Guanosine Triphosphate Cyclohydrolase 1 Promoter Deletion Causes Dopa-Responsive Dystonia
Identifieur interne : 001105 ( Main/Exploration ); précédent : 001104; suivant : 001106Guanosine Triphosphate Cyclohydrolase 1 Promoter Deletion Causes Dopa-Responsive Dystonia
Auteurs : Jessie Theuns [Belgique] ; David Crosiers [Belgique] ; Luc Debaene [Belgique] ; Karen Nuytemans [Belgique] ; Bram Meeus [Belgique] ; Kristel Sleegers [Belgique] ; Dirk Goossens [Belgique] ; Ellen Corsmit [Belgique] ; Ellen Elinck [Belgique] ; Karin Peeters [Belgique] ; Maria Mattheijssens [Belgique] ; Barbara Pickut [Belgique] ; Jurgen Del-Favero [Belgique] ; Sebastiaan Engelborghs [Belgique] ; Peter Paul De Deyn [Belgique, Pays-Bas] ; Patrick Cras [Belgique] ; Christine Van Broeckhoven [Belgique]Source :
- Movement disorders [ 0885-3185 ] ; 2012.
Descripteurs français
- Pascal (Inist)
English descriptors
- KwdEn :
Abstract
Background: Autosomal dominant dopa-responsive dystonia (AD-DRD) is caused by a biochemical defect primarily resulting from guanosine triphosphate cyclohydrolase 1 gene (GCH1) mutations. Few families have been reported without mutations in GCH1. Methods: Genome-wide linkage analysis and positional cloning to identify the genetic defect in a Belgian AD-DRD family was carried out. Results and Conclusion: In this study, we report on the identification and characterization of a novel 24-kb deletion spanning exon 1 and the 5' regulatory region of GCH1 causing a wide spectrum of motor and nonmotor symptoms in a large Belgian AD-DRD family. This large-scale deletion of regulatory sequences leads to decreased GCH1 activity in all carriers, most probably resulting from allelic loss of transcription. We mapped the breakpoints of this deletion to the nucleotide level, allowing the development of a straightforward polymerase chain reaction assay for fast, efficient detection of this large deletion, which will prove valuable for preimplantation genetic diagnosis.
Affiliations:
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d'Anvers</region></placeName><orgName type="university">Université d'Anvers</orgName></affiliation><affiliation wicri:level="4"><inist:fA14 i1="02"><s1>Institute Born-Bunge, University of Antwerp</s1><s2>Antwerp</s2><s3>BEL</s3><sZ>1 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ><sZ>10 aut.</sZ><sZ>11 aut.</sZ><sZ>14 aut.</sZ><sZ>15 aut.</sZ><sZ>16 aut.</sZ><sZ>17 aut.</sZ></inist:fA14><country>Belgique</country><placeName><settlement type="city">Anvers</settlement><region type="district" nuts="2">Province d'Anvers</region></placeName><orgName type="university">Université d'Anvers</orgName></affiliation></author><author><name sortKey="Mattheijssens, Maria" sort="Mattheijssens, Maria" uniqKey="Mattheijssens M" first="Maria" last="Mattheijssens">Maria Mattheijssens</name><affiliation wicri:level="4"><inist:fA14 i1="01"><s1>Neurodegenerative Brain Diseases Group, VIB Department of Molecular Genetics, University of Antwerp</s1><s2>Antwerp</s2><s3>BEL</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ><sZ>10 aut.</sZ><sZ>11 aut.</sZ><sZ>17 aut.</sZ></inist:fA14><country>Belgique</country><placeName><settlement type="city">Anvers</settlement><region type="district" nuts="2">Province d'Anvers</region></placeName><orgName type="university">Université d'Anvers</orgName></affiliation><affiliation wicri:level="4"><inist:fA14 i1="02"><s1>Institute Born-Bunge, University of Antwerp</s1><s2>Antwerp</s2><s3>BEL</s3><sZ>1 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ><sZ>10 aut.</sZ><sZ>11 aut.</sZ><sZ>14 aut.</sZ><sZ>15 aut.</sZ><sZ>16 aut.</sZ><sZ>17 aut.</sZ></inist:fA14><country>Belgique</country><placeName><settlement type="city">Anvers</settlement><region type="district" nuts="2">Province d'Anvers</region></placeName><orgName type="university">Université d'Anvers</orgName></affiliation></author><author><name sortKey="Pickut, Barbara" sort="Pickut, Barbara" uniqKey="Pickut B" first="Barbara" last="Pickut">Barbara Pickut</name><affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Department of Neurology, Antwerp University Hospital</s1><s2>Edegem</s2><s3>BEL</s3><sZ>2 aut.</sZ><sZ>12 aut.</sZ><sZ>16 aut.</sZ></inist:fA14><country>Belgique</country><wicri:noRegion>Edegem</wicri:noRegion></affiliation></author><author><name sortKey="Del Favero, Jurgen" sort="Del Favero, Jurgen" uniqKey="Del Favero J" first="Jurgen" last="Del-Favero">Jurgen Del-Favero</name><affiliation wicri:level="4"><inist:fA14 i1="06"><s1>Applied Molecular Genomics Group, VIB Department of Molecular Genetics, University of Antwerp</s1><s2>Antwerp</s2><s3>BEL</s3><sZ>7 aut.</sZ><sZ>13 aut.</sZ></inist:fA14><country>Belgique</country><placeName><settlement type="city">Anvers</settlement><region type="district" nuts="2">Province d'Anvers</region></placeName><orgName type="university">Université d'Anvers</orgName></affiliation></author><author><name sortKey="Engelborghs, Sebastiaan" sort="Engelborghs, Sebastiaan" uniqKey="Engelborghs S" first="Sebastiaan" last="Engelborghs">Sebastiaan Engelborghs</name><affiliation wicri:level="4"><inist:fA14 i1="02"><s1>Institute Born-Bunge, University of Antwerp</s1><s2>Antwerp</s2><s3>BEL</s3><sZ>1 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ><sZ>10 aut.</sZ><sZ>11 aut.</sZ><sZ>14 aut.</sZ><sZ>15 aut.</sZ><sZ>16 aut.</sZ><sZ>17 aut.</sZ></inist:fA14><country>Belgique</country><placeName><settlement type="city">Anvers</settlement><region type="district" nuts="2">Province d'Anvers</region></placeName><orgName type="university">Université d'Anvers</orgName></affiliation><affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Department of Neurology and Memory Clinic, Hospital Network Antwerp, Middelheim Hospital and Hoge Beuken</s1><s2>Antwerp</s2><s3>BEL</s3><sZ>2 aut.</sZ><sZ>14 aut.</sZ><sZ>15 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Beuken</s1><s2>Antwerp</s2><s3>BEL</s3><sZ>2 aut.</sZ><sZ>14 aut.</sZ><sZ>15 aut.</sZ></inist:fA14><country>Belgique</country><wicri:noRegion>Antwerp</wicri:noRegion></affiliation><affiliation wicri:level="3"><inist:fA14 i1="07"><s1>Department of Neurology and Alzheimer Research Center, University Medical Center Groningen</s1><s2>Groningen</s2><s3>NLD</s3><sZ>15 aut.</sZ></inist:fA14><country>Pays-Bas</country><placeName><settlement type="city">Groningue</settlement><region nuts="2" type="province">Groningue (province)</region></placeName></affiliation></author><author><name sortKey="Cras, Patrick" sort="Cras, Patrick" uniqKey="Cras P" first="Patrick" last="Cras">Patrick Cras</name><affiliation wicri:level="4"><inist:fA14 i1="02"><s1>Institute Born-Bunge, University of Antwerp</s1><s2>Antwerp</s2><s3>BEL</s3><sZ>1 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ><sZ>10 aut.</sZ><sZ>11 aut.</sZ><sZ>14 aut.</sZ><sZ>15 aut.</sZ><sZ>16 aut.</sZ><sZ>17 aut.</sZ></inist:fA14><country>Belgique</country><placeName><settlement type="city">Anvers</settlement><region type="district" nuts="2">Province d'Anvers</region></placeName><orgName type="university">Université d'Anvers</orgName></affiliation><affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Department of Neurology, Antwerp University Hospital</s1><s2>Edegem</s2><s3>BEL</s3><sZ>2 aut.</sZ><sZ>12 aut.</sZ><sZ>16 aut.</sZ></inist:fA14><country>Belgique</country><wicri:noRegion>Edegem</wicri:noRegion></affiliation></author><author><name sortKey="Van Broeckhoven, Christine" sort="Van Broeckhoven, Christine" uniqKey="Van Broeckhoven C" first="Christine" last="Van Broeckhoven">Christine Van Broeckhoven</name><affiliation wicri:level="4"><inist:fA14 i1="01"><s1>Neurodegenerative Brain Diseases Group, VIB Department of Molecular Genetics, University of Antwerp</s1><s2>Antwerp</s2><s3>BEL</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ><sZ>10 aut.</sZ><sZ>11 aut.</sZ><sZ>17 aut.</sZ></inist:fA14><country>Belgique</country><placeName><settlement type="city">Anvers</settlement><region type="district" nuts="2">Province d'Anvers</region></placeName><orgName type="university">Université d'Anvers</orgName></affiliation><affiliation wicri:level="4"><inist:fA14 i1="02"><s1>Institute Born-Bunge, University of Antwerp</s1><s2>Antwerp</s2><s3>BEL</s3><sZ>1 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ><sZ>10 aut.</sZ><sZ>11 aut.</sZ><sZ>14 aut.</sZ><sZ>15 aut.</sZ><sZ>16 aut.</sZ><sZ>17 aut.</sZ></inist:fA14><country>Belgique</country><placeName><settlement type="city">Anvers</settlement><region type="district" nuts="2">Province d'Anvers</region></placeName><orgName type="university">Université d'Anvers</orgName></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">INIST</idno><idno type="inist">12-0393103</idno><date when="2012">2012</date><idno type="stanalyst">PASCAL 12-0393103 INIST</idno><idno type="RBID">Pascal:12-0393103</idno><idno type="wicri:Area/PascalFrancis/Corpus">000069</idno><idno type="wicri:Area/PascalFrancis/Curation">002C45</idno><idno type="wicri:Area/PascalFrancis/Checkpoint">000178</idno><idno type="wicri:doubleKey">0885-3185:2012:Theuns J:guanosine:triphosphate:cyclohydrolase</idno><idno type="wicri:Area/Main/Merge">001157</idno><idno type="wicri:Area/Main/Curation">001105</idno><idno type="wicri:Area/Main/Exploration">001105</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">Guanosine Triphosphate Cyclohydrolase 1 Promoter Deletion Causes Dopa-Responsive Dystonia</title><author><name sortKey="Theuns, Jessie" sort="Theuns, Jessie" uniqKey="Theuns J" first="Jessie" last="Theuns">Jessie Theuns</name><affiliation wicri:level="4"><inist:fA14 i1="01"><s1>Neurodegenerative Brain Diseases Group, VIB Department of Molecular Genetics, University of Antwerp</s1><s2>Antwerp</s2><s3>BEL</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ><sZ>10 aut.</sZ><sZ>11 aut.</sZ><sZ>17 aut.</sZ></inist:fA14><country>Belgique</country><placeName><settlement type="city">Anvers</settlement><region type="district" nuts="2">Province d'Anvers</region></placeName><orgName type="university">Université d'Anvers</orgName></affiliation><affiliation wicri:level="4"><inist:fA14 i1="02"><s1>Institute Born-Bunge, University of Antwerp</s1><s2>Antwerp</s2><s3>BEL</s3><sZ>1 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ><sZ>10 aut.</sZ><sZ>11 aut.</sZ><sZ>14 aut.</sZ><sZ>15 aut.</sZ><sZ>16 aut.</sZ><sZ>17 aut.</sZ></inist:fA14><country>Belgique</country><placeName><settlement type="city">Anvers</settlement><region type="district" nuts="2">Province d'Anvers</region></placeName><orgName type="university">Université d'Anvers</orgName></affiliation></author><author><name sortKey="Crosiers, David" sort="Crosiers, David" uniqKey="Crosiers D" first="David" last="Crosiers">David Crosiers</name><affiliation wicri:level="4"><inist:fA14 i1="01"><s1>Neurodegenerative Brain Diseases Group, VIB Department of Molecular Genetics, University of Antwerp</s1><s2>Antwerp</s2><s3>BEL</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ><sZ>10 aut.</sZ><sZ>11 aut.</sZ><sZ>17 aut.</sZ></inist:fA14><country>Belgique</country><placeName><settlement type="city">Anvers</settlement><region type="district" nuts="2">Province d'Anvers</region></placeName><orgName type="university">Université d'Anvers</orgName></affiliation><affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Department of Neurology and Memory Clinic, Hospital Network Antwerp, Middelheim Hospital and Hoge Beuken</s1><s2>Antwerp</s2><s3>BEL</s3><sZ>2 aut.</sZ><sZ>14 aut.</sZ><sZ>15 aut.</sZ></inist:fA14><country>Belgique</country><wicri:noRegion>Antwerp</wicri:noRegion></affiliation><affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Department of Neurology, Antwerp University Hospital</s1><s2>Edegem</s2><s3>BEL</s3><sZ>2 aut.</sZ><sZ>12 aut.</sZ><sZ>16 aut.</sZ></inist:fA14><country>Belgique</country><wicri:noRegion>Edegem</wicri:noRegion></affiliation></author><author><name sortKey="Debaene, Luc" sort="Debaene, Luc" uniqKey="Debaene L" first="Luc" last="Debaene">Luc Debaene</name><affiliation wicri:level="4"><inist:fA14 i1="05"><s1>Primary and Interdisciplinary Care, University of Antwerp</s1><s2>Antwerp</s2><s3>BEL</s3><sZ>3 aut.</sZ></inist:fA14><country>Belgique</country><placeName><settlement type="city">Anvers</settlement><region type="district" nuts="2">Province d'Anvers</region></placeName><orgName type="university">Université d'Anvers</orgName></affiliation></author><author><name sortKey="Nuytemans, Karen" sort="Nuytemans, Karen" uniqKey="Nuytemans K" first="Karen" last="Nuytemans">Karen Nuytemans</name><affiliation wicri:level="4"><inist:fA14 i1="01"><s1>Neurodegenerative Brain Diseases Group, VIB Department of Molecular Genetics, University of Antwerp</s1><s2>Antwerp</s2><s3>BEL</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ><sZ>10 aut.</sZ><sZ>11 aut.</sZ><sZ>17 aut.</sZ></inist:fA14><country>Belgique</country><placeName><settlement type="city">Anvers</settlement><region type="district" nuts="2">Province d'Anvers</region></placeName><orgName type="university">Université d'Anvers</orgName></affiliation><affiliation wicri:level="4"><inist:fA14 i1="02"><s1>Institute Born-Bunge, University of Antwerp</s1><s2>Antwerp</s2><s3>BEL</s3><sZ>1 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ><sZ>10 aut.</sZ><sZ>11 aut.</sZ><sZ>14 aut.</sZ><sZ>15 aut.</sZ><sZ>16 aut.</sZ><sZ>17 aut.</sZ></inist:fA14><country>Belgique</country><placeName><settlement type="city">Anvers</settlement><region type="district" nuts="2">Province d'Anvers</region></placeName><orgName type="university">Université d'Anvers</orgName></affiliation></author><author><name sortKey="Meeus, Bram" sort="Meeus, Bram" uniqKey="Meeus B" first="Bram" last="Meeus">Bram Meeus</name><affiliation wicri:level="4"><inist:fA14 i1="01"><s1>Neurodegenerative Brain Diseases Group, VIB Department of Molecular Genetics, University of Antwerp</s1><s2>Antwerp</s2><s3>BEL</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ><sZ>10 aut.</sZ><sZ>11 aut.</sZ><sZ>17 aut.</sZ></inist:fA14><country>Belgique</country><placeName><settlement type="city">Anvers</settlement><region type="district" nuts="2">Province d'Anvers</region></placeName><orgName type="university">Université d'Anvers</orgName></affiliation><affiliation wicri:level="4"><inist:fA14 i1="02"><s1>Institute Born-Bunge, University of Antwerp</s1><s2>Antwerp</s2><s3>BEL</s3><sZ>1 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ><sZ>10 aut.</sZ><sZ>11 aut.</sZ><sZ>14 aut.</sZ><sZ>15 aut.</sZ><sZ>16 aut.</sZ><sZ>17 aut.</sZ></inist:fA14><country>Belgique</country><placeName><settlement type="city">Anvers</settlement><region type="district" nuts="2">Province d'Anvers</region></placeName><orgName type="university">Université d'Anvers</orgName></affiliation></author><author><name sortKey="Sleegers, Kristel" sort="Sleegers, Kristel" uniqKey="Sleegers K" first="Kristel" last="Sleegers">Kristel Sleegers</name><affiliation wicri:level="4"><inist:fA14 i1="01"><s1>Neurodegenerative Brain Diseases Group, VIB Department of Molecular Genetics, University of Antwerp</s1><s2>Antwerp</s2><s3>BEL</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ><sZ>10 aut.</sZ><sZ>11 aut.</sZ><sZ>17 aut.</sZ></inist:fA14><country>Belgique</country><placeName><settlement type="city">Anvers</settlement><region type="district" nuts="2">Province d'Anvers</region></placeName><orgName type="university">Université d'Anvers</orgName></affiliation><affiliation wicri:level="4"><inist:fA14 i1="02"><s1>Institute Born-Bunge, University of Antwerp</s1><s2>Antwerp</s2><s3>BEL</s3><sZ>1 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ><sZ>10 aut.</sZ><sZ>11 aut.</sZ><sZ>14 aut.</sZ><sZ>15 aut.</sZ><sZ>16 aut.</sZ><sZ>17 aut.</sZ></inist:fA14><country>Belgique</country><placeName><settlement type="city">Anvers</settlement><region type="district" nuts="2">Province d'Anvers</region></placeName><orgName type="university">Université d'Anvers</orgName></affiliation></author><author><name sortKey="Goossens, Dirk" sort="Goossens, Dirk" uniqKey="Goossens D" first="Dirk" last="Goossens">Dirk Goossens</name><affiliation wicri:level="4"><inist:fA14 i1="06"><s1>Applied Molecular Genomics Group, VIB Department of Molecular Genetics, University of Antwerp</s1><s2>Antwerp</s2><s3>BEL</s3><sZ>7 aut.</sZ><sZ>13 aut.</sZ></inist:fA14><country>Belgique</country><placeName><settlement type="city">Anvers</settlement><region type="district" nuts="2">Province d'Anvers</region></placeName><orgName type="university">Université d'Anvers</orgName></affiliation></author><author><name sortKey="Corsmit, Ellen" sort="Corsmit, Ellen" uniqKey="Corsmit E" first="Ellen" last="Corsmit">Ellen Corsmit</name><affiliation wicri:level="4"><inist:fA14 i1="01"><s1>Neurodegenerative Brain Diseases Group, VIB Department of Molecular Genetics, University of Antwerp</s1><s2>Antwerp</s2><s3>BEL</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ><sZ>10 aut.</sZ><sZ>11 aut.</sZ><sZ>17 aut.</sZ></inist:fA14><country>Belgique</country><placeName><settlement type="city">Anvers</settlement><region type="district" nuts="2">Province d'Anvers</region></placeName><orgName type="university">Université d'Anvers</orgName></affiliation><affiliation wicri:level="4"><inist:fA14 i1="02"><s1>Institute Born-Bunge, University of Antwerp</s1><s2>Antwerp</s2><s3>BEL</s3><sZ>1 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ><sZ>10 aut.</sZ><sZ>11 aut.</sZ><sZ>14 aut.</sZ><sZ>15 aut.</sZ><sZ>16 aut.</sZ><sZ>17 aut.</sZ></inist:fA14><country>Belgique</country><placeName><settlement type="city">Anvers</settlement><region type="district" nuts="2">Province d'Anvers</region></placeName><orgName type="university">Université d'Anvers</orgName></affiliation></author><author><name sortKey="Elinck, Ellen" sort="Elinck, Ellen" uniqKey="Elinck E" first="Ellen" last="Elinck">Ellen Elinck</name><affiliation wicri:level="4"><inist:fA14 i1="01"><s1>Neurodegenerative Brain Diseases Group, VIB Department of Molecular Genetics, University of Antwerp</s1><s2>Antwerp</s2><s3>BEL</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ><sZ>10 aut.</sZ><sZ>11 aut.</sZ><sZ>17 aut.</sZ></inist:fA14><country>Belgique</country><placeName><settlement type="city">Anvers</settlement><region type="district" nuts="2">Province d'Anvers</region></placeName><orgName type="university">Université d'Anvers</orgName></affiliation><affiliation wicri:level="4"><inist:fA14 i1="02"><s1>Institute Born-Bunge, University of Antwerp</s1><s2>Antwerp</s2><s3>BEL</s3><sZ>1 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ><sZ>10 aut.</sZ><sZ>11 aut.</sZ><sZ>14 aut.</sZ><sZ>15 aut.</sZ><sZ>16 aut.</sZ><sZ>17 aut.</sZ></inist:fA14><country>Belgique</country><placeName><settlement type="city">Anvers</settlement><region type="district" nuts="2">Province d'Anvers</region></placeName><orgName type="university">Université d'Anvers</orgName></affiliation></author><author><name sortKey="Peeters, Karin" sort="Peeters, Karin" uniqKey="Peeters K" first="Karin" last="Peeters">Karin Peeters</name><affiliation wicri:level="4"><inist:fA14 i1="01"><s1>Neurodegenerative Brain Diseases Group, VIB Department of Molecular Genetics, University of Antwerp</s1><s2>Antwerp</s2><s3>BEL</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ><sZ>10 aut.</sZ><sZ>11 aut.</sZ><sZ>17 aut.</sZ></inist:fA14><country>Belgique</country><placeName><settlement type="city">Anvers</settlement><region type="district" nuts="2">Province d'Anvers</region></placeName><orgName type="university">Université d'Anvers</orgName></affiliation><affiliation wicri:level="4"><inist:fA14 i1="02"><s1>Institute Born-Bunge, University of Antwerp</s1><s2>Antwerp</s2><s3>BEL</s3><sZ>1 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ><sZ>10 aut.</sZ><sZ>11 aut.</sZ><sZ>14 aut.</sZ><sZ>15 aut.</sZ><sZ>16 aut.</sZ><sZ>17 aut.</sZ></inist:fA14><country>Belgique</country><placeName><settlement type="city">Anvers</settlement><region type="district" nuts="2">Province d'Anvers</region></placeName><orgName type="university">Université d'Anvers</orgName></affiliation></author><author><name sortKey="Mattheijssens, Maria" sort="Mattheijssens, Maria" uniqKey="Mattheijssens M" first="Maria" last="Mattheijssens">Maria Mattheijssens</name><affiliation wicri:level="4"><inist:fA14 i1="01"><s1>Neurodegenerative Brain Diseases Group, VIB Department of Molecular Genetics, University of Antwerp</s1><s2>Antwerp</s2><s3>BEL</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ><sZ>10 aut.</sZ><sZ>11 aut.</sZ><sZ>17 aut.</sZ></inist:fA14><country>Belgique</country><placeName><settlement type="city">Anvers</settlement><region type="district" nuts="2">Province d'Anvers</region></placeName><orgName type="university">Université d'Anvers</orgName></affiliation><affiliation wicri:level="4"><inist:fA14 i1="02"><s1>Institute Born-Bunge, University of Antwerp</s1><s2>Antwerp</s2><s3>BEL</s3><sZ>1 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ><sZ>10 aut.</sZ><sZ>11 aut.</sZ><sZ>14 aut.</sZ><sZ>15 aut.</sZ><sZ>16 aut.</sZ><sZ>17 aut.</sZ></inist:fA14><country>Belgique</country><placeName><settlement type="city">Anvers</settlement><region type="district" nuts="2">Province d'Anvers</region></placeName><orgName type="university">Université d'Anvers</orgName></affiliation></author><author><name sortKey="Pickut, Barbara" sort="Pickut, Barbara" uniqKey="Pickut B" first="Barbara" last="Pickut">Barbara Pickut</name><affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Department of Neurology, Antwerp University Hospital</s1><s2>Edegem</s2><s3>BEL</s3><sZ>2 aut.</sZ><sZ>12 aut.</sZ><sZ>16 aut.</sZ></inist:fA14><country>Belgique</country><wicri:noRegion>Edegem</wicri:noRegion></affiliation></author><author><name sortKey="Del Favero, Jurgen" sort="Del Favero, Jurgen" uniqKey="Del Favero J" first="Jurgen" last="Del-Favero">Jurgen Del-Favero</name><affiliation wicri:level="4"><inist:fA14 i1="06"><s1>Applied Molecular Genomics Group, VIB Department of Molecular Genetics, University of Antwerp</s1><s2>Antwerp</s2><s3>BEL</s3><sZ>7 aut.</sZ><sZ>13 aut.</sZ></inist:fA14><country>Belgique</country><placeName><settlement type="city">Anvers</settlement><region type="district" nuts="2">Province d'Anvers</region></placeName><orgName type="university">Université d'Anvers</orgName></affiliation></author><author><name sortKey="Engelborghs, Sebastiaan" sort="Engelborghs, Sebastiaan" uniqKey="Engelborghs S" first="Sebastiaan" last="Engelborghs">Sebastiaan Engelborghs</name><affiliation wicri:level="4"><inist:fA14 i1="02"><s1>Institute Born-Bunge, University of Antwerp</s1><s2>Antwerp</s2><s3>BEL</s3><sZ>1 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ><sZ>10 aut.</sZ><sZ>11 aut.</sZ><sZ>14 aut.</sZ><sZ>15 aut.</sZ><sZ>16 aut.</sZ><sZ>17 aut.</sZ></inist:fA14><country>Belgique</country><placeName><settlement type="city">Anvers</settlement><region type="district" nuts="2">Province d'Anvers</region></placeName><orgName type="university">Université d'Anvers</orgName></affiliation><affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Department of Neurology and Memory Clinic, Hospital Network Antwerp, Middelheim Hospital and Hoge Beuken</s1><s2>Antwerp</s2><s3>BEL</s3><sZ>2 aut.</sZ><sZ>14 aut.</sZ><sZ>15 aut.</sZ></inist:fA14><country>Belgique</country><wicri:noRegion>Antwerp</wicri:noRegion></affiliation></author><author><name sortKey="De Deyn, Peter Paul" sort="De Deyn, Peter Paul" uniqKey="De Deyn P" first="Peter Paul" last="De Deyn">Peter Paul De Deyn</name><affiliation wicri:level="4"><inist:fA14 i1="02"><s1>Institute Born-Bunge, University of Antwerp</s1><s2>Antwerp</s2><s3>BEL</s3><sZ>1 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ><sZ>10 aut.</sZ><sZ>11 aut.</sZ><sZ>14 aut.</sZ><sZ>15 aut.</sZ><sZ>16 aut.</sZ><sZ>17 aut.</sZ></inist:fA14><country>Belgique</country><placeName><settlement type="city">Anvers</settlement><region type="district" nuts="2">Province d'Anvers</region></placeName><orgName type="university">Université d'Anvers</orgName></affiliation><affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Department of Neurology and Memory Clinic, Hospital Network Antwerp, Middelheim Hospital and Hoge Beuken</s1><s2>Antwerp</s2><s3>BEL</s3><sZ>2 aut.</sZ><sZ>14 aut.</sZ><sZ>15 aut.</sZ></inist:fA14><country>Belgique</country><wicri:noRegion>Antwerp</wicri:noRegion></affiliation><affiliation wicri:level="3"><inist:fA14 i1="07"><s1>Department of Neurology and Alzheimer Research Center, University Medical Center Groningen</s1><s2>Groningen</s2><s3>NLD</s3><sZ>15 aut.</sZ></inist:fA14><country>Pays-Bas</country><placeName><settlement type="city">Groningue</settlement><region nuts="2" type="province">Groningue (province)</region></placeName></affiliation></author><author><name sortKey="Cras, Patrick" sort="Cras, Patrick" uniqKey="Cras P" first="Patrick" last="Cras">Patrick Cras</name><affiliation wicri:level="4"><inist:fA14 i1="02"><s1>Institute Born-Bunge, University of Antwerp</s1><s2>Antwerp</s2><s3>BEL</s3><sZ>1 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ><sZ>10 aut.</sZ><sZ>11 aut.</sZ><sZ>14 aut.</sZ><sZ>15 aut.</sZ><sZ>16 aut.</sZ><sZ>17 aut.</sZ></inist:fA14><country>Belgique</country><placeName><settlement type="city">Anvers</settlement><region type="district" nuts="2">Province d'Anvers</region></placeName><orgName type="university">Université d'Anvers</orgName></affiliation><affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Department of Neurology, Antwerp University Hospital</s1><s2>Edegem</s2><s3>BEL</s3><sZ>2 aut.</sZ><sZ>12 aut.</sZ><sZ>16 aut.</sZ></inist:fA14><country>Belgique</country><wicri:noRegion>Edegem</wicri:noRegion></affiliation></author><author><name sortKey="Van Broeckhoven, Christine" sort="Van Broeckhoven, Christine" uniqKey="Van Broeckhoven C" first="Christine" last="Van Broeckhoven">Christine Van Broeckhoven</name><affiliation wicri:level="4"><inist:fA14 i1="01"><s1>Neurodegenerative Brain Diseases Group, VIB Department of Molecular Genetics, University of Antwerp</s1><s2>Antwerp</s2><s3>BEL</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ><sZ>10 aut.</sZ><sZ>11 aut.</sZ><sZ>17 aut.</sZ></inist:fA14><country>Belgique</country><placeName><settlement type="city">Anvers</settlement><region type="district" nuts="2">Province d'Anvers</region></placeName><orgName type="university">Université d'Anvers</orgName></affiliation><affiliation wicri:level="4"><inist:fA14 i1="02"><s1>Institute Born-Bunge, University of Antwerp</s1><s2>Antwerp</s2><s3>BEL</s3><sZ>1 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ><sZ>10 aut.</sZ><sZ>11 aut.</sZ><sZ>14 aut.</sZ><sZ>15 aut.</sZ><sZ>16 aut.</sZ><sZ>17 aut.</sZ></inist:fA14><country>Belgique</country><placeName><settlement type="city">Anvers</settlement><region type="district" nuts="2">Province d'Anvers</region></placeName><orgName type="university">Université d'Anvers</orgName></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>Copy number</term><term>Deletion</term><term>Genetic linkage</term><term>Genome</term><term>Guanosine</term><term>Nervous system diseases</term><term>Segawa disease</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Délétion</term><term>Maladie de Segawa</term><term>Pathologie du système nerveux</term><term>Guanosine</term><term>Génome</term><term>Liaison génétique</term><term>Nombre copie</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Background: Autosomal dominant dopa-responsive dystonia (AD-DRD) is caused by a biochemical defect primarily resulting from guanosine triphosphate cyclohydrolase 1 gene (GCH1) mutations. Few families have been reported without mutations in GCH1. Methods: Genome-wide linkage analysis and positional cloning to identify the genetic defect in a Belgian AD-DRD family was carried out. Results and Conclusion: In this study, we report on the identification and characterization of a novel 24-kb deletion spanning exon 1 and the 5' regulatory region of GCH1 causing a wide spectrum of motor and nonmotor symptoms in a large Belgian AD-DRD family. This large-scale deletion of regulatory sequences leads to decreased GCH1 activity in all carriers, most probably resulting from allelic loss of transcription. We mapped the breakpoints of this deletion to the nucleotide level, allowing the development of a straightforward polymerase chain reaction assay for fast, efficient detection of this large deletion, which will prove valuable for preimplantation genetic diagnosis.</div></front></TEI><affiliations><list><country><li>Belgique</li><li>Pays-Bas</li></country><region><li>Groningue (province)</li><li>Province d'Anvers</li></region><settlement><li>Anvers</li><li>Groningue</li></settlement><orgName><li>Université d'Anvers</li></orgName></list><tree><country name="Belgique"><region name="Province d'Anvers"><name sortKey="Theuns, Jessie" sort="Theuns, Jessie" uniqKey="Theuns J" first="Jessie" last="Theuns">Jessie Theuns</name></region><name sortKey="Corsmit, Ellen" sort="Corsmit, Ellen" uniqKey="Corsmit E" first="Ellen" last="Corsmit">Ellen Corsmit</name><name sortKey="Corsmit, Ellen" sort="Corsmit, Ellen" uniqKey="Corsmit E" first="Ellen" last="Corsmit">Ellen Corsmit</name><name sortKey="Cras, Patrick" sort="Cras, Patrick" uniqKey="Cras P" first="Patrick" last="Cras">Patrick Cras</name><name sortKey="Cras, Patrick" sort="Cras, Patrick" uniqKey="Cras P" first="Patrick" last="Cras">Patrick Cras</name><name sortKey="Crosiers, David" sort="Crosiers, David" uniqKey="Crosiers D" first="David" last="Crosiers">David Crosiers</name><name sortKey="Crosiers, David" sort="Crosiers, David" uniqKey="Crosiers D" first="David" last="Crosiers">David Crosiers</name><name sortKey="Crosiers, David" sort="Crosiers, David" uniqKey="Crosiers D" first="David" last="Crosiers">David Crosiers</name><name sortKey="De Deyn, Peter Paul" sort="De Deyn, Peter Paul" uniqKey="De Deyn P" first="Peter Paul" last="De Deyn">Peter Paul De Deyn</name><name sortKey="De Deyn, Peter Paul" sort="De Deyn, Peter Paul" uniqKey="De Deyn P" first="Peter Paul" last="De Deyn">Peter Paul De Deyn</name><name sortKey="Debaene, Luc" sort="Debaene, Luc" uniqKey="Debaene L" first="Luc" last="Debaene">Luc Debaene</name><name sortKey="Del Favero, Jurgen" sort="Del Favero, Jurgen" uniqKey="Del Favero J" first="Jurgen" last="Del-Favero">Jurgen Del-Favero</name><name sortKey="Elinck, Ellen" sort="Elinck, Ellen" uniqKey="Elinck E" first="Ellen" last="Elinck">Ellen Elinck</name><name sortKey="Elinck, Ellen" sort="Elinck, Ellen" uniqKey="Elinck E" first="Ellen" last="Elinck">Ellen Elinck</name><name sortKey="Engelborghs, Sebastiaan" sort="Engelborghs, Sebastiaan" uniqKey="Engelborghs S" first="Sebastiaan" last="Engelborghs">Sebastiaan Engelborghs</name><name sortKey="Engelborghs, Sebastiaan" sort="Engelborghs, Sebastiaan" uniqKey="Engelborghs S" first="Sebastiaan" last="Engelborghs">Sebastiaan Engelborghs</name><name sortKey="Goossens, Dirk" sort="Goossens, Dirk" uniqKey="Goossens D" first="Dirk" last="Goossens">Dirk Goossens</name><name sortKey="Mattheijssens, Maria" sort="Mattheijssens, Maria" uniqKey="Mattheijssens M" first="Maria" last="Mattheijssens">Maria Mattheijssens</name><name sortKey="Mattheijssens, Maria" sort="Mattheijssens, Maria" uniqKey="Mattheijssens M" first="Maria" last="Mattheijssens">Maria Mattheijssens</name><name sortKey="Meeus, Bram" sort="Meeus, Bram" uniqKey="Meeus B" first="Bram" last="Meeus">Bram Meeus</name><name sortKey="Meeus, Bram" sort="Meeus, Bram" uniqKey="Meeus B" first="Bram" last="Meeus">Bram Meeus</name><name sortKey="Nuytemans, Karen" sort="Nuytemans, Karen" uniqKey="Nuytemans K" first="Karen" last="Nuytemans">Karen Nuytemans</name><name sortKey="Nuytemans, Karen" sort="Nuytemans, Karen" uniqKey="Nuytemans K" first="Karen" last="Nuytemans">Karen Nuytemans</name><name sortKey="Peeters, Karin" sort="Peeters, Karin" uniqKey="Peeters K" first="Karin" last="Peeters">Karin Peeters</name><name sortKey="Peeters, Karin" sort="Peeters, Karin" uniqKey="Peeters K" first="Karin" last="Peeters">Karin Peeters</name><name sortKey="Pickut, Barbara" sort="Pickut, Barbara" uniqKey="Pickut B" first="Barbara" last="Pickut">Barbara Pickut</name><name sortKey="Sleegers, Kristel" sort="Sleegers, Kristel" uniqKey="Sleegers K" first="Kristel" last="Sleegers">Kristel Sleegers</name><name sortKey="Sleegers, Kristel" sort="Sleegers, Kristel" uniqKey="Sleegers K" first="Kristel" last="Sleegers">Kristel Sleegers</name><name sortKey="Theuns, Jessie" sort="Theuns, Jessie" uniqKey="Theuns J" first="Jessie" last="Theuns">Jessie Theuns</name><name sortKey="Van Broeckhoven, Christine" sort="Van Broeckhoven, Christine" uniqKey="Van Broeckhoven C" first="Christine" last="Van Broeckhoven">Christine Van Broeckhoven</name><name sortKey="Van Broeckhoven, Christine" sort="Van Broeckhoven, Christine" uniqKey="Van Broeckhoven C" first="Christine" last="Van Broeckhoven">Christine Van Broeckhoven</name></country><country name="Pays-Bas"><region name="Groningue (province)"><name sortKey="De Deyn, Peter Paul" sort="De Deyn, Peter Paul" uniqKey="De Deyn P" first="Peter Paul" last="De Deyn">Peter Paul De Deyn</name></region></country></tree></affiliations></record>Pour manipuler 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