MovDisordV3, Main, Exploration, bibRecord, 001125

Exome Sequencing in a Family With Restless Legs Syndrome

Identifieur interne : 001125 ( Main/Exploration ); précédent : 001124; suivant : 001126

Exome Sequencing in a Family With Restless Legs Syndrome

Auteurs : Anne Weissbach [Allemagne] ; Katharina Siegesmund [Allemagne] ; Norbert Bruggemann [Allemagne] ; Alexander Schmidt [Allemagne] ; Meike Kasten [Allemagne] ; Irene Pichler [Allemagne] ; Hiltrud Muhle [Allemagne] ; Ebba Lohmann [Turquie] ; Thora Lohnau [Allemagne] ; Eberhard Schwinger [Allemagne] ; Johann Hagenah [Allemagne] ; Ulrich Stephani [Allemagne] ; Peter P. Pramstaller [Allemagne] ; Christine Klein [Allemagne] ; Katja Lohmann [Allemagne]

Source :

Movement disorders [ 0885-3185 ] ; 2012.

RBID : Pascal:13-0017967

Descripteurs français

Pascal (Inist)
- Syndrome des jambes sans repos, Pathologie du système nerveux, Séquence nucléotide, Séquençage, Génome, Liaison génétique.

English descriptors

KwdEn :
- Genetic linkage, Genome, Nervous system diseases, Nucleotide sequence, Restless legs syndrome, Sequencing.

Abstract

Background: Restless legs syndrome (RLS) has a high familial aggregation. To date, several loci and genetic risk factors have been identified, but no causative gene mutation has been found. Methods: We evaluated a German family with autosomal dominantly inherited RLS in 7 definitely and 2 possibly affected members by genome-wide linkage analysis and exome sequencing. Results: We identified three novel missense and one splice site variant in the PCDHA3, WWC2, ATRN, and FAT2 genes that segregated with RLS in the family. All four exons of the PCDHA3 gene, the most plausible candidate, were sequenced in 64 unrelated RLS cases and 250 controls. This revealed three additional rare missense variants (frequency <1 %) of unknown pathogenicity in 2 patients and 1 control. Conclusions: We present the first next-generation sequencing study on RLS and suggest PCDHA3 as a candidate gene for RLS.

Affiliations:

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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">Exome Sequencing in a Family With Restless Legs Syndrome</title>
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<author><name sortKey="Lohmann, Ebba" sort="Lohmann, Ebba" uniqKey="Lohmann E" first="Ebba" last="Lohmann">Ebba Lohmann</name>
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<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Section of Clinical and Molecular Neurogenetics at the Department of Neurology, University of Lübeck</s1>
<s2>Lübeck</s2>
<s3>DEU</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>9 aut.</sZ>
<sZ>11 aut.</sZ>
<sZ>14 aut.</sZ>
<sZ>15 aut.</sZ>
</inist:fA14>
<country>Allemagne</country>
<wicri:noRegion>Lübeck</wicri:noRegion>
<wicri:noRegion>University of Lübeck</wicri:noRegion>
<wicri:noRegion>Lübeck</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Schwinger, Eberhard" sort="Schwinger, Eberhard" uniqKey="Schwinger E" first="Eberhard" last="Schwinger">Eberhard Schwinger</name>
<affiliation wicri:level="1"><inist:fA14 i1="06"><s1>Department of Human Genetics, University of Lübeck</s1>
<s2>Lübeck</s2>
<s3>DEU</s3>
<sZ>10 aut.</sZ>
</inist:fA14>
<country>Allemagne</country>
<wicri:noRegion>Lübeck</wicri:noRegion>
<wicri:noRegion>University of Lübeck</wicri:noRegion>
<wicri:noRegion>Lübeck</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Hagenah, Johann" sort="Hagenah, Johann" uniqKey="Hagenah J" first="Johann" last="Hagenah">Johann Hagenah</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Section of Clinical and Molecular Neurogenetics at the Department of Neurology, University of Lübeck</s1>
<s2>Lübeck</s2>
<s3>DEU</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>9 aut.</sZ>
<sZ>11 aut.</sZ>
<sZ>14 aut.</sZ>
<sZ>15 aut.</sZ>
</inist:fA14>
<country>Allemagne</country>
<wicri:noRegion>Lübeck</wicri:noRegion>
<wicri:noRegion>University of Lübeck</wicri:noRegion>
<wicri:noRegion>Lübeck</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Stephani, Ulrich" sort="Stephani, Ulrich" uniqKey="Stephani U" first="Ulrich" last="Stephani">Ulrich Stephani</name>
<affiliation wicri:level="3"><inist:fA14 i1="04"><s1>Department of Neuropediatrics, University of Kiel</s1>
<s2>Kiel</s2>
<s3>DEU</s3>
<sZ>7 aut.</sZ>
<sZ>12 aut.</sZ>
</inist:fA14>
<country>Allemagne</country>
<placeName><region type="land" nuts="2">Schleswig-Holstein</region>
<settlement type="city">Kiel</settlement>
</placeName>
</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"><inist:fA14 i1="03"><s1>Center for Biomedicine; European Academy Bozen/ Bolzano, Bolzano; Italy; Affiliated Institute of the University of Lübeck</s1>
<s2>Lübeck</s2>
<s3>DEU</s3>
<sZ>6 aut.</sZ>
<sZ>13 aut.</sZ>
</inist:fA14>
<country>Allemagne</country>
<wicri:noRegion>Lübeck</wicri:noRegion>
<wicri:noRegion>Bolzano; Italy; Affiliated Institute of the University of 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"><inist:fA14 i1="01"><s1>Section of Clinical and Molecular Neurogenetics at the Department of Neurology, University of Lübeck</s1>
<s2>Lübeck</s2>
<s3>DEU</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>9 aut.</sZ>
<sZ>11 aut.</sZ>
<sZ>14 aut.</sZ>
<sZ>15 aut.</sZ>
</inist:fA14>
<country>Allemagne</country>
<wicri:noRegion>Lübeck</wicri:noRegion>
<wicri:noRegion>University of Lübeck</wicri:noRegion>
<wicri:noRegion>Lübeck</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Lohmann, Katja" sort="Lohmann, Katja" uniqKey="Lohmann K" first="Katja" last="Lohmann">Katja Lohmann</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Section of Clinical and Molecular Neurogenetics at the Department of Neurology, University of Lübeck</s1>
<s2>Lübeck</s2>
<s3>DEU</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>9 aut.</sZ>
<sZ>11 aut.</sZ>
<sZ>14 aut.</sZ>
<sZ>15 aut.</sZ>
</inist:fA14>
<country>Allemagne</country>
<wicri:noRegion>Lübeck</wicri:noRegion>
<wicri:noRegion>University of Lübeck</wicri:noRegion>
<wicri:noRegion>Lübeck</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="2012">2012</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>Genetic linkage</term>
<term>Genome</term>
<term>Nervous system diseases</term>
<term>Nucleotide sequence</term>
<term>Restless legs syndrome</term>
<term>Sequencing</term>
</keywords>
<keywords scheme="Pascal" xml:lang="fr"><term>Syndrome des jambes sans repos</term>
<term>Pathologie du   système nerveux</term>
<term>Séquence nucléotide</term>
<term>Séquençage</term>
<term>Génome</term>
<term>Liaison génétique</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en">Background: Restless legs syndrome (RLS) has a high familial aggregation. To date, several loci and genetic risk factors have been identified, but no causative gene mutation has been found. Methods: We evaluated a German family with autosomal dominantly inherited RLS in 7 definitely and 2 possibly affected members by genome-wide linkage analysis and exome sequencing. Results: We identified three novel missense and one splice site variant in the PCDHA3, WWC2, ATRN, and FAT2 genes that segregated with RLS in the family. All four exons of the PCDHA3 gene, the most plausible candidate, were sequenced in 64 unrelated RLS cases and 250 controls. This revealed three additional rare missense variants (frequency <1 %) of unknown pathogenicity in 2 patients and 1 control. Conclusions: We present the first next-generation sequencing study on RLS and suggest PCDHA3 as a candidate gene for RLS.</div>
</front>
</TEI>
<affiliations><list><country><li>Allemagne</li>
<li>Turquie</li>
</country>
<region><li>Schleswig-Holstein</li>
</region>
<settlement><li>Kiel</li>
</settlement>
</list>
<tree><country name="Allemagne"><noRegion><name sortKey="Weissbach, Anne" sort="Weissbach, Anne" uniqKey="Weissbach A" first="Anne" last="Weissbach">Anne Weissbach</name>
</noRegion>
<name sortKey="Bruggemann, Norbert" sort="Bruggemann, Norbert" uniqKey="Bruggemann N" first="Norbert" last="Bruggemann">Norbert Bruggemann</name>
<name sortKey="Hagenah, Johann" sort="Hagenah, Johann" uniqKey="Hagenah J" first="Johann" last="Hagenah">Johann Hagenah</name>
<name sortKey="Kasten, Meike" sort="Kasten, Meike" uniqKey="Kasten M" first="Meike" last="Kasten">Meike Kasten</name>
<name sortKey="Kasten, Meike" sort="Kasten, Meike" uniqKey="Kasten M" first="Meike" last="Kasten">Meike Kasten</name>
<name sortKey="Klein, Christine" sort="Klein, Christine" uniqKey="Klein C" first="Christine" last="Klein">Christine Klein</name>
<name sortKey="Lohmann, Katja" sort="Lohmann, Katja" uniqKey="Lohmann K" first="Katja" last="Lohmann">Katja Lohmann</name>
<name sortKey="Lohnau, Thora" sort="Lohnau, Thora" uniqKey="Lohnau T" first="Thora" last="Lohnau">Thora Lohnau</name>
<name sortKey="Muhle, Hiltrud" sort="Muhle, Hiltrud" uniqKey="Muhle H" first="Hiltrud" last="Muhle">Hiltrud Muhle</name>
<name sortKey="Pichler, Irene" sort="Pichler, Irene" uniqKey="Pichler I" first="Irene" last="Pichler">Irene Pichler</name>
<name sortKey="Pramstaller, Peter P" sort="Pramstaller, Peter P" uniqKey="Pramstaller P" first="Peter P." last="Pramstaller">Peter P. Pramstaller</name>
<name sortKey="Schmidt, Alexander" sort="Schmidt, Alexander" uniqKey="Schmidt A" first="Alexander" last="Schmidt">Alexander Schmidt</name>
<name sortKey="Schwinger, Eberhard" sort="Schwinger, Eberhard" uniqKey="Schwinger E" first="Eberhard" last="Schwinger">Eberhard Schwinger</name>
<name sortKey="Siegesmund, Katharina" sort="Siegesmund, Katharina" uniqKey="Siegesmund K" first="Katharina" last="Siegesmund">Katharina Siegesmund</name>
<name sortKey="Stephani, Ulrich" sort="Stephani, Ulrich" uniqKey="Stephani U" first="Ulrich" last="Stephani">Ulrich Stephani</name>
</country>
<country name="Turquie"><noRegion><name sortKey="Lohmann, Ebba" sort="Lohmann, Ebba" uniqKey="Lohmann E" first="Ebba" last="Lohmann">Ebba Lohmann</name>
</noRegion>
</country>
</tree>
</affiliations>
</record>

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	Movement Disorders (revue)
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Movement Disorders (revue)

Exome Sequencing in a Family With Restless Legs Syndrome

Exome Sequencing in a Family With Restless Legs Syndrome

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