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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Disruption of <italic>POGZ</italic> Is Associated with Intellectual Disability and Autism Spectrum Disorders</title><author><name sortKey="Stessman, Holly A F" sort="Stessman, Holly A F" uniqKey="Stessman H" first="Holly A. F." last="Stessman">Holly A. F. Stessman</name><affiliation><nlm:aff id="aff1">Department of Genome Sciences, University of Washington, Seattle, WA 98105, USA</nlm:aff></affiliation></author><author><name sortKey="Willemsen, Marjolein H" sort="Willemsen, Marjolein H" uniqKey="Willemsen M" first="Marjolein H." last="Willemsen">Marjolein H. Willemsen</name><affiliation><nlm:aff id="aff2">Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands</nlm:aff></affiliation><affiliation><nlm:aff id="aff3">Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands</nlm:aff></affiliation></author><author><name sortKey="Fenckova, Michaela" sort="Fenckova, Michaela" uniqKey="Fenckova M" first="Michaela" last="Fenckova">Michaela Fenckova</name><affiliation><nlm:aff id="aff2">Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands</nlm:aff></affiliation><affiliation><nlm:aff id="aff3">Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands</nlm:aff></affiliation></author><author><name sortKey="Penn, Osnat" sort="Penn, Osnat" uniqKey="Penn O" first="Osnat" last="Penn">Osnat Penn</name><affiliation><nlm:aff id="aff1">Department of Genome Sciences, University of Washington, Seattle, WA 98105, USA</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="aff2">Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands</nlm:aff></affiliation><affiliation><nlm:aff id="aff3">Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands</nlm:aff></affiliation></author><author><name sortKey="Xiong, Bo" sort="Xiong, Bo" uniqKey="Xiong B" first="Bo" last="Xiong">Bo Xiong</name><affiliation><nlm:aff id="aff1">Department of Genome Sciences, University of Washington, Seattle, WA 98105, USA</nlm:aff></affiliation></author><author><name sortKey="Wang, Tianyun" sort="Wang, Tianyun" uniqKey="Wang T" first="Tianyun" last="Wang">Tianyun Wang</name><affiliation><nlm:aff id="aff4">The State Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan 410078, China</nlm:aff></affiliation></author><author><name sortKey="Hoekzema, Kendra" sort="Hoekzema, Kendra" uniqKey="Hoekzema K" first="Kendra" last="Hoekzema">Kendra Hoekzema</name><affiliation><nlm:aff id="aff1">Department of Genome Sciences, University of Washington, Seattle, WA 98105, USA</nlm:aff></affiliation></author><author><name sortKey="Vives, Laura" sort="Vives, Laura" uniqKey="Vives L" first="Laura" last="Vives">Laura Vives</name><affiliation><nlm:aff id="aff1">Department of Genome Sciences, University of Washington, Seattle, WA 98105, USA</nlm:aff></affiliation></author><author><name sortKey="Vogel, Ida" sort="Vogel, Ida" uniqKey="Vogel I" first="Ida" last="Vogel">Ida Vogel</name><affiliation><nlm:aff id="aff5">Department of Clinical Genetics, Aarhus University Hospital, Skejby, 8000 Aarhus, Denmark</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="aff2">Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands</nlm:aff></affiliation><affiliation><nlm:aff id="aff3">Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands</nlm:aff></affiliation><affiliation><nlm:aff id="aff6">Department of Clinical Genetics, Maastricht University Medical Center+, 6229 HX Maastricht, the Netherlands</nlm:aff></affiliation></author><author><name sortKey="Van Der Burgt, Ineke" sort="Van Der Burgt, Ineke" uniqKey="Van Der Burgt I" first="Ineke" last="Van Der Burgt">Ineke Van Der Burgt</name><affiliation><nlm:aff id="aff2">Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands</nlm:aff></affiliation></author><author><name sortKey="Ockeloen, Charlotte W" sort="Ockeloen, Charlotte W" uniqKey="Ockeloen C" first="Charlotte W." last="Ockeloen">Charlotte W. Ockeloen</name><affiliation><nlm:aff id="aff2">Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands</nlm:aff></affiliation></author><author><name sortKey="Schuurs Hoeijmakers, Janneke H" sort="Schuurs Hoeijmakers, Janneke H" uniqKey="Schuurs Hoeijmakers J" first="Janneke H." last="Schuurs-Hoeijmakers">Janneke H. Schuurs-Hoeijmakers</name><affiliation><nlm:aff id="aff2">Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands</nlm:aff></affiliation></author><author><name sortKey="Klein Wassink Ruiter, Jolien S" sort="Klein Wassink Ruiter, Jolien S" uniqKey="Klein Wassink Ruiter J" first="Jolien S." last="Klein Wassink-Ruiter">Jolien S. Klein Wassink-Ruiter</name><affiliation><nlm:aff id="aff7">Department of Genetics, University of Groningen and University Medical Center Groningen, 9700 RB Groningen, the Netherlands</nlm:aff></affiliation></author><author><name sortKey="Stumpel, Connie" sort="Stumpel, Connie" uniqKey="Stumpel C" first="Connie" last="Stumpel">Connie Stumpel</name><affiliation><nlm:aff id="aff6">Department of Clinical Genetics, Maastricht University Medical Center+, 6229 HX Maastricht, the Netherlands</nlm:aff></affiliation></author><author><name sortKey="Stevens, Servi J C" sort="Stevens, Servi J C" uniqKey="Stevens S" first="Servi J. C." last="Stevens">Servi J. C. Stevens</name><affiliation><nlm:aff id="aff6">Department of Clinical Genetics, Maastricht University Medical Center+, 6229 HX Maastricht, the Netherlands</nlm:aff></affiliation></author><author><name sortKey="Vles, Hans S" sort="Vles, Hans S" uniqKey="Vles H" first="Hans S." last="Vles">Hans S. Vles</name><affiliation><nlm:aff id="aff8">Department of Neurologie, Maastricht University Medical Center+, 6229 HX Maastricht, the Netherlands</nlm:aff></affiliation></author><author><name sortKey="Marcelis, Carlo M" sort="Marcelis, Carlo M" uniqKey="Marcelis C" first="Carlo M." last="Marcelis">Carlo M. Marcelis</name><affiliation><nlm:aff id="aff2">Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands</nlm:aff></affiliation></author><author><name sortKey="Van Bokhoven, Hans" sort="Van Bokhoven, Hans" uniqKey="Van Bokhoven H" first="Hans" last="Van Bokhoven">Hans Van Bokhoven</name><affiliation><nlm:aff id="aff2">Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands</nlm:aff></affiliation><affiliation><nlm:aff id="aff3">Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands</nlm:aff></affiliation></author><author><name sortKey="Cantagrel, Vincent" sort="Cantagrel, Vincent" uniqKey="Cantagrel V" first="Vincent" last="Cantagrel">Vincent Cantagrel</name><affiliation><nlm:aff id="aff9">INSERM UMR 1163, Laboratory of Molecular and Pathophysiological Bases of Cognitive Disorders, Imagine Institute, 75015 Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff10">Paris Descartes University – Sorbonne Paris Cité, Imagine Institute, 75015 Paris, France</nlm:aff></affiliation></author><author><name sortKey="Colleaux, Laurence" sort="Colleaux, Laurence" uniqKey="Colleaux L" first="Laurence" last="Colleaux">Laurence Colleaux</name><affiliation><nlm:aff id="aff9">INSERM UMR 1163, Laboratory of Molecular and Pathophysiological Bases of Cognitive Disorders, Imagine Institute, 75015 Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff10">Paris Descartes University – Sorbonne Paris Cité, Imagine Institute, 75015 Paris, France</nlm:aff></affiliation></author><author><name sortKey="Nicouleau, Michael" sort="Nicouleau, Michael" uniqKey="Nicouleau M" first="Michael" last="Nicouleau">Michael Nicouleau</name><affiliation><nlm:aff id="aff9">INSERM UMR 1163, Laboratory of Molecular and Pathophysiological Bases of Cognitive Disorders, Imagine Institute, 75015 Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff10">Paris Descartes University – Sorbonne Paris Cité, Imagine Institute, 75015 Paris, France</nlm:aff></affiliation></author><author><name sortKey="Lyonnet, Stanislas" sort="Lyonnet, Stanislas" uniqKey="Lyonnet S" first="Stanislas" last="Lyonnet">Stanislas Lyonnet</name><affiliation><nlm:aff id="aff9">INSERM UMR 1163, Laboratory of Molecular and Pathophysiological Bases of Cognitive Disorders, Imagine Institute, 75015 Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff10">Paris Descartes University – Sorbonne Paris Cité, Imagine Institute, 75015 Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff11">Departments of Genetics, Hôpital Necker – Enfants Malades, Assistance Publique – Hôpitaux de Paris, 75015 Paris, France</nlm:aff></affiliation></author><author><name sortKey="Bernier, Raphael A" sort="Bernier, Raphael A" uniqKey="Bernier R" first="Raphael A." last="Bernier">Raphael A. Bernier</name><affiliation><nlm:aff id="aff12">Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, WA 98105, USA</nlm:aff></affiliation></author><author><name sortKey="Gerdts, Jennifer" sort="Gerdts, Jennifer" uniqKey="Gerdts J" first="Jennifer" last="Gerdts">Jennifer Gerdts</name><affiliation><nlm:aff id="aff12">Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, WA 98105, USA</nlm:aff></affiliation></author><author><name sortKey="Coe, Bradley P" sort="Coe, Bradley P" uniqKey="Coe B" first="Bradley P." last="Coe">Bradley P. Coe</name><affiliation><nlm:aff id="aff1">Department of Genome Sciences, University of Washington, Seattle, WA 98105, USA</nlm:aff></affiliation></author><author><name sortKey="Romano, Corrado" sort="Romano, Corrado" uniqKey="Romano C" first="Corrado" last="Romano">Corrado Romano</name><affiliation><nlm:aff id="aff13">Pediatrics & Medical Genetics, Istituto di Ricovero e Cura a Carattere Scientifico Associazione Oasi Maria Santissima, 94018 Troina, Italy</nlm:aff></affiliation></author><author><name sortKey="Alberti, Antonino" sort="Alberti, Antonino" uniqKey="Alberti A" first="Antonino" last="Alberti">Antonino Alberti</name><affiliation><nlm:aff id="aff13">Pediatrics & Medical Genetics, Istituto di Ricovero e Cura a Carattere Scientifico Associazione Oasi Maria Santissima, 94018 Troina, Italy</nlm:aff></affiliation></author><author><name sortKey="Grillo, Lucia" sort="Grillo, Lucia" uniqKey="Grillo L" first="Lucia" last="Grillo">Lucia Grillo</name><affiliation><nlm:aff id="aff14">Laboratory of Medical Genetics, Istituto di Ricovero e Cura a Carattere Scientifico Associazione Oasi Maria Santissima, 94018 Troina, Italy</nlm:aff></affiliation></author><author><name sortKey="Scuderi, Carmela" sort="Scuderi, Carmela" uniqKey="Scuderi C" first="Carmela" last="Scuderi">Carmela Scuderi</name><affiliation><nlm:aff id="aff15">Neuromuscular Diseases Unit, Istituto di Ricovero e Cura a Carattere Scientifico Associazione Oasi Maria Santissima, 94018 Troina, Italy</nlm:aff></affiliation></author><author><name sortKey="Nordenskjold, Magnus" sort="Nordenskjold, Magnus" uniqKey="Nordenskjold M" first="Magnus" last="Nordenskjöld">Magnus Nordenskjöld</name><affiliation><nlm:aff id="aff16">Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, 171 77 Solna, Sweden</nlm:aff></affiliation></author><author><name sortKey="Kvarnung, Malin" sort="Kvarnung, Malin" uniqKey="Kvarnung M" first="Malin" last="Kvarnung">Malin Kvarnung</name><affiliation><nlm:aff id="aff16">Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, 171 77 Solna, Sweden</nlm:aff></affiliation></author><author><name sortKey="Guo, Hui" sort="Guo, Hui" uniqKey="Guo H" first="Hui" last="Guo">Hui Guo</name><affiliation><nlm:aff id="aff4">The State Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan 410078, China</nlm:aff></affiliation></author><author><name sortKey="Xia, Kun" sort="Xia, Kun" uniqKey="Xia K" first="Kun" last="Xia">Kun Xia</name><affiliation><nlm:aff id="aff4">The State Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan 410078, China</nlm:aff></affiliation></author><author><name sortKey="Piton, Amelie" sort="Piton, Amelie" uniqKey="Piton A" first="Amélie" last="Piton">Amélie Piton</name><affiliation><nlm:aff id="aff17">Department of Translational Medicine and Neurogenetics, Institut Génétique Biologie Moléculaire Cellulaire, 67400 Illkirch, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff18">Laboratoire de Diagnostic Génétique, Hôpitaux Universitaires de Strasbourg, 67000 Strasbourg, France</nlm:aff></affiliation></author><author><name sortKey="Gerard, Benedicte" sort="Gerard, Benedicte" uniqKey="Gerard B" first="Bénédicte" last="Gerard">Bénédicte Gerard</name><affiliation><nlm:aff id="aff18">Laboratoire de Diagnostic Génétique, Hôpitaux Universitaires de Strasbourg, 67000 Strasbourg, France</nlm:aff></affiliation></author><author><name sortKey="Genevieve, David" sort="Genevieve, David" uniqKey="Genevieve D" first="David" last="Genevieve">David Genevieve</name><affiliation><nlm:aff id="aff19">Département de Génétique Médicale, Centre de Référence Maladies Rares Anomalies du Développement et Syndromes Malformatifs Sud-Languedoc Roussillon, Hôpital Arnaud de Villeneuve, 34090 Montpellier, France</nlm:aff></affiliation></author><author><name sortKey="Delobel, Bruno" sort="Delobel, Bruno" uniqKey="Delobel B" first="Bruno" last="Delobel">Bruno Delobel</name><affiliation><nlm:aff id="aff20">Centre de Génétique Chromosomique, Hôpital Saint Vincent de Paul, Groupement des Hôpitaux de l’Institut Catholique de Lille, 59000 Lille, France</nlm:aff></affiliation></author><author><name sortKey="Lehalle, Daphne" sort="Lehalle, Daphne" uniqKey="Lehalle D" first="Daphne" last="Lehalle">Daphne Lehalle</name><affiliation><nlm:aff id="aff21">Équipe EA4271-GAD, Centre de Référence Anomalies du Développement et Syndromes Malformatifs de l’Est, Fédération Hospitalo-Universitaire TRANSLAD, 21079 Dijon, France</nlm:aff></affiliation></author><author><name sortKey="Perrin, Laurence" sort="Perrin, Laurence" uniqKey="Perrin L" first="Laurence" last="Perrin">Laurence Perrin</name><affiliation><nlm:aff id="aff22">Service de Génétique Clinique, Hôpital Robert Debré, 75019 Paris, France</nlm:aff></affiliation></author><author><name sortKey="Prieur, Fabienne" sort="Prieur, Fabienne" uniqKey="Prieur F" first="Fabienne" last="Prieur">Fabienne Prieur</name><affiliation><nlm:aff id="aff23">Service de Génétique Clinique Chromosomique et Moléculaire, Centre Hospitalier Universitaire de Saint-Étienne, 42100 Saint-Étienne, France</nlm:aff></affiliation></author><author><name sortKey="Thevenon, Julien" sort="Thevenon, Julien" uniqKey="Thevenon J" first="Julien" last="Thevenon">Julien Thevenon</name><affiliation><nlm:aff id="aff21">Équipe EA4271-GAD, Centre de Référence Anomalies du Développement et Syndromes Malformatifs de l’Est, Fédération Hospitalo-Universitaire TRANSLAD, 21079 Dijon, France</nlm:aff></affiliation></author><author><name sortKey="Gecz, Jozef" sort="Gecz, Jozef" uniqKey="Gecz J" first="Jozef" last="Gecz">Jozef Gecz</name><affiliation><nlm:aff id="aff24">Robinson Research Institute, University of Adelaide and Women’s and Children’s Hospital, North Adelaide SA 5006, Australia</nlm:aff></affiliation></author><author><name sortKey="Shaw, Marie" sort="Shaw, Marie" uniqKey="Shaw M" first="Marie" last="Shaw">Marie Shaw</name><affiliation><nlm:aff id="aff24">Robinson Research Institute, University of Adelaide and Women’s and Children’s Hospital, North Adelaide SA 5006, Australia</nlm:aff></affiliation></author><author><name sortKey="Pfundt, Rolph" sort="Pfundt, Rolph" uniqKey="Pfundt R" first="Rolph" last="Pfundt">Rolph Pfundt</name><affiliation><nlm:aff id="aff2">Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands</nlm:aff></affiliation></author><author><name sortKey="Keren, Boris" sort="Keren, Boris" uniqKey="Keren B" first="Boris" last="Keren">Boris Keren</name><affiliation><nlm:aff id="aff25">Département de Génétique, Hôpital de la Pitié-Salpêtrière, Assistance Publique – Hôpitaux de Paris, 75013 Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff26">INSERM UM75 and U1127, CNRS UMR7225, Université Pierre et Marie Curie (Paris 6) and Institut du Cerveau et de la Moelle épinière, 75013 Paris, France</nlm:aff></affiliation></author><author><name sortKey="Jacquette, Aurelia" sort="Jacquette, Aurelia" uniqKey="Jacquette A" first="Aurelia" last="Jacquette">Aurelia Jacquette</name><affiliation><nlm:aff id="aff25">Département de Génétique, Hôpital de la Pitié-Salpêtrière, Assistance Publique – Hôpitaux de Paris, 75013 Paris, France</nlm:aff></affiliation></author><author><name sortKey="Schenck, Annette" sort="Schenck, Annette" uniqKey="Schenck A" first="Annette" last="Schenck">Annette Schenck</name><affiliation><nlm:aff id="aff2">Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands</nlm:aff></affiliation><affiliation><nlm:aff id="aff3">Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands</nlm:aff></affiliation></author><author><name sortKey="Eichler, Evan E" sort="Eichler, Evan E" uniqKey="Eichler E" first="Evan E." last="Eichler">Evan E. Eichler</name><affiliation><nlm:aff id="aff1">Department of Genome Sciences, University of Washington, Seattle, WA 98105, USA</nlm:aff></affiliation><affiliation><nlm:aff id="aff27">Howard Hughes Medical Institute, Seattle, WA 98195, USA</nlm:aff></affiliation></author><author><name sortKey="Kleefstra, Tjitske" sort="Kleefstra, Tjitske" uniqKey="Kleefstra T" first="Tjitske" last="Kleefstra">Tjitske Kleefstra</name><affiliation><nlm:aff id="aff2">Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands</nlm:aff></affiliation><affiliation><nlm:aff id="aff3">Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands</nlm:aff></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">26942287</idno><idno type="pmc">4890241</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4890241</idno><idno type="RBID">PMC:4890241</idno><idno type="doi">10.1016/j.ajhg.2016.02.004</idno><date when="2016">2016</date><idno type="wicri:Area/Pmc/Corpus">001692</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">001692</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Disruption of <italic>POGZ</italic> Is Associated with Intellectual Disability and Autism Spectrum Disorders</title><author><name sortKey="Stessman, Holly A F" sort="Stessman, Holly A F" uniqKey="Stessman H" first="Holly A. F." last="Stessman">Holly A. F. Stessman</name><affiliation><nlm:aff id="aff1">Department of Genome Sciences, University of Washington, Seattle, WA 98105, USA</nlm:aff></affiliation></author><author><name sortKey="Willemsen, Marjolein H" sort="Willemsen, Marjolein H" uniqKey="Willemsen M" first="Marjolein H." last="Willemsen">Marjolein H. Willemsen</name><affiliation><nlm:aff id="aff2">Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands</nlm:aff></affiliation><affiliation><nlm:aff id="aff3">Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands</nlm:aff></affiliation></author><author><name sortKey="Fenckova, Michaela" sort="Fenckova, Michaela" uniqKey="Fenckova M" first="Michaela" last="Fenckova">Michaela Fenckova</name><affiliation><nlm:aff id="aff2">Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands</nlm:aff></affiliation><affiliation><nlm:aff id="aff3">Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands</nlm:aff></affiliation></author><author><name sortKey="Penn, Osnat" sort="Penn, Osnat" uniqKey="Penn O" first="Osnat" last="Penn">Osnat Penn</name><affiliation><nlm:aff id="aff1">Department of Genome Sciences, University of Washington, Seattle, WA 98105, USA</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="aff2">Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands</nlm:aff></affiliation><affiliation><nlm:aff id="aff3">Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands</nlm:aff></affiliation></author><author><name sortKey="Xiong, Bo" sort="Xiong, Bo" uniqKey="Xiong B" first="Bo" last="Xiong">Bo Xiong</name><affiliation><nlm:aff id="aff1">Department of Genome Sciences, University of Washington, Seattle, WA 98105, USA</nlm:aff></affiliation></author><author><name sortKey="Wang, Tianyun" sort="Wang, Tianyun" uniqKey="Wang T" first="Tianyun" last="Wang">Tianyun Wang</name><affiliation><nlm:aff id="aff4">The State Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan 410078, China</nlm:aff></affiliation></author><author><name sortKey="Hoekzema, Kendra" sort="Hoekzema, Kendra" uniqKey="Hoekzema K" first="Kendra" last="Hoekzema">Kendra Hoekzema</name><affiliation><nlm:aff id="aff1">Department of Genome Sciences, University of Washington, Seattle, WA 98105, USA</nlm:aff></affiliation></author><author><name sortKey="Vives, Laura" sort="Vives, Laura" uniqKey="Vives L" first="Laura" last="Vives">Laura Vives</name><affiliation><nlm:aff id="aff1">Department of Genome Sciences, University of Washington, Seattle, WA 98105, USA</nlm:aff></affiliation></author><author><name sortKey="Vogel, Ida" sort="Vogel, Ida" uniqKey="Vogel I" first="Ida" last="Vogel">Ida Vogel</name><affiliation><nlm:aff id="aff5">Department of Clinical Genetics, Aarhus University Hospital, Skejby, 8000 Aarhus, Denmark</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="aff2">Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands</nlm:aff></affiliation><affiliation><nlm:aff id="aff3">Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands</nlm:aff></affiliation><affiliation><nlm:aff id="aff6">Department of Clinical Genetics, Maastricht University Medical Center+, 6229 HX Maastricht, the Netherlands</nlm:aff></affiliation></author><author><name sortKey="Van Der Burgt, Ineke" sort="Van Der Burgt, Ineke" uniqKey="Van Der Burgt I" first="Ineke" last="Van Der Burgt">Ineke Van Der Burgt</name><affiliation><nlm:aff id="aff2">Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands</nlm:aff></affiliation></author><author><name sortKey="Ockeloen, Charlotte W" sort="Ockeloen, Charlotte W" uniqKey="Ockeloen C" first="Charlotte W." last="Ockeloen">Charlotte W. Ockeloen</name><affiliation><nlm:aff id="aff2">Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands</nlm:aff></affiliation></author><author><name sortKey="Schuurs Hoeijmakers, Janneke H" sort="Schuurs Hoeijmakers, Janneke H" uniqKey="Schuurs Hoeijmakers J" first="Janneke H." last="Schuurs-Hoeijmakers">Janneke H. Schuurs-Hoeijmakers</name><affiliation><nlm:aff id="aff2">Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands</nlm:aff></affiliation></author><author><name sortKey="Klein Wassink Ruiter, Jolien S" sort="Klein Wassink Ruiter, Jolien S" uniqKey="Klein Wassink Ruiter J" first="Jolien S." last="Klein Wassink-Ruiter">Jolien S. Klein Wassink-Ruiter</name><affiliation><nlm:aff id="aff7">Department of Genetics, University of Groningen and University Medical Center Groningen, 9700 RB Groningen, the Netherlands</nlm:aff></affiliation></author><author><name sortKey="Stumpel, Connie" sort="Stumpel, Connie" uniqKey="Stumpel C" first="Connie" last="Stumpel">Connie Stumpel</name><affiliation><nlm:aff id="aff6">Department of Clinical Genetics, Maastricht University Medical Center+, 6229 HX Maastricht, the Netherlands</nlm:aff></affiliation></author><author><name sortKey="Stevens, Servi J C" sort="Stevens, Servi J C" uniqKey="Stevens S" first="Servi J. C." last="Stevens">Servi J. C. Stevens</name><affiliation><nlm:aff id="aff6">Department of Clinical Genetics, Maastricht University Medical Center+, 6229 HX Maastricht, the Netherlands</nlm:aff></affiliation></author><author><name sortKey="Vles, Hans S" sort="Vles, Hans S" uniqKey="Vles H" first="Hans S." last="Vles">Hans S. Vles</name><affiliation><nlm:aff id="aff8">Department of Neurologie, Maastricht University Medical Center+, 6229 HX Maastricht, the Netherlands</nlm:aff></affiliation></author><author><name sortKey="Marcelis, Carlo M" sort="Marcelis, Carlo M" uniqKey="Marcelis C" first="Carlo M." last="Marcelis">Carlo M. Marcelis</name><affiliation><nlm:aff id="aff2">Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands</nlm:aff></affiliation></author><author><name sortKey="Van Bokhoven, Hans" sort="Van Bokhoven, Hans" uniqKey="Van Bokhoven H" first="Hans" last="Van Bokhoven">Hans Van Bokhoven</name><affiliation><nlm:aff id="aff2">Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands</nlm:aff></affiliation><affiliation><nlm:aff id="aff3">Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands</nlm:aff></affiliation></author><author><name sortKey="Cantagrel, Vincent" sort="Cantagrel, Vincent" uniqKey="Cantagrel V" first="Vincent" last="Cantagrel">Vincent Cantagrel</name><affiliation><nlm:aff id="aff9">INSERM UMR 1163, Laboratory of Molecular and Pathophysiological Bases of Cognitive Disorders, Imagine Institute, 75015 Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff10">Paris Descartes University – Sorbonne Paris Cité, Imagine Institute, 75015 Paris, France</nlm:aff></affiliation></author><author><name sortKey="Colleaux, Laurence" sort="Colleaux, Laurence" uniqKey="Colleaux L" first="Laurence" last="Colleaux">Laurence Colleaux</name><affiliation><nlm:aff id="aff9">INSERM UMR 1163, Laboratory of Molecular and Pathophysiological Bases of Cognitive Disorders, Imagine Institute, 75015 Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff10">Paris Descartes University – Sorbonne Paris Cité, Imagine Institute, 75015 Paris, France</nlm:aff></affiliation></author><author><name sortKey="Nicouleau, Michael" sort="Nicouleau, Michael" uniqKey="Nicouleau M" first="Michael" last="Nicouleau">Michael Nicouleau</name><affiliation><nlm:aff id="aff9">INSERM UMR 1163, Laboratory of Molecular and Pathophysiological Bases of Cognitive Disorders, Imagine Institute, 75015 Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff10">Paris Descartes University – Sorbonne Paris Cité, Imagine Institute, 75015 Paris, France</nlm:aff></affiliation></author><author><name sortKey="Lyonnet, Stanislas" sort="Lyonnet, Stanislas" uniqKey="Lyonnet S" first="Stanislas" last="Lyonnet">Stanislas Lyonnet</name><affiliation><nlm:aff id="aff9">INSERM UMR 1163, Laboratory of Molecular and Pathophysiological Bases of Cognitive Disorders, Imagine Institute, 75015 Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff10">Paris Descartes University – Sorbonne Paris Cité, Imagine Institute, 75015 Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff11">Departments of Genetics, Hôpital Necker – Enfants Malades, Assistance Publique – Hôpitaux de Paris, 75015 Paris, France</nlm:aff></affiliation></author><author><name sortKey="Bernier, Raphael A" sort="Bernier, Raphael A" uniqKey="Bernier R" first="Raphael A." last="Bernier">Raphael A. Bernier</name><affiliation><nlm:aff id="aff12">Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, WA 98105, USA</nlm:aff></affiliation></author><author><name sortKey="Gerdts, Jennifer" sort="Gerdts, Jennifer" uniqKey="Gerdts J" first="Jennifer" last="Gerdts">Jennifer Gerdts</name><affiliation><nlm:aff id="aff12">Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, WA 98105, USA</nlm:aff></affiliation></author><author><name sortKey="Coe, Bradley P" sort="Coe, Bradley P" uniqKey="Coe B" first="Bradley P." last="Coe">Bradley P. Coe</name><affiliation><nlm:aff id="aff1">Department of Genome Sciences, University of Washington, Seattle, WA 98105, USA</nlm:aff></affiliation></author><author><name sortKey="Romano, Corrado" sort="Romano, Corrado" uniqKey="Romano C" first="Corrado" last="Romano">Corrado Romano</name><affiliation><nlm:aff id="aff13">Pediatrics & Medical Genetics, Istituto di Ricovero e Cura a Carattere Scientifico Associazione Oasi Maria Santissima, 94018 Troina, Italy</nlm:aff></affiliation></author><author><name sortKey="Alberti, Antonino" sort="Alberti, Antonino" uniqKey="Alberti A" first="Antonino" last="Alberti">Antonino Alberti</name><affiliation><nlm:aff id="aff13">Pediatrics & Medical Genetics, Istituto di Ricovero e Cura a Carattere Scientifico Associazione Oasi Maria Santissima, 94018 Troina, Italy</nlm:aff></affiliation></author><author><name sortKey="Grillo, Lucia" sort="Grillo, Lucia" uniqKey="Grillo L" first="Lucia" last="Grillo">Lucia Grillo</name><affiliation><nlm:aff id="aff14">Laboratory of Medical Genetics, Istituto di Ricovero e Cura a Carattere Scientifico Associazione Oasi Maria Santissima, 94018 Troina, Italy</nlm:aff></affiliation></author><author><name sortKey="Scuderi, Carmela" sort="Scuderi, Carmela" uniqKey="Scuderi C" first="Carmela" last="Scuderi">Carmela Scuderi</name><affiliation><nlm:aff id="aff15">Neuromuscular Diseases Unit, Istituto di Ricovero e Cura a Carattere Scientifico Associazione Oasi Maria Santissima, 94018 Troina, Italy</nlm:aff></affiliation></author><author><name sortKey="Nordenskjold, Magnus" sort="Nordenskjold, Magnus" uniqKey="Nordenskjold M" first="Magnus" last="Nordenskjöld">Magnus Nordenskjöld</name><affiliation><nlm:aff id="aff16">Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, 171 77 Solna, Sweden</nlm:aff></affiliation></author><author><name sortKey="Kvarnung, Malin" sort="Kvarnung, Malin" uniqKey="Kvarnung M" first="Malin" last="Kvarnung">Malin Kvarnung</name><affiliation><nlm:aff id="aff16">Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, 171 77 Solna, Sweden</nlm:aff></affiliation></author><author><name sortKey="Guo, Hui" sort="Guo, Hui" uniqKey="Guo H" first="Hui" last="Guo">Hui Guo</name><affiliation><nlm:aff id="aff4">The State Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan 410078, China</nlm:aff></affiliation></author><author><name sortKey="Xia, Kun" sort="Xia, Kun" uniqKey="Xia K" first="Kun" last="Xia">Kun Xia</name><affiliation><nlm:aff id="aff4">The State Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan 410078, China</nlm:aff></affiliation></author><author><name sortKey="Piton, Amelie" sort="Piton, Amelie" uniqKey="Piton A" first="Amélie" last="Piton">Amélie Piton</name><affiliation><nlm:aff id="aff17">Department of Translational Medicine and Neurogenetics, Institut Génétique Biologie Moléculaire Cellulaire, 67400 Illkirch, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff18">Laboratoire de Diagnostic Génétique, Hôpitaux Universitaires de Strasbourg, 67000 Strasbourg, France</nlm:aff></affiliation></author><author><name sortKey="Gerard, Benedicte" sort="Gerard, Benedicte" uniqKey="Gerard B" first="Bénédicte" last="Gerard">Bénédicte Gerard</name><affiliation><nlm:aff id="aff18">Laboratoire de Diagnostic Génétique, Hôpitaux Universitaires de Strasbourg, 67000 Strasbourg, France</nlm:aff></affiliation></author><author><name sortKey="Genevieve, David" sort="Genevieve, David" uniqKey="Genevieve D" first="David" last="Genevieve">David Genevieve</name><affiliation><nlm:aff id="aff19">Département de Génétique Médicale, Centre de Référence Maladies Rares Anomalies du Développement et Syndromes Malformatifs Sud-Languedoc Roussillon, Hôpital Arnaud de Villeneuve, 34090 Montpellier, France</nlm:aff></affiliation></author><author><name sortKey="Delobel, Bruno" sort="Delobel, Bruno" uniqKey="Delobel B" first="Bruno" last="Delobel">Bruno Delobel</name><affiliation><nlm:aff id="aff20">Centre de Génétique Chromosomique, Hôpital Saint Vincent de Paul, Groupement des Hôpitaux de l’Institut Catholique de Lille, 59000 Lille, France</nlm:aff></affiliation></author><author><name sortKey="Lehalle, Daphne" sort="Lehalle, Daphne" uniqKey="Lehalle D" first="Daphne" last="Lehalle">Daphne Lehalle</name><affiliation><nlm:aff id="aff21">Équipe EA4271-GAD, Centre de Référence Anomalies du Développement et Syndromes Malformatifs de l’Est, Fédération Hospitalo-Universitaire TRANSLAD, 21079 Dijon, France</nlm:aff></affiliation></author><author><name sortKey="Perrin, Laurence" sort="Perrin, Laurence" uniqKey="Perrin L" first="Laurence" last="Perrin">Laurence Perrin</name><affiliation><nlm:aff id="aff22">Service de Génétique Clinique, Hôpital Robert Debré, 75019 Paris, France</nlm:aff></affiliation></author><author><name sortKey="Prieur, Fabienne" sort="Prieur, Fabienne" uniqKey="Prieur F" first="Fabienne" last="Prieur">Fabienne Prieur</name><affiliation><nlm:aff id="aff23">Service de Génétique Clinique Chromosomique et Moléculaire, Centre Hospitalier Universitaire de Saint-Étienne, 42100 Saint-Étienne, France</nlm:aff></affiliation></author><author><name sortKey="Thevenon, Julien" sort="Thevenon, Julien" uniqKey="Thevenon J" first="Julien" last="Thevenon">Julien Thevenon</name><affiliation><nlm:aff id="aff21">Équipe EA4271-GAD, Centre de Référence Anomalies du Développement et Syndromes Malformatifs de l’Est, Fédération Hospitalo-Universitaire TRANSLAD, 21079 Dijon, France</nlm:aff></affiliation></author><author><name sortKey="Gecz, Jozef" sort="Gecz, Jozef" uniqKey="Gecz J" first="Jozef" last="Gecz">Jozef Gecz</name><affiliation><nlm:aff id="aff24">Robinson Research Institute, University of Adelaide and Women’s and Children’s Hospital, North Adelaide SA 5006, Australia</nlm:aff></affiliation></author><author><name sortKey="Shaw, Marie" sort="Shaw, Marie" uniqKey="Shaw M" first="Marie" last="Shaw">Marie Shaw</name><affiliation><nlm:aff id="aff24">Robinson Research Institute, University of Adelaide and Women’s and Children’s Hospital, North Adelaide SA 5006, Australia</nlm:aff></affiliation></author><author><name sortKey="Pfundt, Rolph" sort="Pfundt, Rolph" uniqKey="Pfundt R" first="Rolph" last="Pfundt">Rolph Pfundt</name><affiliation><nlm:aff id="aff2">Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands</nlm:aff></affiliation></author><author><name sortKey="Keren, Boris" sort="Keren, Boris" uniqKey="Keren B" first="Boris" last="Keren">Boris Keren</name><affiliation><nlm:aff id="aff25">Département de Génétique, Hôpital de la Pitié-Salpêtrière, Assistance Publique – Hôpitaux de Paris, 75013 Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff26">INSERM UM75 and U1127, CNRS UMR7225, Université Pierre et Marie Curie (Paris 6) and Institut du Cerveau et de la Moelle épinière, 75013 Paris, France</nlm:aff></affiliation></author><author><name sortKey="Jacquette, Aurelia" sort="Jacquette, Aurelia" uniqKey="Jacquette A" first="Aurelia" last="Jacquette">Aurelia Jacquette</name><affiliation><nlm:aff id="aff25">Département de Génétique, Hôpital de la Pitié-Salpêtrière, Assistance Publique – Hôpitaux de Paris, 75013 Paris, France</nlm:aff></affiliation></author><author><name sortKey="Schenck, Annette" sort="Schenck, Annette" uniqKey="Schenck A" first="Annette" last="Schenck">Annette Schenck</name><affiliation><nlm:aff id="aff2">Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands</nlm:aff></affiliation><affiliation><nlm:aff id="aff3">Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands</nlm:aff></affiliation></author><author><name sortKey="Eichler, Evan E" sort="Eichler, Evan E" uniqKey="Eichler E" first="Evan E." last="Eichler">Evan E. Eichler</name><affiliation><nlm:aff id="aff1">Department of Genome Sciences, University of Washington, Seattle, WA 98105, USA</nlm:aff></affiliation><affiliation><nlm:aff id="aff27">Howard Hughes Medical Institute, Seattle, WA 98195, USA</nlm:aff></affiliation></author><author><name sortKey="Kleefstra, Tjitske" sort="Kleefstra, Tjitske" uniqKey="Kleefstra T" first="Tjitske" last="Kleefstra">Tjitske Kleefstra</name><affiliation><nlm:aff id="aff2">Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands</nlm:aff></affiliation><affiliation><nlm:aff id="aff3">Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands</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="2016">2016</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p>Intellectual disability (ID) and autism spectrum disorders (ASD) are genetically heterogeneous, and a significant number of genes have been associated with both conditions. A few mutations in <italic>POGZ</italic> have been reported in recent exome studies; however, these studies do not provide detailed clinical information. We collected the clinical and molecular data of 25 individuals with disruptive mutations in <italic>POGZ</italic> by diagnostic whole-exome, whole-genome, or targeted sequencing of 5,223 individuals with neurodevelopmental disorders (ID primarily) or by targeted resequencing of this locus in 12,041 individuals with ASD and/or ID. The rarity of disruptive mutations among unaffected individuals (2/49,401) highlights the significance (p = 4.19 × 10<sup>−13</sup>; odds ratio = 35.8) and penetrance (65.9%) of this genetic subtype with respect to ASD and ID. By studying the entire cohort, we defined common phenotypic features of <italic>POGZ</italic> individuals, including variable levels of developmental delay (DD) and more severe speech and language delay in comparison to the severity of motor delay and coordination issues. We also identified significant associations with vision problems, microcephaly, hyperactivity, a tendency to obesity, and feeding difficulties. Some features might be explained by the high expression of <italic>POGZ</italic>, particularly in the cerebellum and pituitary, early in fetal brain development. We conducted parallel studies in <italic>Drosophila</italic> by inducing conditional knockdown of the <italic>POGZ</italic> ortholog <italic>row,</italic> further confirming that dosage of <italic>POGZ</italic>, specifically in neurons, is essential for normal learning in a habituation paradigm. Combined, the data underscore the pathogenicity of loss-of-function mutations in <italic>POGZ</italic> and define a <italic>POGZ</italic>-related phenotype enriched in specific features.</p></div></front></TEI><pmc article-type="research-article"><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">26942287</article-id><article-id pub-id-type="pmc">4890241</article-id><article-id pub-id-type="publisher-id">S0002-9297(16)00055-0</article-id><article-id pub-id-type="doi">10.1016/j.ajhg.2016.02.004</article-id><article-categories><subj-group subj-group-type="heading"><subject>Article</subject></subj-group></article-categories><title-group><article-title>Disruption of <italic>POGZ</italic> Is Associated with Intellectual Disability and Autism Spectrum Disorders</article-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>Stessman</surname><given-names>Holly A.F.</given-names></name><xref rid="aff1" ref-type="aff">1</xref><xref rid="fn1" ref-type="fn">28</xref></contrib><contrib contrib-type="author"><name><surname>Willemsen</surname><given-names>Marjolein H.</given-names></name><email>marjolein.willemsen@radboudumc.nl</email><xref rid="aff2" ref-type="aff">2</xref><xref rid="aff3" ref-type="aff">3</xref><xref rid="fn1" ref-type="fn">28</xref><xref rid="cor1" ref-type="corresp">∗</xref></contrib><contrib contrib-type="author"><name><surname>Fenckova</surname><given-names>Michaela</given-names></name><xref rid="aff2" ref-type="aff">2</xref><xref rid="aff3" ref-type="aff">3</xref></contrib><contrib contrib-type="author"><name><surname>Penn</surname><given-names>Osnat</given-names></name><xref rid="aff1" ref-type="aff">1</xref></contrib><contrib contrib-type="author"><name><surname>Hoischen</surname><given-names>Alexander</given-names></name><xref rid="aff2" ref-type="aff">2</xref><xref rid="aff3" ref-type="aff">3</xref></contrib><contrib contrib-type="author"><name><surname>Xiong</surname><given-names>Bo</given-names></name><xref rid="aff1" ref-type="aff">1</xref></contrib><contrib contrib-type="author"><name><surname>Wang</surname><given-names>Tianyun</given-names></name><xref rid="aff4" ref-type="aff">4</xref></contrib><contrib contrib-type="author"><name><surname>Hoekzema</surname><given-names>Kendra</given-names></name><xref rid="aff1" ref-type="aff">1</xref></contrib><contrib contrib-type="author"><name><surname>Vives</surname><given-names>Laura</given-names></name><xref rid="aff1" ref-type="aff">1</xref></contrib><contrib contrib-type="author"><name><surname>Vogel</surname><given-names>Ida</given-names></name><xref rid="aff5" ref-type="aff">5</xref></contrib><contrib contrib-type="author"><name><surname>Brunner</surname><given-names>Han G.</given-names></name><xref rid="aff2" ref-type="aff">2</xref><xref rid="aff3" ref-type="aff">3</xref><xref rid="aff6" ref-type="aff">6</xref></contrib><contrib contrib-type="author"><name><surname>van der Burgt</surname><given-names>Ineke</given-names></name><xref rid="aff2" ref-type="aff">2</xref></contrib><contrib contrib-type="author"><name><surname>Ockeloen</surname><given-names>Charlotte W.</given-names></name><xref rid="aff2" ref-type="aff">2</xref></contrib><contrib contrib-type="author"><name><surname>Schuurs-Hoeijmakers</surname><given-names>Janneke H.</given-names></name><xref rid="aff2" ref-type="aff">2</xref></contrib><contrib contrib-type="author"><name><surname>Klein Wassink-Ruiter</surname><given-names>Jolien S.</given-names></name><xref rid="aff7" ref-type="aff">7</xref></contrib><contrib contrib-type="author"><name><surname>Stumpel</surname><given-names>Connie</given-names></name><xref rid="aff6" ref-type="aff">6</xref></contrib><contrib contrib-type="author"><name><surname>Stevens</surname><given-names>Servi J.C.</given-names></name><xref rid="aff6" ref-type="aff">6</xref></contrib><contrib contrib-type="author"><name><surname>Vles</surname><given-names>Hans S.</given-names></name><xref rid="aff8" ref-type="aff">8</xref></contrib><contrib contrib-type="author"><name><surname>Marcelis</surname><given-names>Carlo M.</given-names></name><xref rid="aff2" ref-type="aff">2</xref></contrib><contrib contrib-type="author"><name><surname>van Bokhoven</surname><given-names>Hans</given-names></name><xref rid="aff2" ref-type="aff">2</xref><xref rid="aff3" ref-type="aff">3</xref></contrib><contrib contrib-type="author"><name><surname>Cantagrel</surname><given-names>Vincent</given-names></name><xref rid="aff9" ref-type="aff">9</xref><xref rid="aff10" ref-type="aff">10</xref></contrib><contrib contrib-type="author"><name><surname>Colleaux</surname><given-names>Laurence</given-names></name><xref rid="aff9" ref-type="aff">9</xref><xref rid="aff10" ref-type="aff">10</xref></contrib><contrib contrib-type="author"><name><surname>Nicouleau</surname><given-names>Michael</given-names></name><xref rid="aff9" ref-type="aff">9</xref><xref rid="aff10" ref-type="aff">10</xref></contrib><contrib contrib-type="author"><name><surname>Lyonnet</surname><given-names>Stanislas</given-names></name><xref rid="aff9" ref-type="aff">9</xref><xref rid="aff10" ref-type="aff">10</xref><xref rid="aff11" ref-type="aff">11</xref></contrib><contrib contrib-type="author"><name><surname>Bernier</surname><given-names>Raphael A.</given-names></name><xref rid="aff12" ref-type="aff">12</xref></contrib><contrib contrib-type="author"><name><surname>Gerdts</surname><given-names>Jennifer</given-names></name><xref rid="aff12" ref-type="aff">12</xref></contrib><contrib contrib-type="author"><name><surname>Coe</surname><given-names>Bradley P.</given-names></name><xref rid="aff1" ref-type="aff">1</xref></contrib><contrib contrib-type="author"><name><surname>Romano</surname><given-names>Corrado</given-names></name><xref rid="aff13" ref-type="aff">13</xref></contrib><contrib contrib-type="author"><name><surname>Alberti</surname><given-names>Antonino</given-names></name><xref rid="aff13" ref-type="aff">13</xref></contrib><contrib contrib-type="author"><name><surname>Grillo</surname><given-names>Lucia</given-names></name><xref rid="aff14" ref-type="aff">14</xref></contrib><contrib contrib-type="author"><name><surname>Scuderi</surname><given-names>Carmela</given-names></name><xref rid="aff15" ref-type="aff">15</xref></contrib><contrib contrib-type="author"><name><surname>Nordenskjöld</surname><given-names>Magnus</given-names></name><xref rid="aff16" ref-type="aff">16</xref></contrib><contrib contrib-type="author"><name><surname>Kvarnung</surname><given-names>Malin</given-names></name><xref rid="aff16" ref-type="aff">16</xref></contrib><contrib contrib-type="author"><name><surname>Guo</surname><given-names>Hui</given-names></name><xref rid="aff4" ref-type="aff">4</xref></contrib><contrib contrib-type="author"><name><surname>Xia</surname><given-names>Kun</given-names></name><xref rid="aff4" ref-type="aff">4</xref></contrib><contrib contrib-type="author"><name><surname>Piton</surname><given-names>Amélie</given-names></name><xref rid="aff17" ref-type="aff">17</xref><xref rid="aff18" ref-type="aff">18</xref></contrib><contrib contrib-type="author"><name><surname>Gerard</surname><given-names>Bénédicte</given-names></name><xref rid="aff18" ref-type="aff">18</xref></contrib><contrib contrib-type="author"><name><surname>Genevieve</surname><given-names>David</given-names></name><xref rid="aff19" ref-type="aff">19</xref></contrib><contrib contrib-type="author"><name><surname>Delobel</surname><given-names>Bruno</given-names></name><xref rid="aff20" ref-type="aff">20</xref></contrib><contrib contrib-type="author"><name><surname>Lehalle</surname><given-names>Daphne</given-names></name><xref rid="aff21" ref-type="aff">21</xref></contrib><contrib contrib-type="author"><name><surname>Perrin</surname><given-names>Laurence</given-names></name><xref rid="aff22" ref-type="aff">22</xref></contrib><contrib contrib-type="author"><name><surname>Prieur</surname><given-names>Fabienne</given-names></name><xref rid="aff23" ref-type="aff">23</xref></contrib><contrib contrib-type="author"><name><surname>Thevenon</surname><given-names>Julien</given-names></name><xref rid="aff21" ref-type="aff">21</xref></contrib><contrib contrib-type="author"><name><surname>Gecz</surname><given-names>Jozef</given-names></name><xref rid="aff24" ref-type="aff">24</xref></contrib><contrib contrib-type="author"><name><surname>Shaw</surname><given-names>Marie</given-names></name><xref rid="aff24" ref-type="aff">24</xref></contrib><contrib contrib-type="author"><name><surname>Pfundt</surname><given-names>Rolph</given-names></name><xref rid="aff2" ref-type="aff">2</xref></contrib><contrib contrib-type="author"><name><surname>Keren</surname><given-names>Boris</given-names></name><xref rid="aff25" ref-type="aff">25</xref><xref rid="aff26" ref-type="aff">26</xref></contrib><contrib contrib-type="author"><name><surname>Jacquette</surname><given-names>Aurelia</given-names></name><xref rid="aff25" ref-type="aff">25</xref></contrib><contrib contrib-type="author"><name><surname>Schenck</surname><given-names>Annette</given-names></name><xref rid="aff2" ref-type="aff">2</xref><xref rid="aff3" ref-type="aff">3</xref></contrib><contrib contrib-type="author"><name><surname>Eichler</surname><given-names>Evan E.</given-names></name><email>eee@gs.washington.edu</email><xref rid="aff1" ref-type="aff">1</xref><xref rid="aff27" ref-type="aff">27</xref><xref rid="fn2" ref-type="fn">29</xref><xref rid="cor2" ref-type="corresp">∗∗</xref></contrib><contrib contrib-type="author"><name><surname>Kleefstra</surname><given-names>Tjitske</given-names></name><xref rid="aff2" ref-type="aff">2</xref><xref rid="aff3" ref-type="aff">3</xref><xref rid="fn2" ref-type="fn">29</xref></contrib></contrib-group><aff id="aff1"><label>1</label>Department of Genome Sciences, University of Washington, Seattle, WA 98105, USA</aff><aff id="aff2"><label>2</label>Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands</aff><aff id="aff3"><label>3</label>Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands</aff><aff id="aff4"><label>4</label>The State Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan 410078, China</aff><aff id="aff5"><label>5</label>Department of Clinical Genetics, Aarhus University Hospital, Skejby, 8000 Aarhus, Denmark</aff><aff id="aff6"><label>6</label>Department of Clinical Genetics, Maastricht University Medical Center+, 6229 HX Maastricht, the Netherlands</aff><aff id="aff7"><label>7</label>Department of Genetics, University of Groningen and University Medical Center Groningen, 9700 RB Groningen, the Netherlands</aff><aff id="aff8"><label>8</label>Department of Neurologie, Maastricht University Medical Center+, 6229 HX Maastricht, the Netherlands</aff><aff id="aff9"><label>9</label>INSERM UMR 1163, Laboratory of Molecular and Pathophysiological Bases of Cognitive Disorders, Imagine Institute, 75015 Paris, France</aff><aff id="aff10"><label>10</label>Paris Descartes University – Sorbonne Paris Cité, Imagine Institute, 75015 Paris, France</aff><aff id="aff11"><label>11</label>Departments of Genetics, Hôpital Necker – Enfants Malades, Assistance Publique – Hôpitaux de Paris, 75015 Paris, France</aff><aff id="aff12"><label>12</label>Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, WA 98105, USA</aff><aff id="aff13"><label>13</label>Pediatrics & Medical Genetics, Istituto di Ricovero e Cura a Carattere Scientifico Associazione Oasi Maria Santissima, 94018 Troina, Italy</aff><aff id="aff14"><label>14</label>Laboratory of Medical Genetics, Istituto di Ricovero e Cura a Carattere Scientifico Associazione Oasi Maria Santissima, 94018 Troina, Italy</aff><aff id="aff15"><label>15</label>Neuromuscular Diseases Unit, Istituto di Ricovero e Cura a Carattere Scientifico Associazione Oasi Maria Santissima, 94018 Troina, Italy</aff><aff id="aff16"><label>16</label>Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, 171 77 Solna, Sweden</aff><aff id="aff17"><label>17</label>Department of Translational Medicine and Neurogenetics, Institut Génétique Biologie Moléculaire Cellulaire, 67400 Illkirch, France</aff><aff id="aff18"><label>18</label>Laboratoire de Diagnostic Génétique, Hôpitaux Universitaires de Strasbourg, 67000 Strasbourg, France</aff><aff id="aff19"><label>19</label>Département de Génétique Médicale, Centre de Référence Maladies Rares Anomalies du Développement et Syndromes Malformatifs Sud-Languedoc Roussillon, Hôpital Arnaud de Villeneuve, 34090 Montpellier, France</aff><aff id="aff20"><label>20</label>Centre de Génétique Chromosomique, Hôpital Saint Vincent de Paul, Groupement des Hôpitaux de l’Institut Catholique de Lille, 59000 Lille, France</aff><aff id="aff21"><label>21</label>Équipe EA4271-GAD, Centre de Référence Anomalies du Développement et Syndromes Malformatifs de l’Est, Fédération Hospitalo-Universitaire TRANSLAD, 21079 Dijon, France</aff><aff id="aff22"><label>22</label>Service de Génétique Clinique, Hôpital Robert Debré, 75019 Paris, France</aff><aff id="aff23"><label>23</label>Service de Génétique Clinique Chromosomique et Moléculaire, Centre Hospitalier Universitaire de Saint-Étienne, 42100 Saint-Étienne, France</aff><aff id="aff24"><label>24</label>Robinson Research Institute, University of Adelaide and Women’s and Children’s Hospital, North Adelaide SA 5006, Australia</aff><aff id="aff25"><label>25</label>Département de Génétique, Hôpital de la Pitié-Salpêtrière, Assistance Publique – Hôpitaux de Paris, 75013 Paris, France</aff><aff id="aff26"><label>26</label>INSERM UM75 and U1127, CNRS UMR7225, Université Pierre et Marie Curie (Paris 6) and Institut du Cerveau et de la Moelle épinière, 75013 Paris, France</aff><aff id="aff27"><label>27</label>Howard Hughes Medical Institute, Seattle, WA 98195, USA</aff><author-notes><corresp id="cor1"><label>∗</label>Corresponding author <email>marjolein.willemsen@radboudumc.nl</email></corresp><corresp id="cor2"><label>∗∗</label>Corresponding author <email>eee@gs.washington.edu</email></corresp><fn id="fn1"><label>28</label><p id="ntpara0010">These authors contributed equally to this work</p></fn><fn id="fn2"><label>29</label><p id="ntpara0015">These authors contributed equally to this work</p></fn></author-notes><pub-date pub-type="ppub"><day>03</day><month>3</month><year>2016</year></pub-date><pub-date pub-type="epub"><day>03</day><month>3</month><year>2016</year></pub-date><volume>98</volume><issue>3</issue><fpage>541</fpage><lpage>552</lpage><history><date date-type="received"><day>11</day><month>12</month><year>2015</year></date><date date-type="accepted"><day>5</day><month>2</month><year>2016</year></date></history><permissions><copyright-statement>©2016 by The American Society of Human Genetics. All rights reserved.</copyright-statement><copyright-year>2016</copyright-year><copyright-holder>The American Society of Human Genetics</copyright-holder></permissions><abstract><p>Intellectual disability (ID) and autism spectrum disorders (ASD) are genetically heterogeneous, and a significant number of genes have been associated with both conditions. A few mutations in <italic>POGZ</italic> have been reported in recent exome studies; however, these studies do not provide detailed clinical information. We collected the clinical and molecular data of 25 individuals with disruptive mutations in <italic>POGZ</italic> by diagnostic whole-exome, whole-genome, or targeted sequencing of 5,223 individuals with neurodevelopmental disorders (ID primarily) or by targeted resequencing of this locus in 12,041 individuals with ASD and/or ID. The rarity of disruptive mutations among unaffected individuals (2/49,401) highlights the significance (p = 4.19 × 10<sup>−13</sup>; odds ratio = 35.8) and penetrance (65.9%) of this genetic subtype with respect to ASD and ID. By studying the entire cohort, we defined common phenotypic features of <italic>POGZ</italic> individuals, including variable levels of developmental delay (DD) and more severe speech and language delay in comparison to the severity of motor delay and coordination issues. We also identified significant associations with vision problems, microcephaly, hyperactivity, a tendency to obesity, and feeding difficulties. Some features might be explained by the high expression of <italic>POGZ</italic>, particularly in the cerebellum and pituitary, early in fetal brain development. We conducted parallel studies in <italic>Drosophila</italic> by inducing conditional knockdown of the <italic>POGZ</italic> ortholog <italic>row,</italic> further confirming that dosage of <italic>POGZ</italic>, specifically in neurons, is essential for normal learning in a habituation paradigm. Combined, the data underscore the pathogenicity of loss-of-function mutations in <italic>POGZ</italic> and define a <italic>POGZ</italic>-related phenotype enriched in specific features.</p></abstract></article-meta><notes><p id="misc0010">Published: March 3, 2016</p></notes></front></pmc></record>Pour manipuler ce document sous Unix (Dilib)
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