>12 aut.</sZ>
</inist:fA14>
</affiliation>
<affiliation><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>
</affiliation>
</author>
<author><name sortKey="Guzvic, Miodrag" sort="Guzvic, Miodrag" uniqKey="Guzvic M" first="Miodrag" last="Guzvic">Miodrag Guzvic</name>
<affiliation><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>
</affiliation>
<affiliation><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>
</affiliation>
<affiliation><inist:fA14 i1="03"><s1>Laboratory for Radiobiology and Molecular Genetics, Institute of Nuclear Sciences "Vinca"</s1>
<s2>Belgrade</s2>
<s3>SCG</s3>
<sZ>2 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Grunewald, Anne" sort="Grunewald, Anne" uniqKey="Grunewald A" first="Anne" last="Grünewald">Anne Grünewald</name>
<affiliation><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>
</affiliation>
<affiliation><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>
</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><inist:fA14 i1="04"><s1>Movement Disorders Centre, Toronto Western Hospital</s1>
<s2>Toronto</s2>
<s3>CAN</s3>
<sZ>4 aut.</sZ>
</inist:fA14>
</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><inist:fA14 i1="05"><s1>Institute of Genetic Medicine, EURAC-Research</s1>
<s2>Bolzano-Bozen</s2>
<s3>ITA</s3>
<sZ>5 aut.</sZ>
</inist:fA14>
</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><inist:fA14 i1="06"><s1>Department of Neurology, Beth Israel Deaconess Medical Center, Harvard Medical School</s1>
<s2>Boston, Massachusetts</s2>
<s3>USA</s3>
<sZ>6 aut.</sZ>
</inist:fA14>
</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><inist:fA14 i1="07"><s1>Department of Pediatric Neurology, Charite University Medicine Berlin</s1>
<s2>Berlin</s2>
<s3>DEU</s3>
<sZ>7 aut.</sZ>
</inist:fA14>
</affiliation>
<affiliation><inist:fA14 i1="08"><s1>Department of Pediatric Neurology, University Hospital Dresden</s1>
<s2>Dresden</s2>
<s3>DEU</s3>
<sZ>7 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Vieregge, Peter" sort="Vieregge, Peter" uniqKey="Vieregge P" first="Peter" last="Vieregge">Peter Vieregge</name>
<affiliation><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>
</affiliation>
<affiliation><inist:fA14 i1="09"><s1>Department of Neurology, Hospital Lippe-Lemgo</s1>
<s2>Lemgo</s2>
<s3>DEU</s3>
<sZ>8 aut.</sZ>
</inist:fA14>
</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><inist:fA14 i1="10"><s1>MRC-Holland</s1>
<s2>Amsterdam</s2>
<s3>NLD</s3>
<sZ>9 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Beetz, Christian" sort="Beetz, Christian" uniqKey="Beetz C" first="Christian" last="Beetz">Christian Beetz</name>
<affiliation><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>
</affiliation>
</author>
<author><name sortKey="Hedrich, Katja" sort="Hedrich, Katja" uniqKey="Hedrich K" first="Katja" last="Hedrich">Katja Hedrich</name>
<affiliation><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>
</affiliation>
<affiliation><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>
</affiliation>
</author>
<author><name sortKey="Klein, Christine" sort="Klein, Christine" uniqKey="Klein C" first="Christine" last="Klein">Christine Klein</name>
<affiliation><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>
</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>
<inist><standard h6="B"><pA><fA01 i1="01" i2="1"><s0>0885-3185</s0>
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<fA05><s2>22</s2>
</fA05>
<fA06><s2>12</s2>
</fA06>
<fA08 i1="01" i2="1" l="ENG"><s1>Rapid and reliable detection of exon rearrangements in various movement disorders genes by multiplex ligation-dependent probe amplification</s1>
</fA08>
<fA11 i1="01" i2="1"><s1>DJARMATI (Ana)</s1>
</fA11>
<fA11 i1="02" i2="1"><s1>GUZVIC (Miodrag)</s1>
</fA11>
<fA11 i1="03" i2="1"><s1>GRÜNEWALD (Anne)</s1>
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<fA11 i1="04" i2="1"><s1>LANG (Anthony E.)</s1>
</fA11>
<fA11 i1="05" i2="1"><s1>PRAMSTALLER (Peter P.)</s1>
</fA11>
<fA11 i1="06" i2="1"><s1>SIMON (David K.)</s1>
</fA11>
<fA11 i1="07" i2="1"><s1>KAINDL (Angela M.)</s1>
</fA11>
<fA11 i1="08" i2="1"><s1>VIEREGGE (Peter)</s1>
</fA11>
<fA11 i1="09" i2="1"><s1>NYGREN (Anders O. H.)</s1>
</fA11>
<fA11 i1="10" i2="1"><s1>BEETZ (Christian)</s1>
</fA11>
<fA11 i1="11" i2="1"><s1>HEDRICH (Katja)</s1>
</fA11>
<fA11 i1="12" i2="1"><s1>KLEIN (Christine)</s1>
</fA11>
<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>
</fA14>
<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>
</fA14>
<fA14 i1="03"><s1>Laboratory for Radiobiology and Molecular Genetics, Institute of Nuclear Sciences "Vinca"</s1>
<s2>Belgrade</s2>
<s3>SCG</s3>
<sZ>2 aut.</sZ>
</fA14>
<fA14 i1="04"><s1>Movement Disorders Centre, Toronto Western Hospital</s1>
<s2>Toronto</s2>
<s3>CAN</s3>
<sZ>4 aut.</sZ>
</fA14>
<fA14 i1="05"><s1>Institute of Genetic Medicine, EURAC-Research</s1>
<s2>Bolzano-Bozen</s2>
<s3>ITA</s3>
<sZ>5 aut.</sZ>
</fA14>
<fA14 i1="06"><s1>Department of Neurology, Beth Israel Deaconess Medical Center, Harvard Medical School</s1>
<s2>Boston, Massachusetts</s2>
<s3>USA</s3>
<sZ>6 aut.</sZ>
</fA14>
<fA14 i1="07"><s1>Department of Pediatric Neurology, Charite University Medicine Berlin</s1>
<s2>Berlin</s2>
<s3>DEU</s3>
<sZ>7 aut.</sZ>
</fA14>
<fA14 i1="08"><s1>Department of Pediatric Neurology, University Hospital Dresden</s1>
<s2>Dresden</s2>
<s3>DEU</s3>
<sZ>7 aut.</sZ>
</fA14>
<fA14 i1="09"><s1>Department of Neurology, Hospital Lippe-Lemgo</s1>
<s2>Lemgo</s2>
<s3>DEU</s3>
<sZ>8 aut.</sZ>
</fA14>
<fA14 i1="10"><s1>MRC-Holland</s1>
<s2>Amsterdam</s2>
<s3>NLD</s3>
<sZ>9 aut.</sZ>
</fA14>
<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>
</fA14>
<fA20><s1>1708-1714</s1>
</fA20>
<fA21><s1>2007</s1>
</fA21>
<fA23 i1="01"><s0>ENG</s0>
</fA23>
<fA43 i1="01"><s1>INIST</s1>
<s2>20953</s2>
<s5>354000143464810030</s5>
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<fA44><s0>0000</s0>
<s1>© 2007 INIST-CNRS. All rights reserved.</s1>
</fA44>
<fA45><s0>20 ref.</s0>
</fA45>
<fA47 i1="01" i2="1"><s0>07-0491116</s0>
</fA47>
<fA60><s1>P</s1>
</fA60>
<fA61><s0>A</s0>
</fA61>
<fA64 i1="01" i2="1"><s0>Movement disorders</s0>
</fA64>
<fA66 i1="01"><s0>USA</s0>
</fA66>
<fC01 i1="01" l="ENG"><s0>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.</s0>
</fC01>
<fC02 i1="01" i2="X"><s0>002B17</s0>
</fC02>
<fC02 i1="02" i2="X"><s0>002B17G</s0>
</fC02>
<fC02 i1="03" i2="X"><s0>002B17A01</s0>
</fC02>
<fC03 i1="01" i2="X" l="FRE"><s0>Système nerveux pathologie</s0>
<s5>01</s5>
</fC03>
<fC03 i1="01" i2="X" l="ENG"><s0>Nervous system diseases</s0>
<s5>01</s5>
</fC03>
<fC03 i1="01" i2="X" l="SPA"><s0>Sistema nervioso patología</s0>
<s5>01</s5>
</fC03>
<fC03 i1="02" i2="X" l="FRE"><s0>Parkinson maladie</s0>
<s5>02</s5>
</fC03>
<fC03 i1="02" i2="X" l="ENG"><s0>Parkinson disease</s0>
<s5>02</s5>
</fC03>
<fC03 i1="02" i2="X" l="SPA"><s0>Parkinson enfermedad</s0>
<s5>02</s5>
</fC03>
<fC03 i1="03" i2="X" l="FRE"><s0>Myoclonie</s0>
<s5>03</s5>
</fC03>
<fC03 i1="03" i2="X" l="ENG"><s0>Myoclonus</s0>
<s5>03</s5>
</fC03>
<fC03 i1="03" i2="X" l="SPA"><s0>Mioclonia</s0>
<s5>03</s5>
</fC03>
<fC03 i1="04" i2="X" l="FRE"><s0>Dystonie</s0>
<s5>04</s5>
</fC03>
<fC03 i1="04" i2="X" l="ENG"><s0>Dystonia</s0>
<s5>04</s5>
</fC03>
<fC03 i1="04" i2="X" l="SPA"><s0>Distonía</s0>
<s5>04</s5>
</fC03>
<fC03 i1="05" i2="X" l="FRE"><s0>Dépistage</s0>
<s5>09</s5>
</fC03>
<fC03 i1="05" i2="X" l="ENG"><s0>Medical screening</s0>
<s5>09</s5>
</fC03>
<fC03 i1="05" i2="X" l="SPA"><s0>Descubrimiento</s0>
<s5>09</s5>
</fC03>
<fC03 i1="06" i2="X" l="FRE"><s0>Exon</s0>
<s5>10</s5>
</fC03>
<fC03 i1="06" i2="X" l="ENG"><s0>Exon</s0>
<s5>10</s5>
</fC03>
<fC03 i1="06" i2="X" l="SPA"><s0>Exón</s0>
<s5>10</s5>
</fC03>
<fC03 i1="07" i2="X" l="FRE"><s0>Réarrangement génique</s0>
<s5>11</s5>
</fC03>
<fC03 i1="07" i2="X" l="ENG"><s0>Gene rearrangement</s0>
<s5>11</s5>
</fC03>
<fC03 i1="07" i2="X" l="SPA"><s0>Redisposición génica</s0>
<s5>11</s5>
</fC03>
<fC03 i1="08" i2="X" l="FRE"><s0>Amplification</s0>
<s5>12</s5>
</fC03>
<fC03 i1="08" i2="X" l="ENG"><s0>Amplification</s0>
<s5>12</s5>
</fC03>
<fC03 i1="08" i2="X" l="SPA"><s0>Amplificación</s0>
<s5>12</s5>
</fC03>
<fC03 i1="09" i2="X" l="FRE"><s0>Segawa maladie</s0>
<s4>CD</s4>
<s5>96</s5>
</fC03>
<fC03 i1="09" i2="X" l="ENG"><s0>Segawa disease</s0>
<s4>CD</s4>
<s5>96</s5>
</fC03>
<fC03 i1="09" i2="X" l="SPA"><s0>Segawa enfermedad</s0>
<s4>CD</s4>
<s5>96</s5>
</fC03>
<fC07 i1="01" i2="X" l="FRE"><s0>Encéphale pathologie</s0>
<s5>37</s5>
</fC07>
<fC07 i1="01" i2="X" l="ENG"><s0>Cerebral disorder</s0>
<s5>37</s5>
</fC07>
<fC07 i1="01" i2="X" l="SPA"><s0>Encéfalo patología</s0>
<s5>37</s5>
</fC07>
<fC07 i1="02" i2="X" l="FRE"><s0>Extrapyramidal syndrome</s0>
<s5>38</s5>
</fC07>
<fC07 i1="02" i2="X" l="ENG"><s0>Extrapyramidal syndrome</s0>
<s5>38</s5>
</fC07>
<fC07 i1="02" i2="X" l="SPA"><s0>Extrapiramidal síndrome</s0>
<s5>38</s5>
</fC07>
<fC07 i1="03" i2="X" l="FRE"><s0>Maladie dégénérative</s0>
<s5>39</s5>
</fC07>
<fC07 i1="03" i2="X" l="ENG"><s0>Degenerative disease</s0>
<s5>39</s5>
</fC07>
<fC07 i1="03" i2="X" l="SPA"><s0>Enfermedad degenerativa</s0>
<s5>39</s5>
</fC07>
<fC07 i1="04" i2="X" l="FRE"><s0>Système nerveux central pathologie</s0>
<s5>40</s5>
</fC07>
<fC07 i1="04" i2="X" l="ENG"><s0>Central nervous system disease</s0>
<s5>40</s5>
</fC07>
<fC07 i1="04" i2="X" l="SPA"><s0>Sistema nervosio central patología</s0>
<s5>40</s5>
</fC07>
<fC07 i1="05" i2="X" l="FRE"><s0>Maladie héréditaire</s0>
<s5>41</s5>
</fC07>
<fC07 i1="05" i2="X" l="ENG"><s0>Genetic disease</s0>
<s5>41</s5>
</fC07>
<fC07 i1="05" i2="X" l="SPA"><s0>Enfermedad hereditaria</s0>
<s5>41</s5>
</fC07>
<fC07 i1="06" i2="X" l="FRE"><s0>Mouvement involontaire</s0>
<s5>42</s5>
</fC07>
<fC07 i1="06" i2="X" l="ENG"><s0>Involuntary movement</s0>
<s5>42</s5>
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<fC07 i1="06" i2="X" l="SPA"><s0>Movimiento involuntario</s0>
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<s5>44</s5>
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<s5>44</s5>
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<ET>Rapid and reliable detection of exon rearrangements in various movement disorders genes by multiplex ligation-dependent probe amplification</ET>
<AU>DJARMATI (Ana); GUZVIC (Miodrag); GRÜNEWALD (Anne); LANG (Anthony E.); PRAMSTALLER (Peter P.); SIMON (David K.); KAINDL (Angela M.); VIEREGGE (Peter); NYGREN (Anders O. H.); BEETZ (Christian); HEDRICH (Katja); KLEIN (Christine)</AU>
<AF>Department of Neurology, University of Lübeck/Liibeck/Allemagne (1 aut., 2 aut., 3 aut., 8 aut., 11 aut., 12 aut.); Department of Human Genetics, University of Liibeck/Lübeck/Allemagne (1 aut., 2 aut., 3 aut., 11 aut.); Laboratory for Radiobiology and Molecular Genetics, Institute of Nuclear Sciences "Vinca"/Belgrade/Serbie-et-Mo nténégro (2 aut.); Movement Disorders Centre, Toronto Western Hospital/Toronto/Canada (4 aut.); Institute of Genetic Medicine, EURAC-Research/Bolzano-Bozen/Italie (5 aut.); Department of Neurology, Beth Israel Deaconess Medical Center, Harvard Medical School/Boston, Massachusetts/Etats-Unis (6 aut.); Department of Pediatric Neurology, Charite University Medicine Berlin/Berlin/Allemagne (7 aut.); Department of Pediatric Neurology, University Hospital Dresden/Dresden/Allemagne (7 aut.); Department of Neurology, Hospital Lippe-Lemgo/Lemgo/Allemagne (8 aut.); MRC-Holland/Amsterdam/Pays-Bas (9 aut.); Institut of Clinical Chemistry and Laboratory Diagnostics, University Hospital of the Friedrich Schiller University/Jena/Allemagne (10 aut.)</AF>
<DT>Publication en série; Niveau analytique</DT>
<SO>Movement disorders; ISSN 0885-3185; Etats-Unis; Da. 2007; Vol. 22; No. 12; Pp. 1708-1714; Bibl. 20 ref.</SO>
<LA>Anglais</LA>
<EA>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.</EA>
<CC>002B17; 002B17G; 002B17A01</CC>
<FD>Système nerveux pathologie; Parkinson maladie; Myoclonie; Dystonie; Dépistage; Exon; Réarrangement génique; Amplification; Segawa maladie</FD>
<FG>Encéphale pathologie; Extrapyramidal syndrome; Maladie dégénérative; Système nerveux central pathologie; Maladie héréditaire; Mouvement involontaire; Trouble neurologique; Muscle strié pathologie</FG>
<ED>Nervous system diseases; Parkinson disease; Myoclonus; Dystonia; Medical screening; Exon; Gene rearrangement; Amplification; Segawa disease</ED>
<EG>Cerebral disorder; Extrapyramidal syndrome; Degenerative disease; Central nervous system disease; Genetic disease; Involuntary movement; Neurological disorder; Striated muscle disease</EG>
<SD>Sistema nervioso patología; Parkinson enfermedad; Mioclonia; Distonía; Descubrimiento; Exón; Redisposición génica; Amplificación; Segawa enfermedad</SD>
<LO>INIST-20953.354000143464810030</LO>
<ID>07-0491116</ID>
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	Movement Disorders (revue)
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Movement Disorders (revue)

Rapid and reliable detection of exon rearrangements in various movement disorders genes by multiplex ligation-dependent probe amplification

Rapid and reliable detection of exon rearrangements in various movement disorders genes by multiplex ligation-dependent probe amplification

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