ParkinsonCanadaV1, Main, Exploration, bibRecord, 000162

The role of mutations in COL6A3 in isolated dystonia.

Identifieur interne : 000162 ( Main/Exploration ); précédent : 000161; suivant : 000163

The role of mutations in COL6A3 in isolated dystonia.

Auteurs : Katja Lohmann [Allemagne] ; Felix Schlicht [Allemagne] ; Marina Svetel [Serbie] ; Frauke Hinrichs [Allemagne] ; Simone Zittel [Allemagne] ; Julia Graf [Allemagne] ; Thora Lohnau [Allemagne] ; Alexander Schmidt [Allemagne] ; Pablo Mir [Espagne] ; Patricia Krause [Allemagne] ; Antony E. Lang [Canada] ; Hans-Christian Jabusch [Allemagne] ; Alexander Wolters [Allemagne] ; Christoph Kamm [Allemagne] ; Kirsten E. Zeuner [Allemagne] ; Eckart Altenmüller [Allemagne] ; Sadaf Naz [Pakistan] ; Sun Ju Chung [Corée du Sud] ; Vladimir S. Kostic [Serbie] ; Alexander Münchau [Allemagne] ; Andrea A. Kühn [Allemagne] ; Norbert Brüggemann [Allemagne] ; Christine Klein [Allemagne]

Source :

Journal of neurology [ 1432-1459 ] ; 2016.

RBID : pubmed:26872670

English descriptors

KwdEn :
- Adult, Aged, Collagen Type VI (genetics), DNA Mutational Analysis, Dystonic Disorders (genetics), Female, Genetic Predisposition to Disease (genetics), Humans, Male, Middle Aged, Mutation, Pedigree.
MESH :
- chemical , genetics : Collagen Type VI.
- genetics : Dystonic Disorders, Genetic Predisposition to Disease.
- Adult, Aged, DNA Mutational Analysis, Female, Humans, Male, Middle Aged, Mutation, Pedigree.

Abstract

Specific mutations in COL6A3 have recently been reported as the cause of isolated recessive dystonia, which is a rare movement disorder. In all patients, at least one mutation was located in Exons 41 and 42. In an attempt to replicate these findings, we assessed by direct sequencing the frequency of rare variants in Exons 41 and 42 of COL6A3 in 955 patients with isolated or combined dystonia or with another movement disorder with dystonic features. We identified nine heterozygous carriers of rare variants including five different missense mutations and an extremely rare synonymous variant. In these nine patients, we sequenced the remaining 41 coding exons of COL6A3 to test for a second mutation in the compound heterozygous state. In only one of them, a second rare variant was identified (Thr732Met + Pro3082Arg). Of note, this patient had been diagnosed with Parkinson´s disease (with dystonic posturing) due to homozygous PINK1 mutations. The COL6A3 mutations clearly did not segregate with the disease in the four affected siblings of this family. Further, there was no indication for a disease-modifying effect of the COL6A3 mutations since disease severity or age at onset did not correlate with the number of COL6A3 mutated alleles in this family. In conjunction with the relatively high frequency of homozygous carriers of reported mutations in publically available databases, our data call a causal role for variants in COL6A3 in isolated dystonia into question.

DOI: 10.1007/s00415-016-8046-y
PubMed: 26872670

Affiliations:

Allemagne, Canada, Corée du Sud, Espagne, Pakistan, Serbie
Basse-Saxe, Berlin, Schleswig-Holstein
Berlin, Hanovre, Kiel

Le document en format XML

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<author><name sortKey="Schmidt, Alexander" sort="Schmidt, Alexander" uniqKey="Schmidt A" first="Alexander" last="Schmidt">Alexander Schmidt</name>
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<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Institute of Neurogenetics, University of Lübeck; Ratzeburger Allee 160, 23538, Lübeck</wicri:regionArea>
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<wicri:noRegion>23538, Lübeck</wicri:noRegion>
<wicri:noRegion>Lübeck</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Mir, Pablo" sort="Mir, Pablo" uniqKey="Mir P" first="Pablo" last="Mir">Pablo Mir</name>
<affiliation wicri:level="1"><nlm:affiliation>Unidad de Trastornos del Movimiento, Servicio de Neurología y Neurofisiología Clínica, Instituto de Biomedicina de Sevilla, Hospital Universitario Virgen del Rocío/CSIC/Universidad de Sevilla, CIBERNED, 41013, Seville, Spain.</nlm:affiliation>
<country xml:lang="fr">Espagne</country>
<wicri:regionArea>Unidad de Trastornos del Movimiento, Servicio de Neurología y Neurofisiología Clínica, Instituto de Biomedicina de Sevilla, Hospital Universitario Virgen del Rocío/CSIC/Universidad de Sevilla, CIBERNED, 41013, Seville</wicri:regionArea>
<wicri:noRegion>Seville</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Krause, Patricia" sort="Krause, Patricia" uniqKey="Krause P" first="Patricia" last="Krause">Patricia Krause</name>
<affiliation wicri:level="3"><nlm:affiliation>Department of Neurology, Charité, University Medicine Berlin, 13353, Berlin, Germany.</nlm:affiliation>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Department of Neurology, Charité, University Medicine Berlin, 13353, Berlin</wicri:regionArea>
<placeName><region type="land" nuts="3">Berlin</region>
<settlement type="city">Berlin</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Lang, Antony E" sort="Lang, Antony E" uniqKey="Lang A" first="Antony E" last="Lang">Antony E. Lang</name>
<affiliation wicri:level="1"><nlm:affiliation>Morton and Gloria Shulman Movement Disorders Clinic and the Edmond J. Safra Program in Parkinson's Disease, Toronto Western Hospital, Toronto, ON, M5T 2S8, Canada.</nlm:affiliation>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>Morton and Gloria Shulman Movement Disorders Clinic and the Edmond J. Safra Program in Parkinson's Disease, Toronto Western Hospital, Toronto, ON, M5T 2S8</wicri:regionArea>
<wicri:noRegion>M5T 2S8</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Jabusch, Hans Christian" sort="Jabusch, Hans Christian" uniqKey="Jabusch H" first="Hans-Christian" last="Jabusch">Hans-Christian Jabusch</name>
<affiliation wicri:level="3"><nlm:affiliation>Institute of Music Physiology and Musicians' Medicine, Hanover University of Music, Drama and Media, 30175, Hanover, Germany.</nlm:affiliation>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Institute of Music Physiology and Musicians' Medicine, Hanover University of Music, Drama and Media, 30175, Hanover</wicri:regionArea>
<placeName><region type="land" nuts="2">Basse-Saxe</region>
<settlement type="city">Hanovre</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Wolters, Alexander" sort="Wolters, Alexander" uniqKey="Wolters A" first="Alexander" last="Wolters">Alexander Wolters</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Neurology, University of Rostock, 18147, Rostock, Germany.</nlm:affiliation>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Department of Neurology, University of Rostock, 18147, Rostock</wicri:regionArea>
<wicri:noRegion>18147, Rostock</wicri:noRegion>
<wicri:noRegion>18147, Rostock</wicri:noRegion>
<wicri:noRegion>Rostock</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Kamm, Christoph" sort="Kamm, Christoph" uniqKey="Kamm C" first="Christoph" last="Kamm">Christoph Kamm</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Neurology, University of Rostock, 18147, Rostock, Germany.</nlm:affiliation>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Department of Neurology, University of Rostock, 18147, Rostock</wicri:regionArea>
<wicri:noRegion>18147, Rostock</wicri:noRegion>
<wicri:noRegion>18147, Rostock</wicri:noRegion>
<wicri:noRegion>Rostock</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Zeuner, Kirsten E" sort="Zeuner, Kirsten E" uniqKey="Zeuner K" first="Kirsten E" last="Zeuner">Kirsten E. Zeuner</name>
<affiliation wicri:level="3"><nlm:affiliation>Department of Neurology, Christian Albrechts University, 24105, Kiel, Germany.</nlm:affiliation>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Department of Neurology, Christian Albrechts University, 24105, Kiel</wicri:regionArea>
<placeName><region type="land" nuts="2">Schleswig-Holstein</region>
<settlement type="city">Kiel</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Altenmuller, Eckart" sort="Altenmuller, Eckart" uniqKey="Altenmuller E" first="Eckart" last="Altenmüller">Eckart Altenmüller</name>
<affiliation wicri:level="3"><nlm:affiliation>Institute of Music Physiology and Musicians' Medicine, Hanover University of Music, Drama and Media, 30175, Hanover, Germany.</nlm:affiliation>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Institute of Music Physiology and Musicians' Medicine, Hanover University of Music, Drama and Media, 30175, Hanover</wicri:regionArea>
<placeName><region type="land" nuts="2">Basse-Saxe</region>
<settlement type="city">Hanovre</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Naz, Sadaf" sort="Naz, Sadaf" uniqKey="Naz S" first="Sadaf" last="Naz">Sadaf Naz</name>
<affiliation wicri:level="1"><nlm:affiliation>School of Biological Sciences, University of the Punjab, Quaid-i-Azam Campus, Lahore, 54590, Pakistan.</nlm:affiliation>
<country xml:lang="fr">Pakistan</country>
<wicri:regionArea>School of Biological Sciences, University of the Punjab, Quaid-i-Azam Campus, Lahore, 54590</wicri:regionArea>
<wicri:noRegion>54590</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Chung, Sun Ju" sort="Chung, Sun Ju" uniqKey="Chung S" first="Sun Ju" last="Chung">Sun Ju Chung</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Neurology, Asan Medical Center, University of Ulsan College of Medicine, Seoul, 05505, Korea.</nlm:affiliation>
<country xml:lang="fr">Corée du Sud</country>
<wicri:regionArea>Department of Neurology, Asan Medical Center, University of Ulsan College of Medicine, Seoul, 05505</wicri:regionArea>
<wicri:noRegion>05505</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Kostic, Vladimir S" sort="Kostic, Vladimir S" uniqKey="Kostic V" first="Vladimir S" last="Kostic">Vladimir S. Kostic</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Neurology, Belgrade University, 11000, Belgrade, Serbia.</nlm:affiliation>
<country xml:lang="fr">Serbie</country>
<wicri:regionArea>Department of Neurology, Belgrade University, 11000, Belgrade</wicri:regionArea>
<wicri:noRegion>Belgrade</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Munchau, Alexander" sort="Munchau, Alexander" uniqKey="Munchau A" first="Alexander" last="Münchau">Alexander Münchau</name>
<affiliation wicri:level="1"><nlm:affiliation>Institute of Neurogenetics, University of Lübeck; Ratzeburger Allee 160, 23538, Lübeck, Germany.</nlm:affiliation>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Institute of Neurogenetics, University of Lübeck; Ratzeburger Allee 160, 23538, Lübeck</wicri:regionArea>
<wicri:noRegion>23538, Lübeck</wicri:noRegion>
<wicri:noRegion>23538, Lübeck</wicri:noRegion>
<wicri:noRegion>Lübeck</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Kuhn, Andrea A" sort="Kuhn, Andrea A" uniqKey="Kuhn A" first="Andrea A" last="Kühn">Andrea A. Kühn</name>
<affiliation wicri:level="3"><nlm:affiliation>Department of Neurology, Charité, University Medicine Berlin, 13353, Berlin, Germany.</nlm:affiliation>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Department of Neurology, Charité, University Medicine Berlin, 13353, Berlin</wicri:regionArea>
<placeName><region type="land" nuts="3">Berlin</region>
<settlement type="city">Berlin</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Bruggemann, Norbert" sort="Bruggemann, Norbert" uniqKey="Bruggemann N" first="Norbert" last="Brüggemann">Norbert Brüggemann</name>
<affiliation wicri:level="1"><nlm:affiliation>Institute of Neurogenetics, University of Lübeck; Ratzeburger Allee 160, 23538, Lübeck, Germany.</nlm:affiliation>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Institute of Neurogenetics, University of Lübeck; Ratzeburger Allee 160, 23538, Lübeck</wicri:regionArea>
<wicri:noRegion>23538, Lübeck</wicri:noRegion>
<wicri:noRegion>23538, 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"><nlm:affiliation>Institute of Neurogenetics, University of Lübeck; Ratzeburger Allee 160, 23538, Lübeck, Germany.</nlm:affiliation>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Institute of Neurogenetics, University of Lübeck; Ratzeburger Allee 160, 23538, Lübeck</wicri:regionArea>
<wicri:noRegion>23538, Lübeck</wicri:noRegion>
<wicri:noRegion>23538, Lübeck</wicri:noRegion>
<wicri:noRegion>Lübeck</wicri:noRegion>
</affiliation>
</author>
</analytic>
<series><title level="j">Journal of neurology</title>
<idno type="eISSN">1432-1459</idno>
<imprint><date when="2016" type="published">2016</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term>
<term>Aged</term>
<term>Collagen Type VI (genetics)</term>
<term>DNA Mutational Analysis</term>
<term>Dystonic Disorders (genetics)</term>
<term>Female</term>
<term>Genetic Predisposition to Disease (genetics)</term>
<term>Humans</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Mutation</term>
<term>Pedigree</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Collagen Type VI</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Dystonic Disorders</term>
<term>Genetic Predisposition to Disease</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Adult</term>
<term>Aged</term>
<term>DNA Mutational Analysis</term>
<term>Female</term>
<term>Humans</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Mutation</term>
<term>Pedigree</term>
</keywords>
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<front><div type="abstract" xml:lang="en">Specific mutations in COL6A3 have recently been reported as the cause of isolated recessive dystonia, which is a rare movement disorder. In all patients, at least one mutation was located in Exons 41 and 42. In an attempt to replicate these findings, we assessed by direct sequencing the frequency of rare variants in Exons 41 and 42 of COL6A3 in 955 patients with isolated or combined dystonia or with another movement disorder with dystonic features. We identified nine heterozygous carriers of rare variants including five different missense mutations and an extremely rare synonymous variant. In these nine patients, we sequenced the remaining 41 coding exons of COL6A3 to test for a second mutation in the compound heterozygous state. In only one of them, a second rare variant was identified (Thr732Met + Pro3082Arg). Of note, this patient had been diagnosed with Parkinson´s disease (with dystonic posturing) due to homozygous PINK1 mutations. The COL6A3 mutations clearly did not segregate with the disease in the four affected siblings of this family. Further, there was no indication for a disease-modifying effect of the COL6A3 mutations since disease severity or age at onset did not correlate with the number of COL6A3 mutated alleles in this family. In conjunction with the relatively high frequency of homozygous carriers of reported mutations in publically available databases, our data call a causal role for variants in COL6A3 in isolated dystonia into question.</div>
</front>
</TEI>
<affiliations><list><country><li>Allemagne</li>
<li>Canada</li>
<li>Corée du Sud</li>
<li>Espagne</li>
<li>Pakistan</li>
<li>Serbie</li>
</country>
<region><li>Basse-Saxe</li>
<li>Berlin</li>
<li>Schleswig-Holstein</li>
</region>
<settlement><li>Berlin</li>
<li>Hanovre</li>
<li>Kiel</li>
</settlement>
</list>
<tree><country name="Allemagne"><noRegion><name sortKey="Lohmann, Katja" sort="Lohmann, Katja" uniqKey="Lohmann K" first="Katja" last="Lohmann">Katja Lohmann</name>
</noRegion>
<name sortKey="Altenmuller, Eckart" sort="Altenmuller, Eckart" uniqKey="Altenmuller E" first="Eckart" last="Altenmüller">Eckart Altenmüller</name>
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<name sortKey="Graf, Julia" sort="Graf, Julia" uniqKey="Graf J" first="Julia" last="Graf">Julia Graf</name>
<name sortKey="Hinrichs, Frauke" sort="Hinrichs, Frauke" uniqKey="Hinrichs F" first="Frauke" last="Hinrichs">Frauke Hinrichs</name>
<name sortKey="Jabusch, Hans Christian" sort="Jabusch, Hans Christian" uniqKey="Jabusch H" first="Hans-Christian" last="Jabusch">Hans-Christian Jabusch</name>
<name sortKey="Kamm, Christoph" sort="Kamm, Christoph" uniqKey="Kamm C" first="Christoph" last="Kamm">Christoph Kamm</name>
<name sortKey="Klein, Christine" sort="Klein, Christine" uniqKey="Klein C" first="Christine" last="Klein">Christine Klein</name>
<name sortKey="Krause, Patricia" sort="Krause, Patricia" uniqKey="Krause P" first="Patricia" last="Krause">Patricia Krause</name>
<name sortKey="Kuhn, Andrea A" sort="Kuhn, Andrea A" uniqKey="Kuhn A" first="Andrea A" last="Kühn">Andrea A. Kühn</name>
<name sortKey="Lohnau, Thora" sort="Lohnau, Thora" uniqKey="Lohnau T" first="Thora" last="Lohnau">Thora Lohnau</name>
<name sortKey="Munchau, Alexander" sort="Munchau, Alexander" uniqKey="Munchau A" first="Alexander" last="Münchau">Alexander Münchau</name>
<name sortKey="Schlicht, Felix" sort="Schlicht, Felix" uniqKey="Schlicht F" first="Felix" last="Schlicht">Felix Schlicht</name>
<name sortKey="Schmidt, Alexander" sort="Schmidt, Alexander" uniqKey="Schmidt A" first="Alexander" last="Schmidt">Alexander Schmidt</name>
<name sortKey="Wolters, Alexander" sort="Wolters, Alexander" uniqKey="Wolters A" first="Alexander" last="Wolters">Alexander Wolters</name>
<name sortKey="Zeuner, Kirsten E" sort="Zeuner, Kirsten E" uniqKey="Zeuner K" first="Kirsten E" last="Zeuner">Kirsten E. Zeuner</name>
<name sortKey="Zittel, Simone" sort="Zittel, Simone" uniqKey="Zittel S" first="Simone" last="Zittel">Simone Zittel</name>
</country>
<country name="Serbie"><noRegion><name sortKey="Svetel, Marina" sort="Svetel, Marina" uniqKey="Svetel M" first="Marina" last="Svetel">Marina Svetel</name>
</noRegion>
<name sortKey="Kostic, Vladimir S" sort="Kostic, Vladimir S" uniqKey="Kostic V" first="Vladimir S" last="Kostic">Vladimir S. Kostic</name>
</country>
<country name="Espagne"><noRegion><name sortKey="Mir, Pablo" sort="Mir, Pablo" uniqKey="Mir P" first="Pablo" last="Mir">Pablo Mir</name>
</noRegion>
</country>
<country name="Canada"><noRegion><name sortKey="Lang, Antony E" sort="Lang, Antony E" uniqKey="Lang A" first="Antony E" last="Lang">Antony E. Lang</name>
</noRegion>
</country>
<country name="Pakistan"><noRegion><name sortKey="Naz, Sadaf" sort="Naz, Sadaf" uniqKey="Naz S" first="Sadaf" last="Naz">Sadaf Naz</name>
</noRegion>
</country>
<country name="Corée du Sud"><noRegion><name sortKey="Chung, Sun Ju" sort="Chung, Sun Ju" uniqKey="Chung S" first="Sun Ju" last="Chung">Sun Ju Chung</name>
</noRegion>
</country>
</tree>
</affiliations>
</record>

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La maladie de Parkinson au Canada (serveur d'exploration)

The role of mutations in COL6A3 in isolated dystonia.

The role of mutations in COL6A3 in isolated dystonia.

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	La maladie de Parkinson au Canada (serveur d'exploration)
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