Cantú Syndrome Is Caused by Mutations in ABCC9
Identifieur interne : 001E54 ( Pmc/Corpus ); précédent : 001E53; suivant : 001E55Cantú Syndrome Is Caused by Mutations in ABCC9
Auteurs : Bregje W. M. Van Bon ; Christian Gilissen ; Dorothy K. Grange ; Raoul C. M. Hennekam ; Hülya Kayserili ; Hartmut Engels ; Heiko Reutter ; John R. Ostergaard ; Eva Morava ; Konstantinos Tsiakas ; Bertrand Isidor ; Martine Le Merrer ; Metin Eser ; Nienke Wieskamp ; Petra De Vries ; Marloes Steehouwer ; Joris A. Veltman ; Stephen P. Robertson ; Han G. Brunner ; Bert B. A. De Vries ; Alexander HoischenSource :
- 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
Links to Exploration step
PMC:3370286Le document en format XML
<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">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><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>
</affiliation>
</author>
<author><name sortKey="Gilissen, Christian" sort="Gilissen, Christian" uniqKey="Gilissen C" first="Christian" last="Gilissen">Christian Gilissen</name>
<affiliation><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>
</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><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>
</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><nlm:aff id="aff3">Department of Paediatrics and Translational Genetics, Academic Medical Center, University of Amsterdam, 1105AZ Amsterdam, The Netherlands</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Kayserili, Hulya" sort="Kayserili, Hulya" uniqKey="Kayserili H" first="Hülya" last="Kayserili">Hülya Kayserili</name>
<affiliation><nlm:aff id="aff4">Medical Genetics Department, İstanbul Medical Faculty, İstanbul University, Istanbul 34093, Turkey</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Engels, Hartmut" sort="Engels, Hartmut" uniqKey="Engels H" first="Hartmut" last="Engels">Hartmut Engels</name>
<affiliation><nlm:aff id="aff5">Institute of Human Genetics, University of Bonn, 53127 Bonn, Germany</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Reutter, Heiko" sort="Reutter, Heiko" uniqKey="Reutter H" first="Heiko" last="Reutter">Heiko Reutter</name>
<affiliation><nlm:aff id="aff5">Institute of Human Genetics, University of Bonn, 53127 Bonn, Germany</nlm:aff>
</affiliation>
<affiliation><nlm:aff id="aff6">Department of Neonatology, Children's Hospital, University of Bonn, 53127 Bonn, Germany</nlm:aff>
</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><nlm:aff id="aff7">Centre for Rare Diseases, Department of Pediatrics, Aarhus University Hospital Skejby, 8200 Aarhus N, Denmark</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Morava, Eva" sort="Morava, Eva" uniqKey="Morava E" first="Eva" last="Morava">Eva Morava</name>
<affiliation><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>
</affiliation>
</author>
<author><name sortKey="Tsiakas, Konstantinos" sort="Tsiakas, Konstantinos" uniqKey="Tsiakas K" first="Konstantinos" last="Tsiakas">Konstantinos Tsiakas</name>
<affiliation><nlm:aff id="aff9">Department of Pediatrics, University Medical Center Eppendorf, 20246 Hamburg, Germany</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Isidor, Bertrand" sort="Isidor, Bertrand" uniqKey="Isidor B" first="Bertrand" last="Isidor">Bertrand Isidor</name>
<affiliation><nlm:aff id="aff10">Clinical Genetics Unit, University Hospital Nantes, Nantes 44093, France</nlm:aff>
</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><nlm:aff id="aff11">Département de Génétique, Université Paris Descartes, Hôpital Necker—Enfants Malades, Paris 75015, France</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Eser, Metin" sort="Eser, Metin" uniqKey="Eser M" first="Metin" last="Eser">Metin Eser</name>
<affiliation><nlm:aff id="aff4">Medical Genetics Department, İstanbul Medical Faculty, İstanbul University, Istanbul 34093, Turkey</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Wieskamp, Nienke" sort="Wieskamp, Nienke" uniqKey="Wieskamp N" first="Nienke" last="Wieskamp">Nienke Wieskamp</name>
<affiliation><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>
</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><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>
</affiliation>
</author>
<author><name sortKey="Steehouwer, Marloes" sort="Steehouwer, Marloes" uniqKey="Steehouwer M" first="Marloes" last="Steehouwer">Marloes Steehouwer</name>
<affiliation><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>
</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><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>
</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><nlm:aff id="aff12">Department of Paediatrics and Child Health, Dunedin School of Medicine, University of Otago, Dunedin 9054, New Zealand</nlm:aff>
</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><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>
</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><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>
</affiliation>
</author>
<author><name sortKey="Hoischen, Alexander" sort="Hoischen, Alexander" uniqKey="Hoischen A" first="Alexander" last="Hoischen">Alexander Hoischen</name>
<affiliation><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>
</affiliation>
<affiliation><nlm:aff id="aff13">Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital, 5021 Bergen, Norway</nlm:aff>
</affiliation>
</author>
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<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><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>
</affiliation>
</author>
<author><name sortKey="Gilissen, Christian" sort="Gilissen, Christian" uniqKey="Gilissen C" first="Christian" last="Gilissen">Christian Gilissen</name>
<affiliation><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>
</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><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>
</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><nlm:aff id="aff3">Department of Paediatrics and Translational Genetics, Academic Medical Center, University of Amsterdam, 1105AZ Amsterdam, The Netherlands</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Kayserili, Hulya" sort="Kayserili, Hulya" uniqKey="Kayserili H" first="Hülya" last="Kayserili">Hülya Kayserili</name>
<affiliation><nlm:aff id="aff4">Medical Genetics Department, İstanbul Medical Faculty, İstanbul University, Istanbul 34093, Turkey</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Engels, Hartmut" sort="Engels, Hartmut" uniqKey="Engels H" first="Hartmut" last="Engels">Hartmut Engels</name>
<affiliation><nlm:aff id="aff5">Institute of Human Genetics, University of Bonn, 53127 Bonn, Germany</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Reutter, Heiko" sort="Reutter, Heiko" uniqKey="Reutter H" first="Heiko" last="Reutter">Heiko Reutter</name>
<affiliation><nlm:aff id="aff5">Institute of Human Genetics, University of Bonn, 53127 Bonn, Germany</nlm:aff>
</affiliation>
<affiliation><nlm:aff id="aff6">Department of Neonatology, Children's Hospital, University of Bonn, 53127 Bonn, Germany</nlm:aff>
</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><nlm:aff id="aff7">Centre for Rare Diseases, Department of Pediatrics, Aarhus University Hospital Skejby, 8200 Aarhus N, Denmark</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Morava, Eva" sort="Morava, Eva" uniqKey="Morava E" first="Eva" last="Morava">Eva Morava</name>
<affiliation><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>
</affiliation>
</author>
<author><name sortKey="Tsiakas, Konstantinos" sort="Tsiakas, Konstantinos" uniqKey="Tsiakas K" first="Konstantinos" last="Tsiakas">Konstantinos Tsiakas</name>
<affiliation><nlm:aff id="aff9">Department of Pediatrics, University Medical Center Eppendorf, 20246 Hamburg, Germany</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Isidor, Bertrand" sort="Isidor, Bertrand" uniqKey="Isidor B" first="Bertrand" last="Isidor">Bertrand Isidor</name>
<affiliation><nlm:aff id="aff10">Clinical Genetics Unit, University Hospital Nantes, Nantes 44093, France</nlm:aff>
</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><nlm:aff id="aff11">Département de Génétique, Université Paris Descartes, Hôpital Necker—Enfants Malades, Paris 75015, France</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Eser, Metin" sort="Eser, Metin" uniqKey="Eser M" first="Metin" last="Eser">Metin Eser</name>
<affiliation><nlm:aff id="aff4">Medical Genetics Department, İstanbul Medical Faculty, İstanbul University, Istanbul 34093, Turkey</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Wieskamp, Nienke" sort="Wieskamp, Nienke" uniqKey="Wieskamp N" first="Nienke" last="Wieskamp">Nienke Wieskamp</name>
<affiliation><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>
</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><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>
</affiliation>
</author>
<author><name sortKey="Steehouwer, Marloes" sort="Steehouwer, Marloes" uniqKey="Steehouwer M" first="Marloes" last="Steehouwer">Marloes Steehouwer</name>
<affiliation><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>
</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><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>
</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><nlm:aff id="aff12">Department of Paediatrics and Child Health, Dunedin School of Medicine, University of Otago, Dunedin 9054, New Zealand</nlm:aff>
</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><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>
</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><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>
</affiliation>
</author>
<author><name sortKey="Hoischen, Alexander" sort="Hoischen, Alexander" uniqKey="Hoischen A" first="Alexander" last="Hoischen">Alexander Hoischen</name>
<affiliation><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>
</affiliation>
<affiliation><nlm:aff id="aff13">Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital, 5021 Bergen, Norway</nlm:aff>
</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>
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<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>
<pmc article-type="brief-report"><pmc-comment>The publisher of this article does not allow downloading of the full text in XML form.</pmc-comment>
<front><journal-meta><journal-id journal-id-type="nlm-ta">Am J Hum Genet</journal-id>
<journal-id journal-id-type="iso-abbrev">Am. J. Hum. Genet</journal-id>
<journal-title-group><journal-title>American Journal of Human Genetics</journal-title>
</journal-title-group>
<issn pub-type="ppub">0002-9297</issn>
<issn pub-type="epub">1537-6605</issn>
<publisher><publisher-name>Elsevier</publisher-name>
</publisher>
</journal-meta>
<article-meta><article-id pub-id-type="pmid">22608503</article-id>
<article-id pub-id-type="pmc">3370286</article-id>
<article-id pub-id-type="publisher-id">AJHG1147</article-id>
<article-id pub-id-type="doi">10.1016/j.ajhg.2012.04.014</article-id>
<article-categories><subj-group subj-group-type="heading"><subject>Report</subject>
</subj-group>
</article-categories>
<title-group><article-title>Cantú Syndrome Is Caused by Mutations in <italic>ABCC9</italic>
</article-title>
</title-group>
<contrib-group><contrib contrib-type="author"><name><surname>van Bon</surname>
<given-names>Bregje W.M.</given-names>
</name>
<xref rid="aff1" ref-type="aff">1</xref>
<xref rid="fn1" ref-type="fn">14</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Gilissen</surname>
<given-names>Christian</given-names>
</name>
<xref rid="aff1" ref-type="aff">1</xref>
<xref rid="fn1" ref-type="fn">14</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Grange</surname>
<given-names>Dorothy K.</given-names>
</name>
<xref rid="aff2" ref-type="aff">2</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Hennekam</surname>
<given-names>Raoul C.M.</given-names>
</name>
<xref rid="aff3" ref-type="aff">3</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Kayserili</surname>
<given-names>Hülya</given-names>
</name>
<xref rid="aff4" ref-type="aff">4</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Engels</surname>
<given-names>Hartmut</given-names>
</name>
<xref rid="aff5" ref-type="aff">5</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Reutter</surname>
<given-names>Heiko</given-names>
</name>
<xref rid="aff5" ref-type="aff">5</xref>
<xref rid="aff6" ref-type="aff">6</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Ostergaard</surname>
<given-names>John R.</given-names>
</name>
<xref rid="aff7" ref-type="aff">7</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Morava</surname>
<given-names>Eva</given-names>
</name>
<xref rid="aff8" ref-type="aff">8</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Tsiakas</surname>
<given-names>Konstantinos</given-names>
</name>
<xref rid="aff9" ref-type="aff">9</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Isidor</surname>
<given-names>Bertrand</given-names>
</name>
<xref rid="aff10" ref-type="aff">10</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Le Merrer</surname>
<given-names>Martine</given-names>
</name>
<xref rid="aff11" ref-type="aff">11</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Eser</surname>
<given-names>Metin</given-names>
</name>
<xref rid="aff4" ref-type="aff">4</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Wieskamp</surname>
<given-names>Nienke</given-names>
</name>
<xref rid="aff1" ref-type="aff">1</xref>
</contrib>
<contrib contrib-type="author"><name><surname>de Vries</surname>
<given-names>Petra</given-names>
</name>
<xref rid="aff1" ref-type="aff">1</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Steehouwer</surname>
<given-names>Marloes</given-names>
</name>
<xref rid="aff1" ref-type="aff">1</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Veltman</surname>
<given-names>Joris A.</given-names>
</name>
<xref rid="aff1" ref-type="aff">1</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Robertson</surname>
<given-names>Stephen P.</given-names>
</name>
<xref rid="aff12" ref-type="aff">12</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Brunner</surname>
<given-names>Han G.</given-names>
</name>
<xref rid="aff1" ref-type="aff">1</xref>
</contrib>
<contrib contrib-type="author"><name><surname>de Vries</surname>
<given-names>Bert B.A.</given-names>
</name>
<email>b.devries@gen.umcn.nl</email>
<xref rid="aff1" ref-type="aff">1</xref>
<xref rid="cor1" ref-type="corresp">∗</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Hoischen</surname>
<given-names>Alexander</given-names>
</name>
<xref rid="aff1" ref-type="aff">1</xref>
<xref rid="aff13" ref-type="aff">13</xref>
</contrib>
</contrib-group>
<aff id="aff1"><label>1</label>
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</aff>
<aff id="aff2"><label>2</label>
Department of Pediatrics, Division of Genetics and Genomic Medicine, Washington University School of Medicine, St. Louis, MO 63110, USA</aff>
<aff id="aff3"><label>3</label>
Department of Paediatrics and Translational Genetics, Academic Medical Center, University of Amsterdam, 1105AZ Amsterdam, The Netherlands</aff>
<aff id="aff4"><label>4</label>
Medical Genetics Department, İstanbul Medical Faculty, İstanbul University, Istanbul 34093, Turkey</aff>
<aff id="aff5"><label>5</label>
Institute of Human Genetics, University of Bonn, 53127 Bonn, Germany</aff>
<aff id="aff6"><label>6</label>
Department of Neonatology, Children's Hospital, University of Bonn, 53127 Bonn, Germany</aff>
<aff id="aff7"><label>7</label>
Centre for Rare Diseases, Department of Pediatrics, Aarhus University Hospital Skejby, 8200 Aarhus N, Denmark</aff>
<aff id="aff8"><label>8</label>
Department of Pediatrics and Institute for Genetic and Metabolic Disease, Radboud University Nijmegen Medical Centre, Radboud University Nijmegen Medical Centre, 6500HB Nijmegen, The Netherlands</aff>
<aff id="aff9"><label>9</label>
Department of Pediatrics, University Medical Center Eppendorf, 20246 Hamburg, Germany</aff>
<aff id="aff10"><label>10</label>
Clinical Genetics Unit, University Hospital Nantes, Nantes 44093, France</aff>
<aff id="aff11"><label>11</label>
Département de Génétique, Université Paris Descartes, Hôpital Necker—Enfants Malades, Paris 75015, France</aff>
<aff id="aff12"><label>12</label>
Department of Paediatrics and Child Health, Dunedin School of Medicine, University of Otago, Dunedin 9054, New Zealand</aff>
<aff id="aff13"><label>13</label>
Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital, 5021 Bergen, Norway</aff>
<author-notes><corresp id="cor1"><label>∗</label>
Corresponding author <email>b.devries@gen.umcn.nl</email>
</corresp>
<fn id="fn1"><label>14</label>
<p>These authors contributed equally to this work</p>
</fn>
</author-notes>
<pub-date pub-type="ppub"><day>08</day>
<month>6</month>
<year>2012</year>
</pub-date>
<volume>90</volume>
<issue>6</issue>
<fpage>1094</fpage>
<lpage>1101</lpage>
<history><date date-type="received"><day>28</day>
<month>3</month>
<year>2012</year>
</date>
<date date-type="rev-recd"><day>12</day>
<month>4</month>
<year>2012</year>
</date>
<date date-type="accepted"><day>20</day>
<month>4</month>
<year>2012</year>
</date>
</history>
<permissions><copyright-statement>© 2012 The American Society of Human Genetics. Published by Elsevier Ltd. All right reserved.</copyright-statement>
<copyright-year>2012</copyright-year>
<copyright-holder>The American Society of Human Genetics</copyright-holder>
</permissions>
<abstract><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>
</abstract>
</article-meta>
</front>
</pmc>
</record>
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