Cantú Syndrome Is Caused by Mutations in ABCC9
Identifieur interne : 000231 ( France/Analysis ); précédent : 000230; suivant : 000232Cantú Syndrome Is Caused by Mutations in ABCC9
Auteurs : Bregje W. M. Van Bon [Pays-Bas] ; Christian Gilissen [Pays-Bas] ; Dorothy K. Grange [États-Unis] ; Raoul C. M. Hennekam [Pays-Bas] ; Hülya Kayserili [Turquie] ; Hartmut Engels [Allemagne] ; Heiko Reutter [Allemagne] ; John R. Ostergaard [Danemark] ; Eva Morava [Pays-Bas] ; Konstantinos Tsiakas [Allemagne] ; Bertrand Isidor [France] ; Martine Le Merrer [France] ; Metin Eser [Turquie] ; Nienke Wieskamp [Pays-Bas] ; Petra De Vries [Pays-Bas] ; Marloes Steehouwer [Pays-Bas] ; Joris A. Veltman [Pays-Bas] ; Stephen P. Robertson [Nouvelle-Zélande] ; Han G. Brunner [Pays-Bas] ; Bert B. A. De Vries [Pays-Bas] ; Alexander Hoischen [Pays-Bas, Norvège]Source :
- American Journal of Human Genetics [ 0002-9297 ] ; 2012.
Abstract
Cantú syndrome is a rare disorder characterized by congenital hypertrichosis, neonatal macrosomia, a distinct osteochondrodysplasia, and cardiomegaly. Using an exome-sequencing approach applied to one proband-parent trio and three unrelated single cases, we identified heterozygous mutations in
Url:
DOI: 10.1016/j.ajhg.2012.04.014
PubMed: 22608503
PubMed Central: 3370286
Affiliations:
- Allemagne, Danemark, France, Norvège, Nouvelle-Zélande, Pays-Bas, Turquie, États-Unis
- District de Cologne, Gueldre, Hambourg, Hollande-Septentrionale, Missouri (État), Rhénanie-du-Nord-Westphalie, Île-de-France
- Amsterdam, Bonn, Hambourg, Nimègue, Paris, Saint-Louis (Missouri)
- Université Paris-Descartes, Université d'Amsterdam, École de médecine (Université Washington de Saint-Louis)
Links toward previous steps (curation, corpus...)
- to stream Pmc, to step Corpus: 001E54
- to stream Pmc, to step Curation: 001E53
- to stream Pmc, to step Checkpoint: 002B27
- to stream Ncbi, to step Merge: 004D85
- to stream Ncbi, to step Curation: 004D85
- to stream Ncbi, to step Checkpoint: 004D85
- to stream Main, to step Merge: 004490
- to stream Main, to step Curation: 004469
- to stream Main, to step Exploration: 004469
- to stream France, to step Extraction: 000231
Links to Exploration step
PMC:3370286Le document en format XML
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Van Bon</name><affiliation wicri:level="1"><nlm:aff id="aff1">Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences and Institute for Genetic and Metabolic Disorders, Radboud University Nijmegen Medical Centre, 6500HB Nijmegen, The Netherlands</nlm:aff><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences and Institute for Genetic and Metabolic Disorders, Radboud University Nijmegen Medical Centre, 6500HB Nijmegen</wicri:regionArea><placeName><settlement type="city">Nimègue</settlement><region type="province" nuts="2">Gueldre</region></placeName></affiliation></author><author><name sortKey="Gilissen, Christian" sort="Gilissen, Christian" uniqKey="Gilissen C" first="Christian" last="Gilissen">Christian Gilissen</name><affiliation wicri:level="1"><nlm:aff id="aff1">Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences and Institute for Genetic and Metabolic Disorders, Radboud University Nijmegen Medical Centre, 6500HB Nijmegen, The Netherlands</nlm:aff><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences and Institute for Genetic and Metabolic Disorders, Radboud University Nijmegen Medical Centre, 6500HB Nijmegen</wicri:regionArea><placeName><settlement type="city">Nimègue</settlement><region type="province" nuts="2">Gueldre</region></placeName></affiliation></author><author><name sortKey="Grange, Dorothy K" sort="Grange, Dorothy K" uniqKey="Grange D" first="Dorothy K." last="Grange">Dorothy K. Grange</name><affiliation wicri:level="4"><nlm:aff id="aff2">Department of Pediatrics, Division of Genetics and Genomic Medicine, Washington University School of Medicine, St. Louis, MO 63110, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Pediatrics, Division of Genetics and Genomic Medicine, Washington University School of Medicine, St. Louis, MO 63110</wicri:regionArea><orgName type="university">École de médecine (Université Washington de Saint-Louis)</orgName><placeName><settlement type="city">Saint-Louis (Missouri)</settlement><region type="state">Missouri (État)</region></placeName></affiliation></author><author><name sortKey="Hennekam, Raoul C M" sort="Hennekam, Raoul C M" uniqKey="Hennekam R" first="Raoul C. M." last="Hennekam">Raoul C. M. Hennekam</name><affiliation wicri:level="4"><nlm:aff id="aff3">Department of Paediatrics and Translational Genetics, Academic Medical Center, University of Amsterdam, 1105AZ Amsterdam, The Netherlands</nlm:aff><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Department of Paediatrics and Translational Genetics, Academic Medical Center, University of Amsterdam, 1105AZ Amsterdam</wicri:regionArea><placeName><settlement type="city">Amsterdam</settlement><region nuts="2" type="province">Hollande-Septentrionale</region><settlement type="city">Amsterdam</settlement></placeName><orgName type="university">Université d'Amsterdam</orgName></affiliation></author><author><name sortKey="Kayserili, Hulya" sort="Kayserili, Hulya" uniqKey="Kayserili H" first="Hülya" last="Kayserili">Hülya Kayserili</name><affiliation wicri:level="1"><nlm:aff id="aff4">Medical Genetics Department, İstanbul Medical Faculty, İstanbul University, Istanbul 34093, Turkey</nlm:aff><country xml:lang="fr">Turquie</country><wicri:regionArea>Medical Genetics Department, İstanbul Medical Faculty, İstanbul University, Istanbul 34093</wicri:regionArea><wicri:noRegion>Istanbul 34093</wicri:noRegion></affiliation></author><author><name sortKey="Engels, Hartmut" sort="Engels, Hartmut" uniqKey="Engels H" first="Hartmut" last="Engels">Hartmut Engels</name><affiliation wicri:level="3"><nlm:aff id="aff5">Institute of Human Genetics, University of Bonn, 53127 Bonn, Germany</nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea>Institute of Human Genetics, University of Bonn, 53127 Bonn</wicri:regionArea><placeName><region type="land" nuts="1">Rhénanie-du-Nord-Westphalie</region><region type="district" nuts="2">District de Cologne</region><settlement type="city">Bonn</settlement></placeName></affiliation></author><author><name sortKey="Reutter, Heiko" sort="Reutter, Heiko" uniqKey="Reutter H" first="Heiko" last="Reutter">Heiko Reutter</name><affiliation wicri:level="3"><nlm:aff id="aff5">Institute of Human Genetics, University of Bonn, 53127 Bonn, Germany</nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea>Institute of Human Genetics, University of Bonn, 53127 Bonn</wicri:regionArea><placeName><region type="land" nuts="1">Rhénanie-du-Nord-Westphalie</region><region type="district" nuts="2">District de Cologne</region><settlement type="city">Bonn</settlement></placeName></affiliation><affiliation wicri:level="3"><nlm:aff id="aff6">Department of Neonatology, Children's Hospital, University of Bonn, 53127 Bonn, Germany</nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Neonatology, Children's Hospital, University of Bonn, 53127 Bonn</wicri:regionArea><placeName><region type="land" nuts="1">Rhénanie-du-Nord-Westphalie</region><region type="district" nuts="2">District de Cologne</region><settlement type="city">Bonn</settlement></placeName></affiliation></author><author><name sortKey="Ostergaard, John R" sort="Ostergaard, John R" uniqKey="Ostergaard J" first="John R." last="Ostergaard">John R. Ostergaard</name><affiliation wicri:level="1"><nlm:aff id="aff7">Centre for Rare Diseases, Department of Pediatrics, Aarhus University Hospital Skejby, 8200 Aarhus N, Denmark</nlm:aff><country xml:lang="fr">Danemark</country><wicri:regionArea>Centre for Rare Diseases, Department of Pediatrics, Aarhus University Hospital Skejby, 8200 Aarhus N</wicri:regionArea><wicri:noRegion>8200 Aarhus N</wicri:noRegion></affiliation></author><author><name sortKey="Morava, Eva" sort="Morava, Eva" uniqKey="Morava E" first="Eva" last="Morava">Eva Morava</name><affiliation wicri:level="1"><nlm:aff id="aff8">Department of Pediatrics and Institute for Genetic and Metabolic Disease, Radboud University Nijmegen Medical Centre, Radboud University Nijmegen Medical Centre, 6500HB Nijmegen, The Netherlands</nlm:aff><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Department of Pediatrics and Institute for Genetic and Metabolic Disease, Radboud University Nijmegen Medical Centre, Radboud University Nijmegen Medical Centre, 6500HB Nijmegen</wicri:regionArea><placeName><settlement type="city">Nimègue</settlement><region type="province" nuts="2">Gueldre</region></placeName></affiliation></author><author><name sortKey="Tsiakas, Konstantinos" sort="Tsiakas, Konstantinos" uniqKey="Tsiakas K" first="Konstantinos" last="Tsiakas">Konstantinos Tsiakas</name><affiliation wicri:level="1"><nlm:aff id="aff9">Department of Pediatrics, University Medical Center Eppendorf, 20246 Hamburg, Germany</nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Pediatrics, University Medical Center Eppendorf, 20246 Hamburg</wicri:regionArea><wicri:noRegion>20246 Hamburg</wicri:noRegion><placeName><settlement type="city">Hambourg</settlement><region type="land" nuts="2">Hambourg</region></placeName></affiliation></author><author><name sortKey="Isidor, Bertrand" sort="Isidor, Bertrand" uniqKey="Isidor B" first="Bertrand" last="Isidor">Bertrand Isidor</name><affiliation wicri:level="1"><nlm:aff id="aff10">Clinical Genetics Unit, University Hospital Nantes, Nantes 44093, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Clinical Genetics Unit, University Hospital Nantes, Nantes 44093</wicri:regionArea><wicri:noRegion>44093</wicri:noRegion><wicri:noRegion>44093</wicri:noRegion></affiliation></author><author><name sortKey="Le Merrer, Martine" sort="Le Merrer, Martine" uniqKey="Le Merrer M" first="Martine" last="Le Merrer">Martine Le Merrer</name><affiliation wicri:level="4"><nlm:aff id="aff11">Département de Génétique, Université Paris Descartes, Hôpital Necker—Enfants Malades, Paris 75015, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Département de Génétique, Université Paris Descartes, Hôpital Necker—Enfants Malades, Paris 75015</wicri:regionArea><wicri:noRegion>75015</wicri:noRegion><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region><settlement type="city">Paris</settlement></placeName><orgName type="university">Université Paris-Descartes</orgName></affiliation></author><author><name sortKey="Eser, Metin" sort="Eser, Metin" uniqKey="Eser M" first="Metin" last="Eser">Metin Eser</name><affiliation wicri:level="1"><nlm:aff id="aff4">Medical Genetics Department, İstanbul Medical Faculty, İstanbul University, Istanbul 34093, Turkey</nlm:aff><country xml:lang="fr">Turquie</country><wicri:regionArea>Medical Genetics Department, İstanbul Medical Faculty, İstanbul University, Istanbul 34093</wicri:regionArea><wicri:noRegion>Istanbul 34093</wicri:noRegion></affiliation></author><author><name sortKey="Wieskamp, Nienke" sort="Wieskamp, Nienke" uniqKey="Wieskamp N" first="Nienke" last="Wieskamp">Nienke Wieskamp</name><affiliation wicri:level="1"><nlm:aff id="aff1">Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences and Institute for Genetic and Metabolic Disorders, Radboud University Nijmegen Medical Centre, 6500HB Nijmegen, The Netherlands</nlm:aff><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences and Institute for Genetic and Metabolic Disorders, Radboud University Nijmegen Medical Centre, 6500HB Nijmegen</wicri:regionArea><placeName><settlement type="city">Nimègue</settlement><region type="province" nuts="2">Gueldre</region></placeName></affiliation></author><author><name sortKey="De Vries, Petra" sort="De Vries, Petra" uniqKey="De Vries P" first="Petra" last="De Vries">Petra De Vries</name><affiliation wicri:level="1"><nlm:aff id="aff1">Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences and Institute for Genetic and Metabolic Disorders, Radboud University Nijmegen Medical Centre, 6500HB Nijmegen, The Netherlands</nlm:aff><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences and Institute for Genetic and Metabolic Disorders, Radboud University Nijmegen Medical Centre, 6500HB Nijmegen</wicri:regionArea><placeName><settlement type="city">Nimègue</settlement><region type="province" nuts="2">Gueldre</region></placeName></affiliation></author><author><name sortKey="Steehouwer, Marloes" sort="Steehouwer, Marloes" uniqKey="Steehouwer M" first="Marloes" last="Steehouwer">Marloes Steehouwer</name><affiliation wicri:level="1"><nlm:aff id="aff1">Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences and Institute for Genetic and Metabolic Disorders, Radboud University Nijmegen Medical Centre, 6500HB Nijmegen, The Netherlands</nlm:aff><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences and Institute for Genetic and Metabolic Disorders, Radboud University Nijmegen Medical Centre, 6500HB Nijmegen</wicri:regionArea><placeName><settlement type="city">Nimègue</settlement><region type="province" nuts="2">Gueldre</region></placeName></affiliation></author><author><name sortKey="Veltman, Joris A" sort="Veltman, Joris A" uniqKey="Veltman J" first="Joris A." last="Veltman">Joris A. Veltman</name><affiliation wicri:level="1"><nlm:aff id="aff1">Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences and Institute for Genetic and Metabolic Disorders, Radboud University Nijmegen Medical Centre, 6500HB Nijmegen, The Netherlands</nlm:aff><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences and Institute for Genetic and Metabolic Disorders, Radboud University Nijmegen Medical Centre, 6500HB Nijmegen</wicri:regionArea><placeName><settlement type="city">Nimègue</settlement><region type="province" nuts="2">Gueldre</region></placeName></affiliation></author><author><name sortKey="Robertson, Stephen P" sort="Robertson, Stephen P" uniqKey="Robertson S" first="Stephen P." last="Robertson">Stephen P. Robertson</name><affiliation wicri:level="1"><nlm:aff id="aff12">Department of Paediatrics and Child Health, Dunedin School of Medicine, University of Otago, Dunedin 9054, New Zealand</nlm:aff><country xml:lang="fr">Nouvelle-Zélande</country><wicri:regionArea>Department of Paediatrics and Child Health, Dunedin School of Medicine, University of Otago, Dunedin 9054</wicri:regionArea><wicri:noRegion>Dunedin 9054</wicri:noRegion></affiliation></author><author><name sortKey="Brunner, Han G" sort="Brunner, Han G" uniqKey="Brunner H" first="Han G." last="Brunner">Han G. Brunner</name><affiliation wicri:level="1"><nlm:aff id="aff1">Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences and Institute for Genetic and Metabolic Disorders, Radboud University Nijmegen Medical Centre, 6500HB Nijmegen, The Netherlands</nlm:aff><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences and Institute for Genetic and Metabolic Disorders, Radboud University Nijmegen Medical Centre, 6500HB Nijmegen</wicri:regionArea><placeName><settlement type="city">Nimègue</settlement><region type="province" nuts="2">Gueldre</region></placeName></affiliation></author><author><name sortKey="De Vries, Bert B A" sort="De Vries, Bert B A" uniqKey="De Vries B" first="Bert B. A." last="De Vries">Bert B. A. De Vries</name><affiliation wicri:level="1"><nlm:aff id="aff1">Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences and Institute for Genetic and Metabolic Disorders, Radboud University Nijmegen Medical Centre, 6500HB Nijmegen, The Netherlands</nlm:aff><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences and Institute for Genetic and Metabolic Disorders, Radboud University Nijmegen Medical Centre, 6500HB Nijmegen</wicri:regionArea><placeName><settlement type="city">Nimègue</settlement><region type="province" nuts="2">Gueldre</region></placeName></affiliation></author><author><name sortKey="Hoischen, Alexander" sort="Hoischen, Alexander" uniqKey="Hoischen A" first="Alexander" last="Hoischen">Alexander Hoischen</name><affiliation wicri:level="1"><nlm:aff id="aff1">Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences and Institute for Genetic and Metabolic Disorders, Radboud University Nijmegen Medical Centre, 6500HB Nijmegen, The Netherlands</nlm:aff><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences and Institute for Genetic and Metabolic Disorders, Radboud University Nijmegen Medical Centre, 6500HB Nijmegen</wicri:regionArea><placeName><settlement type="city">Nimègue</settlement><region type="province" nuts="2">Gueldre</region></placeName></affiliation><affiliation wicri:level="1"><nlm:aff id="aff13">Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital, 5021 Bergen, Norway</nlm:aff><country xml:lang="fr">Norvège</country><wicri:regionArea>Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital, 5021 Bergen</wicri:regionArea><wicri:noRegion>5021 Bergen</wicri:noRegion></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">22608503</idno><idno type="pmc">3370286</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3370286</idno><idno type="RBID">PMC:3370286</idno><idno type="doi">10.1016/j.ajhg.2012.04.014</idno><date when="2012">2012</date><idno type="wicri:Area/Pmc/Corpus">001E54</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">001E54</idno><idno type="wicri:Area/Pmc/Curation">001E53</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Curation">001E53</idno><idno type="wicri:Area/Pmc/Checkpoint">002B27</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Checkpoint">002B27</idno><idno type="wicri:Area/Ncbi/Merge">004D85</idno><idno type="wicri:Area/Ncbi/Curation">004D85</idno><idno type="wicri:Area/Ncbi/Checkpoint">004D85</idno><idno type="wicri:doubleKey">0002-9297:2012:Van Bon B:cantu:syndrome:is</idno><idno type="wicri:Area/Main/Merge">004490</idno><idno type="wicri:Area/Main/Curation">004469</idno><idno type="wicri:Area/Main/Exploration">004469</idno><idno type="wicri:Area/France/Extraction">000231</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Cantú Syndrome Is Caused by Mutations in <italic>ABCC9</italic></title><author><name sortKey="Van Bon, Bregje W M" sort="Van Bon, Bregje W M" uniqKey="Van Bon B" first="Bregje W. M." last="Van Bon">Bregje W. M. Van Bon</name><affiliation wicri:level="1"><nlm:aff id="aff1">Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences and Institute for Genetic and Metabolic Disorders, Radboud University Nijmegen Medical Centre, 6500HB Nijmegen, The Netherlands</nlm:aff><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences and Institute for Genetic and Metabolic Disorders, Radboud University Nijmegen Medical Centre, 6500HB Nijmegen</wicri:regionArea><placeName><settlement type="city">Nimègue</settlement><region type="province" nuts="2">Gueldre</region></placeName></affiliation></author><author><name sortKey="Gilissen, Christian" sort="Gilissen, Christian" uniqKey="Gilissen C" first="Christian" last="Gilissen">Christian Gilissen</name><affiliation wicri:level="1"><nlm:aff id="aff1">Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences and Institute for Genetic and Metabolic Disorders, Radboud University Nijmegen Medical Centre, 6500HB Nijmegen, The Netherlands</nlm:aff><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences and Institute for Genetic and Metabolic Disorders, Radboud University Nijmegen Medical Centre, 6500HB Nijmegen</wicri:regionArea><placeName><settlement type="city">Nimègue</settlement><region type="province" nuts="2">Gueldre</region></placeName></affiliation></author><author><name sortKey="Grange, Dorothy K" sort="Grange, Dorothy K" uniqKey="Grange D" first="Dorothy K." last="Grange">Dorothy K. Grange</name><affiliation wicri:level="4"><nlm:aff id="aff2">Department of Pediatrics, Division of Genetics and Genomic Medicine, Washington University School of Medicine, St. Louis, MO 63110, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Pediatrics, Division of Genetics and Genomic Medicine, Washington University School of Medicine, St. Louis, MO 63110</wicri:regionArea><orgName type="university">École de médecine (Université Washington de Saint-Louis)</orgName><placeName><settlement type="city">Saint-Louis (Missouri)</settlement><region type="state">Missouri (État)</region></placeName></affiliation></author><author><name sortKey="Hennekam, Raoul C M" sort="Hennekam, Raoul C M" uniqKey="Hennekam R" first="Raoul C. M." last="Hennekam">Raoul C. M. Hennekam</name><affiliation wicri:level="4"><nlm:aff id="aff3">Department of Paediatrics and Translational Genetics, Academic Medical Center, University of Amsterdam, 1105AZ Amsterdam, The Netherlands</nlm:aff><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Department of Paediatrics and Translational Genetics, Academic Medical Center, University of Amsterdam, 1105AZ Amsterdam</wicri:regionArea><placeName><settlement type="city">Amsterdam</settlement><region nuts="2" type="province">Hollande-Septentrionale</region><settlement type="city">Amsterdam</settlement></placeName><orgName type="university">Université d'Amsterdam</orgName></affiliation></author><author><name sortKey="Kayserili, Hulya" sort="Kayserili, Hulya" uniqKey="Kayserili H" first="Hülya" last="Kayserili">Hülya Kayserili</name><affiliation wicri:level="1"><nlm:aff id="aff4">Medical Genetics Department, İstanbul Medical Faculty, İstanbul University, Istanbul 34093, Turkey</nlm:aff><country xml:lang="fr">Turquie</country><wicri:regionArea>Medical Genetics Department, İstanbul Medical Faculty, İstanbul University, Istanbul 34093</wicri:regionArea><wicri:noRegion>Istanbul 34093</wicri:noRegion></affiliation></author><author><name sortKey="Engels, Hartmut" sort="Engels, Hartmut" uniqKey="Engels H" first="Hartmut" last="Engels">Hartmut Engels</name><affiliation wicri:level="3"><nlm:aff id="aff5">Institute of Human Genetics, University of Bonn, 53127 Bonn, Germany</nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea>Institute of Human Genetics, University of Bonn, 53127 Bonn</wicri:regionArea><placeName><region type="land" nuts="1">Rhénanie-du-Nord-Westphalie</region><region type="district" nuts="2">District de Cologne</region><settlement type="city">Bonn</settlement></placeName></affiliation></author><author><name sortKey="Reutter, Heiko" sort="Reutter, Heiko" uniqKey="Reutter H" first="Heiko" last="Reutter">Heiko Reutter</name><affiliation wicri:level="3"><nlm:aff id="aff5">Institute of Human Genetics, University of Bonn, 53127 Bonn, Germany</nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea>Institute of Human Genetics, University of Bonn, 53127 Bonn</wicri:regionArea><placeName><region type="land" nuts="1">Rhénanie-du-Nord-Westphalie</region><region type="district" nuts="2">District de Cologne</region><settlement type="city">Bonn</settlement></placeName></affiliation><affiliation wicri:level="3"><nlm:aff id="aff6">Department of Neonatology, Children's Hospital, University of Bonn, 53127 Bonn, Germany</nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Neonatology, Children's Hospital, University of Bonn, 53127 Bonn</wicri:regionArea><placeName><region type="land" nuts="1">Rhénanie-du-Nord-Westphalie</region><region type="district" nuts="2">District de Cologne</region><settlement type="city">Bonn</settlement></placeName></affiliation></author><author><name sortKey="Ostergaard, John R" sort="Ostergaard, John R" uniqKey="Ostergaard J" first="John R." last="Ostergaard">John R. Ostergaard</name><affiliation wicri:level="1"><nlm:aff id="aff7">Centre for Rare Diseases, Department of Pediatrics, Aarhus University Hospital Skejby, 8200 Aarhus N, Denmark</nlm:aff><country xml:lang="fr">Danemark</country><wicri:regionArea>Centre for Rare Diseases, Department of Pediatrics, Aarhus University Hospital Skejby, 8200 Aarhus N</wicri:regionArea><wicri:noRegion>8200 Aarhus N</wicri:noRegion></affiliation></author><author><name sortKey="Morava, Eva" sort="Morava, Eva" uniqKey="Morava E" first="Eva" last="Morava">Eva Morava</name><affiliation wicri:level="1"><nlm:aff id="aff8">Department of Pediatrics and Institute for Genetic and Metabolic Disease, Radboud University Nijmegen Medical Centre, Radboud University Nijmegen Medical Centre, 6500HB Nijmegen, The Netherlands</nlm:aff><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Department of Pediatrics and Institute for Genetic and Metabolic Disease, Radboud University Nijmegen Medical Centre, Radboud University Nijmegen Medical Centre, 6500HB Nijmegen</wicri:regionArea><placeName><settlement type="city">Nimègue</settlement><region type="province" nuts="2">Gueldre</region></placeName></affiliation></author><author><name sortKey="Tsiakas, Konstantinos" sort="Tsiakas, Konstantinos" uniqKey="Tsiakas K" first="Konstantinos" last="Tsiakas">Konstantinos Tsiakas</name><affiliation wicri:level="1"><nlm:aff id="aff9">Department of Pediatrics, University Medical Center Eppendorf, 20246 Hamburg, Germany</nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Pediatrics, University Medical Center Eppendorf, 20246 Hamburg</wicri:regionArea><wicri:noRegion>20246 Hamburg</wicri:noRegion><placeName><settlement type="city">Hambourg</settlement><region type="land" nuts="2">Hambourg</region></placeName></affiliation></author><author><name sortKey="Isidor, Bertrand" sort="Isidor, Bertrand" uniqKey="Isidor B" first="Bertrand" last="Isidor">Bertrand Isidor</name><affiliation wicri:level="1"><nlm:aff id="aff10">Clinical Genetics Unit, University Hospital Nantes, Nantes 44093, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Clinical Genetics Unit, University Hospital Nantes, Nantes 44093</wicri:regionArea><wicri:noRegion>44093</wicri:noRegion><wicri:noRegion>44093</wicri:noRegion></affiliation></author><author><name sortKey="Le Merrer, Martine" sort="Le Merrer, Martine" uniqKey="Le Merrer M" first="Martine" last="Le Merrer">Martine Le Merrer</name><affiliation wicri:level="4"><nlm:aff id="aff11">Département de Génétique, Université Paris Descartes, Hôpital Necker—Enfants Malades, Paris 75015, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Département de Génétique, Université Paris Descartes, Hôpital Necker—Enfants Malades, Paris 75015</wicri:regionArea><wicri:noRegion>75015</wicri:noRegion><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region><settlement type="city">Paris</settlement></placeName><orgName type="university">Université Paris-Descartes</orgName></affiliation></author><author><name sortKey="Eser, Metin" sort="Eser, Metin" uniqKey="Eser M" first="Metin" last="Eser">Metin Eser</name><affiliation wicri:level="1"><nlm:aff id="aff4">Medical Genetics Department, İstanbul Medical Faculty, İstanbul University, Istanbul 34093, Turkey</nlm:aff><country xml:lang="fr">Turquie</country><wicri:regionArea>Medical Genetics Department, İstanbul Medical Faculty, İstanbul University, Istanbul 34093</wicri:regionArea><wicri:noRegion>Istanbul 34093</wicri:noRegion></affiliation></author><author><name sortKey="Wieskamp, Nienke" sort="Wieskamp, Nienke" uniqKey="Wieskamp N" first="Nienke" last="Wieskamp">Nienke Wieskamp</name><affiliation wicri:level="1"><nlm:aff id="aff1">Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences and Institute for Genetic and Metabolic Disorders, Radboud University Nijmegen Medical Centre, 6500HB Nijmegen, The Netherlands</nlm:aff><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences and Institute for Genetic and Metabolic Disorders, Radboud University Nijmegen Medical Centre, 6500HB Nijmegen</wicri:regionArea><placeName><settlement type="city">Nimègue</settlement><region type="province" nuts="2">Gueldre</region></placeName></affiliation></author><author><name sortKey="De Vries, Petra" sort="De Vries, Petra" uniqKey="De Vries P" first="Petra" last="De Vries">Petra De Vries</name><affiliation wicri:level="1"><nlm:aff id="aff1">Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences and Institute for Genetic and Metabolic Disorders, Radboud University Nijmegen Medical Centre, 6500HB Nijmegen, The Netherlands</nlm:aff><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences and Institute for Genetic and Metabolic Disorders, Radboud University Nijmegen Medical Centre, 6500HB Nijmegen</wicri:regionArea><placeName><settlement type="city">Nimègue</settlement><region type="province" nuts="2">Gueldre</region></placeName></affiliation></author><author><name sortKey="Steehouwer, Marloes" sort="Steehouwer, Marloes" uniqKey="Steehouwer M" first="Marloes" last="Steehouwer">Marloes Steehouwer</name><affiliation wicri:level="1"><nlm:aff id="aff1">Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences and Institute for Genetic and Metabolic Disorders, Radboud University Nijmegen Medical Centre, 6500HB Nijmegen, The Netherlands</nlm:aff><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences and Institute for Genetic and Metabolic Disorders, Radboud University Nijmegen Medical Centre, 6500HB Nijmegen</wicri:regionArea><placeName><settlement type="city">Nimègue</settlement><region type="province" nuts="2">Gueldre</region></placeName></affiliation></author><author><name sortKey="Veltman, Joris A" sort="Veltman, Joris A" uniqKey="Veltman J" first="Joris A." last="Veltman">Joris A. Veltman</name><affiliation wicri:level="1"><nlm:aff id="aff1">Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences and Institute for Genetic and Metabolic Disorders, Radboud University Nijmegen Medical Centre, 6500HB Nijmegen, The Netherlands</nlm:aff><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences and Institute for Genetic and Metabolic Disorders, Radboud University Nijmegen Medical Centre, 6500HB Nijmegen</wicri:regionArea><placeName><settlement type="city">Nimègue</settlement><region type="province" nuts="2">Gueldre</region></placeName></affiliation></author><author><name sortKey="Robertson, Stephen P" sort="Robertson, Stephen P" uniqKey="Robertson S" first="Stephen P." last="Robertson">Stephen P. Robertson</name><affiliation wicri:level="1"><nlm:aff id="aff12">Department of Paediatrics and Child Health, Dunedin School of Medicine, University of Otago, Dunedin 9054, New Zealand</nlm:aff><country xml:lang="fr">Nouvelle-Zélande</country><wicri:regionArea>Department of Paediatrics and Child Health, Dunedin School of Medicine, University of Otago, Dunedin 9054</wicri:regionArea><wicri:noRegion>Dunedin 9054</wicri:noRegion></affiliation></author><author><name sortKey="Brunner, Han G" sort="Brunner, Han G" uniqKey="Brunner H" first="Han G." last="Brunner">Han G. Brunner</name><affiliation wicri:level="1"><nlm:aff id="aff1">Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences and Institute for Genetic and Metabolic Disorders, Radboud University Nijmegen Medical Centre, 6500HB Nijmegen, The Netherlands</nlm:aff><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences and Institute for Genetic and Metabolic Disorders, Radboud University Nijmegen Medical Centre, 6500HB Nijmegen</wicri:regionArea><placeName><settlement type="city">Nimègue</settlement><region type="province" nuts="2">Gueldre</region></placeName></affiliation></author><author><name sortKey="De Vries, Bert B A" sort="De Vries, Bert B A" uniqKey="De Vries B" first="Bert B. A." last="De Vries">Bert B. A. De Vries</name><affiliation wicri:level="1"><nlm:aff id="aff1">Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences and Institute for Genetic and Metabolic Disorders, Radboud University Nijmegen Medical Centre, 6500HB Nijmegen, The Netherlands</nlm:aff><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences and Institute for Genetic and Metabolic Disorders, Radboud University Nijmegen Medical Centre, 6500HB Nijmegen</wicri:regionArea><placeName><settlement type="city">Nimègue</settlement><region type="province" nuts="2">Gueldre</region></placeName></affiliation></author><author><name sortKey="Hoischen, Alexander" sort="Hoischen, Alexander" uniqKey="Hoischen A" first="Alexander" last="Hoischen">Alexander Hoischen</name><affiliation wicri:level="1"><nlm:aff id="aff1">Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences and Institute for Genetic and Metabolic Disorders, Radboud University Nijmegen Medical Centre, 6500HB Nijmegen, The Netherlands</nlm:aff><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences and Institute for Genetic and Metabolic Disorders, Radboud University Nijmegen Medical Centre, 6500HB Nijmegen</wicri:regionArea><placeName><settlement type="city">Nimègue</settlement><region type="province" nuts="2">Gueldre</region></placeName></affiliation><affiliation wicri:level="1"><nlm:aff id="aff13">Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital, 5021 Bergen, Norway</nlm:aff><country xml:lang="fr">Norvège</country><wicri:regionArea>Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital, 5021 Bergen</wicri:regionArea><wicri:noRegion>5021 Bergen</wicri:noRegion></affiliation></author></analytic><series><title level="j">American Journal of Human Genetics</title><idno type="ISSN">0002-9297</idno><idno type="eISSN">1537-6605</idno><imprint><date when="2012">2012</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p>Cantú syndrome is a rare disorder characterized by congenital hypertrichosis, neonatal macrosomia, a distinct osteochondrodysplasia, and cardiomegaly. Using an exome-sequencing approach applied to one proband-parent trio and three unrelated single cases, we identified heterozygous mutations in <italic>ABCC9</italic> in all probands. With the inclusion of the remaining cohort of ten individuals with Cantú syndrome, a total of eleven mutations in <italic>ABCC9</italic> were found. The de novo occurrence in all six simplex cases in our cohort substantiates the presence of a dominant disease mechanism. All mutations were missense, and several mutations affect Arg1154. This mutation hot spot lies within the second type 1 transmembrane region of this ATP-binding cassette transporter protein, which may suggest an activating mutation. <italic>ABCC9</italic> encodes the sulfonylurea receptor (SUR) that forms ATP-sensitive potassium channels (K<sub>ATP</sub> channels) originally shown in cardiac, skeletal, and smooth muscle. Previously, loss-of-function mutations in this gene have been associated with idiopathic dilated cardiomyopathy type 10 (CMD10). These findings identify the genetic basis of Cantú syndrome and suggest that this is a new member of the potassium channelopathies.</p></div></front></TEI><affiliations><list><country><li>Allemagne</li><li>Danemark</li><li>France</li><li>Norvège</li><li>Nouvelle-Zélande</li><li>Pays-Bas</li><li>Turquie</li><li>États-Unis</li></country><region><li>District de Cologne</li><li>Gueldre</li><li>Hambourg</li><li>Hollande-Septentrionale</li><li>Missouri (État)</li><li>Rhénanie-du-Nord-Westphalie</li><li>Île-de-France</li></region><settlement><li>Amsterdam</li><li>Bonn</li><li>Hambourg</li><li>Nimègue</li><li>Paris</li><li>Saint-Louis (Missouri)</li></settlement><orgName><li>Université Paris-Descartes</li><li>Université d'Amsterdam</li><li>École de médecine (Université Washington de Saint-Louis)</li></orgName></list><tree><country name="Pays-Bas"><region name="Gueldre"><name sortKey="Van Bon, Bregje W M" sort="Van Bon, Bregje W M" uniqKey="Van Bon B" first="Bregje W. M." last="Van Bon">Bregje W. M. Van Bon</name></region><name sortKey="Brunner, Han G" sort="Brunner, Han G" uniqKey="Brunner H" first="Han G." last="Brunner">Han G. Brunner</name><name sortKey="De Vries, Bert B A" sort="De Vries, Bert B A" uniqKey="De Vries B" first="Bert B. A." last="De Vries">Bert B. A. De Vries</name><name sortKey="De Vries, Petra" sort="De Vries, Petra" uniqKey="De Vries P" first="Petra" last="De Vries">Petra De Vries</name><name sortKey="Gilissen, Christian" sort="Gilissen, Christian" uniqKey="Gilissen C" first="Christian" last="Gilissen">Christian Gilissen</name><name sortKey="Hennekam, Raoul C M" sort="Hennekam, Raoul C M" uniqKey="Hennekam R" first="Raoul C. M." last="Hennekam">Raoul C. M. Hennekam</name><name sortKey="Hoischen, Alexander" sort="Hoischen, Alexander" uniqKey="Hoischen A" first="Alexander" last="Hoischen">Alexander Hoischen</name><name sortKey="Morava, Eva" sort="Morava, Eva" uniqKey="Morava E" first="Eva" last="Morava">Eva Morava</name><name sortKey="Steehouwer, Marloes" sort="Steehouwer, Marloes" uniqKey="Steehouwer M" first="Marloes" last="Steehouwer">Marloes Steehouwer</name><name sortKey="Veltman, Joris A" sort="Veltman, Joris A" uniqKey="Veltman J" first="Joris A." last="Veltman">Joris A. Veltman</name><name sortKey="Wieskamp, Nienke" sort="Wieskamp, Nienke" uniqKey="Wieskamp N" first="Nienke" last="Wieskamp">Nienke Wieskamp</name></country><country name="États-Unis"><region name="Missouri (État)"><name sortKey="Grange, Dorothy K" sort="Grange, Dorothy K" uniqKey="Grange D" first="Dorothy K." last="Grange">Dorothy K. Grange</name></region></country><country name="Turquie"><noRegion><name sortKey="Kayserili, Hulya" sort="Kayserili, Hulya" uniqKey="Kayserili H" first="Hülya" last="Kayserili">Hülya Kayserili</name></noRegion><name sortKey="Eser, Metin" sort="Eser, Metin" uniqKey="Eser M" first="Metin" last="Eser">Metin Eser</name></country><country name="Allemagne"><region name="Rhénanie-du-Nord-Westphalie"><name sortKey="Engels, Hartmut" sort="Engels, Hartmut" uniqKey="Engels H" first="Hartmut" last="Engels">Hartmut Engels</name></region><name sortKey="Reutter, Heiko" sort="Reutter, Heiko" uniqKey="Reutter H" first="Heiko" last="Reutter">Heiko Reutter</name><name sortKey="Reutter, Heiko" sort="Reutter, Heiko" uniqKey="Reutter H" first="Heiko" last="Reutter">Heiko Reutter</name><name sortKey="Tsiakas, Konstantinos" sort="Tsiakas, Konstantinos" uniqKey="Tsiakas K" first="Konstantinos" last="Tsiakas">Konstantinos Tsiakas</name></country><country name="Danemark"><noRegion><name sortKey="Ostergaard, John R" sort="Ostergaard, John R" uniqKey="Ostergaard J" first="John R." last="Ostergaard">John R. Ostergaard</name></noRegion></country><country name="France"><noRegion><name sortKey="Isidor, Bertrand" sort="Isidor, Bertrand" uniqKey="Isidor B" first="Bertrand" last="Isidor">Bertrand Isidor</name></noRegion><name sortKey="Le Merrer, Martine" sort="Le Merrer, Martine" uniqKey="Le Merrer M" first="Martine" last="Le Merrer">Martine Le Merrer</name></country><country name="Nouvelle-Zélande"><noRegion><name sortKey="Robertson, Stephen P" sort="Robertson, Stephen P" uniqKey="Robertson S" first="Stephen P." last="Robertson">Stephen P. Robertson</name></noRegion></country><country name="Norvège"><noRegion><name sortKey="Hoischen, Alexander" sort="Hoischen, Alexander" uniqKey="Hoischen A" first="Alexander" last="Hoischen">Alexander Hoischen</name></noRegion></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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