Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders.
Identifieur interne : 002093 ( PubMed/Curation ); précédent : 002092; suivant : 002094Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders.
Auteurs : Holly A F. Stessman [États-Unis] ; Marjolein H. Willemsen [Pays-Bas] ; Michaela Fenckova [Pays-Bas] ; Osnat Penn [États-Unis] ; Alexander Hoischen [Pays-Bas] ; Bo Xiong [États-Unis] ; Tianyun Wang [République populaire de Chine] ; Kendra Hoekzema [États-Unis] ; Laura Vives [États-Unis] ; Ida Vogel [Danemark] ; Han G. Brunner [Pays-Bas] ; Ineke Van Der Burgt [Pays-Bas] ; Charlotte W. Ockeloen [Pays-Bas] ; Janneke H. Schuurs-Hoeijmakers [Pays-Bas] ; Jolien S. Klein Wassink-Ruiter [Pays-Bas] ; Connie Stumpel [Pays-Bas] ; Servi J C. Stevens [Pays-Bas] ; Hans S. Vles [Pays-Bas] ; Carlo M. Marcelis [Pays-Bas] ; Hans Van Bokhoven [Pays-Bas] ; Vincent Cantagrel [France] ; Laurence Colleaux [France] ; Michael Nicouleau [France] ; Stanislas Lyonnet [France] ; Raphael A. Bernier [États-Unis] ; Jennifer Gerdts [États-Unis] ; Bradley P. Coe [États-Unis] ; Corrado Romano [Italie] ; Antonino Alberti [Italie] ; Lucia Grillo [Italie] ; Carmela Scuderi [Italie] ; Magnus Nordenskjöld [Suède] ; Malin Kvarnung [Suède] ; Hui Guo [République populaire de Chine] ; Kun Xia [République populaire de Chine] ; Amélie Piton [France] ; Bénédicte Gerard [France] ; David Genevieve [France] ; Bruno Delobel [France] ; Daphne Lehalle [France] ; Laurence Perrin [France] ; Fabienne Prieur [France] ; Julien Thevenon [France] ; Jozef Gecz [Australie] ; Marie Shaw [Australie] ; Rolph Pfundt [Pays-Bas] ; Boris Keren [France] ; Aurelia Jacquette [France] ; Annette Schenck [Pays-Bas] ; Evan E. Eichler [États-Unis] ; Tjitske Kleefstra [Pays-Bas]Source :
- American journal of human genetics [ 1537-6605 ] ; 2016.
Descripteurs français
- KwdFr :
- Adolescent, Adulte, Animaux, Drosophila (génétique), Déficience intellectuelle (diagnostic), Déficience intellectuelle (génétique), Enfant, Enfant d'âge préscolaire, Exome, Facteurs de transcription (génétique), Facteurs de transcription (métabolisme), Femelle, Humains, Microcéphalie (diagnostic), Microcéphalie (génétique), Modèles linéaires, Mutation, Mâle, Nourrisson, Phénotype, Protéines de Drosophila (génétique), Protéines de Drosophila (métabolisme), Régulation négative, Techniques de knock-down de gènes, Transposases (génétique), Trouble du spectre autistique (diagnostic), Trouble du spectre autistique (génétique), Troubles du développement du langage (diagnostic), Troubles du développement du langage (génétique), Étude d'association pangénomique, Études de cohortes.
- MESH :
- diagnostic : Déficience intellectuelle, Microcéphalie, Trouble du spectre autistique, Troubles du développement du langage.
- génétique : Drosophila, Déficience intellectuelle, Facteurs de transcription, Microcéphalie, Protéines de Drosophila, Transposases, Trouble du spectre autistique, Troubles du développement du langage.
- métabolisme : Facteurs de transcription, Protéines de Drosophila.
- Adolescent, Adulte, Animaux, Enfant, Enfant d'âge préscolaire, Exome, Femelle, Humains, Modèles linéaires, Mutation, Mâle, Nourrisson, Phénotype, Régulation négative, Techniques de knock-down de gènes, Étude d'association pangénomique, Études de cohortes.
English descriptors
- KwdEn :
- Adolescent, Adult, Animals, Autism Spectrum Disorder (diagnosis), Autism Spectrum Disorder (genetics), Child, Child, Preschool, Cohort Studies, Down-Regulation, Drosophila (genetics), Drosophila Proteins (genetics), Drosophila Proteins (metabolism), Exome, Female, Gene Knockdown Techniques, Genome-Wide Association Study, Humans, Infant, Intellectual Disability (diagnosis), Intellectual Disability (genetics), Language Development Disorders (diagnosis), Language Development Disorders (genetics), Linear Models, Male, Microcephaly (diagnosis), Microcephaly (genetics), Mutation, Phenotype, Transcription Factors (genetics), Transcription Factors (metabolism), Transposases (genetics).
- MESH :
- chemical , genetics : Drosophila Proteins, Transcription Factors, Transposases.
- diagnosis : Autism Spectrum Disorder, Intellectual Disability, Language Development Disorders, Microcephaly.
- genetics : Autism Spectrum Disorder, Drosophila, Intellectual Disability, Language Development Disorders, Microcephaly.
- chemical , metabolism : Drosophila Proteins, Transcription Factors.
- Adolescent, Adult, Animals, Child, Child, Preschool, Cohort Studies, Down-Regulation, Exome, Female, Gene Knockdown Techniques, Genome-Wide Association Study, Humans, Infant, Linear Models, Male, Mutation, Phenotype.
Abstract
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 POGZ 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 POGZ 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(-13); 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 POGZ 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 POGZ, particularly in the cerebellum and pituitary, early in fetal brain development. We conducted parallel studies in Drosophila by inducing conditional knockdown of the POGZ ortholog row, further confirming that dosage of POGZ, specifically in neurons, is essential for normal learning in a habituation paradigm. Combined, the data underscore the pathogenicity of loss-of-function mutations in POGZ and define a POGZ-related phenotype enriched in specific features.
DOI: 10.1016/j.ajhg.2016.02.004
PubMed: 26942287
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<author><name sortKey="Brunner, Han G" sort="Brunner, Han G" uniqKey="Brunner H" first="Han G" last="Brunner">Han G. Brunner</name>
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<author><name sortKey="Stumpel, Connie" sort="Stumpel, Connie" uniqKey="Stumpel C" first="Connie" last="Stumpel">Connie Stumpel</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Clinical Genetics, Maastricht University Medical Center+, 6229 HX Maastricht, the Netherlands.</nlm:affiliation>
<country xml:lang="fr" wicri:curation="lc">Pays-Bas</country>
<wicri:regionArea>Department of Clinical Genetics, Maastricht University Medical Center+, 6229 HX Maastricht</wicri:regionArea>
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<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>
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<country xml:lang="fr" wicri:curation="lc">Pays-Bas</country>
<wicri:regionArea>Department of Clinical Genetics, Maastricht University Medical Center+, 6229 HX Maastricht</wicri:regionArea>
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<country xml:lang="fr" wicri:curation="lc">Pays-Bas</country>
<wicri:regionArea>Department of Neurologie, Maastricht University Medical Center+, 6229 HX Maastricht</wicri:regionArea>
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<author><name sortKey="Marcelis, Carlo M" sort="Marcelis, Carlo M" uniqKey="Marcelis C" first="Carlo M" last="Marcelis">Carlo M. Marcelis</name>
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<country xml:lang="fr" wicri:curation="lc">Pays-Bas</country>
<wicri:regionArea>Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen</wicri:regionArea>
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<author><name sortKey="Van Bokhoven, Hans" sort="Van Bokhoven, Hans" uniqKey="Van Bokhoven H" first="Hans" last="Van Bokhoven">Hans Van Bokhoven</name>
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<country xml:lang="fr" wicri:curation="lc">Pays-Bas</country>
<wicri:regionArea>Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6500 HB Nijmegen</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Cantagrel, Vincent" sort="Cantagrel, Vincent" uniqKey="Cantagrel V" first="Vincent" last="Cantagrel">Vincent Cantagrel</name>
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<country xml:lang="fr">France</country>
<wicri:regionArea>INSERM UMR 1163, Laboratory of Molecular and Pathophysiological Bases of Cognitive Disorders, Imagine Institute, 75015 Paris, France; Paris Descartes University - Sorbonne Paris Cité, Imagine Institute, 75015 Paris</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Colleaux, Laurence" sort="Colleaux, Laurence" uniqKey="Colleaux L" first="Laurence" last="Colleaux">Laurence Colleaux</name>
<affiliation wicri:level="1"><nlm:affiliation>INSERM UMR 1163, Laboratory of Molecular and Pathophysiological Bases of Cognitive Disorders, Imagine Institute, 75015 Paris, France; Paris Descartes University - Sorbonne Paris Cité, Imagine Institute, 75015 Paris, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>INSERM UMR 1163, Laboratory of Molecular and Pathophysiological Bases of Cognitive Disorders, Imagine Institute, 75015 Paris, France; Paris Descartes University - Sorbonne Paris Cité, Imagine Institute, 75015 Paris</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Nicouleau, Michael" sort="Nicouleau, Michael" uniqKey="Nicouleau M" first="Michael" last="Nicouleau">Michael Nicouleau</name>
<affiliation wicri:level="1"><nlm:affiliation>INSERM UMR 1163, Laboratory of Molecular and Pathophysiological Bases of Cognitive Disorders, Imagine Institute, 75015 Paris, France; Paris Descartes University - Sorbonne Paris Cité, Imagine Institute, 75015 Paris, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>INSERM UMR 1163, Laboratory of Molecular and Pathophysiological Bases of Cognitive Disorders, Imagine Institute, 75015 Paris, France; Paris Descartes University - Sorbonne Paris Cité, Imagine Institute, 75015 Paris</wicri:regionArea>
</affiliation>
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<author><name sortKey="Lyonnet, Stanislas" sort="Lyonnet, Stanislas" uniqKey="Lyonnet S" first="Stanislas" last="Lyonnet">Stanislas Lyonnet</name>
<affiliation wicri:level="1"><nlm:affiliation>INSERM UMR 1163, Laboratory of Molecular and Pathophysiological Bases of Cognitive Disorders, Imagine Institute, 75015 Paris, France; Paris Descartes University - Sorbonne Paris Cité, Imagine Institute, 75015 Paris, France; Departments of Genetics, Hôpital Necker - Enfants Malades, Assistance Publique - Hôpitaux de Paris, 75015 Paris, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>INSERM UMR 1163, Laboratory of Molecular and Pathophysiological Bases of Cognitive Disorders, Imagine Institute, 75015 Paris, France; Paris Descartes University - Sorbonne Paris Cité, Imagine Institute, 75015 Paris, France; Departments of Genetics, Hôpital Necker - Enfants Malades, Assistance Publique - Hôpitaux de Paris, 75015 Paris</wicri:regionArea>
</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 wicri:level="1"><nlm:affiliation>Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, WA 98105, USA.</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, WA 98105</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Gerdts, Jennifer" sort="Gerdts, Jennifer" uniqKey="Gerdts J" first="Jennifer" last="Gerdts">Jennifer Gerdts</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, WA 98105, USA.</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, WA 98105</wicri:regionArea>
</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 wicri:level="1"><nlm:affiliation>Department of Genome Sciences, University of Washington, Seattle, WA 98105, USA.</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Genome Sciences, University of Washington, Seattle, WA 98105</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Romano, Corrado" sort="Romano, Corrado" uniqKey="Romano C" first="Corrado" last="Romano">Corrado Romano</name>
<affiliation wicri:level="1"><nlm:affiliation>Pediatrics & Medical Genetics, Istituto di Ricovero e Cura a Carattere Scientifico Associazione Oasi Maria Santissima, 94018 Troina, Italy.</nlm:affiliation>
<country xml:lang="fr">Italie</country>
<wicri:regionArea>Pediatrics & Medical Genetics, Istituto di Ricovero e Cura a Carattere Scientifico Associazione Oasi Maria Santissima, 94018 Troina</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Alberti, Antonino" sort="Alberti, Antonino" uniqKey="Alberti A" first="Antonino" last="Alberti">Antonino Alberti</name>
<affiliation wicri:level="1"><nlm:affiliation>Pediatrics & Medical Genetics, Istituto di Ricovero e Cura a Carattere Scientifico Associazione Oasi Maria Santissima, 94018 Troina, Italy.</nlm:affiliation>
<country xml:lang="fr">Italie</country>
<wicri:regionArea>Pediatrics & Medical Genetics, Istituto di Ricovero e Cura a Carattere Scientifico Associazione Oasi Maria Santissima, 94018 Troina</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Grillo, Lucia" sort="Grillo, Lucia" uniqKey="Grillo L" first="Lucia" last="Grillo">Lucia Grillo</name>
<affiliation wicri:level="1"><nlm:affiliation>Laboratory of Medical Genetics, Istituto di Ricovero e Cura a Carattere Scientifico Associazione Oasi Maria Santissima, 94018 Troina, Italy.</nlm:affiliation>
<country xml:lang="fr">Italie</country>
<wicri:regionArea>Laboratory of Medical Genetics, Istituto di Ricovero e Cura a Carattere Scientifico Associazione Oasi Maria Santissima, 94018 Troina</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Scuderi, Carmela" sort="Scuderi, Carmela" uniqKey="Scuderi C" first="Carmela" last="Scuderi">Carmela Scuderi</name>
<affiliation wicri:level="1"><nlm:affiliation>Neuromuscular Diseases Unit, Istituto di Ricovero e Cura a Carattere Scientifico Associazione Oasi Maria Santissima, 94018 Troina, Italy.</nlm:affiliation>
<country xml:lang="fr">Italie</country>
<wicri:regionArea>Neuromuscular Diseases Unit, Istituto di Ricovero e Cura a Carattere Scientifico Associazione Oasi Maria Santissima, 94018 Troina</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Nordenskjold, Magnus" sort="Nordenskjold, Magnus" uniqKey="Nordenskjold M" first="Magnus" last="Nordenskjöld">Magnus Nordenskjöld</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, 171 77 Solna, Sweden.</nlm:affiliation>
<country xml:lang="fr">Suède</country>
<wicri:regionArea>Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, 171 77 Solna</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Kvarnung, Malin" sort="Kvarnung, Malin" uniqKey="Kvarnung M" first="Malin" last="Kvarnung">Malin Kvarnung</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, 171 77 Solna, Sweden.</nlm:affiliation>
<country xml:lang="fr">Suède</country>
<wicri:regionArea>Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, 171 77 Solna</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Guo, Hui" sort="Guo, Hui" uniqKey="Guo H" first="Hui" last="Guo">Hui Guo</name>
<affiliation wicri:level="1"><nlm:affiliation>The State Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan 410078, China.</nlm:affiliation>
<country xml:lang="fr">République populaire de Chine</country>
<wicri:regionArea>The State Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan 410078</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Xia, Kun" sort="Xia, Kun" uniqKey="Xia K" first="Kun" last="Xia">Kun Xia</name>
<affiliation wicri:level="1"><nlm:affiliation>The State Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan 410078, China.</nlm:affiliation>
<country xml:lang="fr">République populaire de Chine</country>
<wicri:regionArea>The State Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan 410078</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Piton, Amelie" sort="Piton, Amelie" uniqKey="Piton A" first="Amélie" last="Piton">Amélie Piton</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Translational Medicine and Neurogenetics, Institut Génétique Biologie Moléculaire Cellulaire, 67400 Illkirch, France; Laboratoire de Diagnostic Génétique, Hôpitaux Universitaires de Strasbourg, 67000 Strasbourg, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>Department of Translational Medicine and Neurogenetics, Institut Génétique Biologie Moléculaire Cellulaire, 67400 Illkirch, France; Laboratoire de Diagnostic Génétique, Hôpitaux Universitaires de Strasbourg, 67000 Strasbourg</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Gerard, Benedicte" sort="Gerard, Benedicte" uniqKey="Gerard B" first="Bénédicte" last="Gerard">Bénédicte Gerard</name>
<affiliation wicri:level="1"><nlm:affiliation>Laboratoire de Diagnostic Génétique, Hôpitaux Universitaires de Strasbourg, 67000 Strasbourg, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>Laboratoire de Diagnostic Génétique, Hôpitaux Universitaires de Strasbourg, 67000 Strasbourg</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Genevieve, David" sort="Genevieve, David" uniqKey="Genevieve D" first="David" last="Genevieve">David Genevieve</name>
<affiliation wicri:level="1"><nlm:affiliation>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:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>Département de Génétique Médicale, Centre de Référence Maladies Rares Anomalies du Développement et Syndromes Malformatifs Sud-Languedoc Roussillon, Hôpital Arnaud de Villeneuve, 34090 Montpellier</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Delobel, Bruno" sort="Delobel, Bruno" uniqKey="Delobel B" first="Bruno" last="Delobel">Bruno Delobel</name>
<affiliation wicri:level="1"><nlm:affiliation>Centre de Génétique Chromosomique, Hôpital Saint Vincent de Paul, Groupement des Hôpitaux de l'Institut Catholique de Lille, 59000 Lille, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>Centre de Génétique Chromosomique, Hôpital Saint Vincent de Paul, Groupement des Hôpitaux de l'Institut Catholique de Lille, 59000 Lille</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Lehalle, Daphne" sort="Lehalle, Daphne" uniqKey="Lehalle D" first="Daphne" last="Lehalle">Daphne Lehalle</name>
<affiliation wicri:level="1"><nlm:affiliation>Équipe EA4271-GAD, Centre de Référence Anomalies du Développement et Syndromes Malformatifs de l'Est, Fédération Hospitalo-Universitaire TRANSLAD, 21079 Dijon, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>Équipe EA4271-GAD, Centre de Référence Anomalies du Développement et Syndromes Malformatifs de l'Est, Fédération Hospitalo-Universitaire TRANSLAD, 21079 Dijon</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Perrin, Laurence" sort="Perrin, Laurence" uniqKey="Perrin L" first="Laurence" last="Perrin">Laurence Perrin</name>
<affiliation wicri:level="1"><nlm:affiliation>Service de Génétique Clinique, Hôpital Robert Debré, 75019 Paris, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>Service de Génétique Clinique, Hôpital Robert Debré, 75019 Paris</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Prieur, Fabienne" sort="Prieur, Fabienne" uniqKey="Prieur F" first="Fabienne" last="Prieur">Fabienne Prieur</name>
<affiliation wicri:level="1"><nlm:affiliation>Service de Génétique Clinique Chromosomique et Moléculaire, Centre Hospitalier Universitaire de Saint-Étienne, 42100 Saint-Étienne, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>Service de Génétique Clinique Chromosomique et Moléculaire, Centre Hospitalier Universitaire de Saint-Étienne, 42100 Saint-Étienne</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Thevenon, Julien" sort="Thevenon, Julien" uniqKey="Thevenon J" first="Julien" last="Thevenon">Julien Thevenon</name>
<affiliation wicri:level="1"><nlm:affiliation>Équipe EA4271-GAD, Centre de Référence Anomalies du Développement et Syndromes Malformatifs de l'Est, Fédération Hospitalo-Universitaire TRANSLAD, 21079 Dijon, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>Équipe EA4271-GAD, Centre de Référence Anomalies du Développement et Syndromes Malformatifs de l'Est, Fédération Hospitalo-Universitaire TRANSLAD, 21079 Dijon</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Gecz, Jozef" sort="Gecz, Jozef" uniqKey="Gecz J" first="Jozef" last="Gecz">Jozef Gecz</name>
<affiliation wicri:level="1"><nlm:affiliation>Robinson Research Institute, University of Adelaide and Women's and Children's Hospital, North Adelaide SA 5006, Australia.</nlm:affiliation>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Robinson Research Institute, University of Adelaide and Women's and Children's Hospital, North Adelaide SA 5006</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Shaw, Marie" sort="Shaw, Marie" uniqKey="Shaw M" first="Marie" last="Shaw">Marie Shaw</name>
<affiliation wicri:level="1"><nlm:affiliation>Robinson Research Institute, University of Adelaide and Women's and Children's Hospital, North Adelaide SA 5006, Australia.</nlm:affiliation>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Robinson Research Institute, University of Adelaide and Women's and Children's Hospital, North Adelaide SA 5006</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Pfundt, Rolph" sort="Pfundt, Rolph" uniqKey="Pfundt R" first="Rolph" last="Pfundt">Rolph Pfundt</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands.</nlm:affiliation>
<country xml:lang="fr" wicri:curation="lc">Pays-Bas</country>
<wicri:regionArea>Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Keren, Boris" sort="Keren, Boris" uniqKey="Keren B" first="Boris" last="Keren">Boris Keren</name>
<affiliation wicri:level="1"><nlm:affiliation>Département de Génétique, Hôpital de la Pitié-Salpêtrière, Assistance Publique - Hôpitaux de Paris, 75013 Paris, France; 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:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>Département de Génétique, Hôpital de la Pitié-Salpêtrière, Assistance Publique - Hôpitaux de Paris, 75013 Paris, France; INSERM UM75 and U1127, CNRS UMR7225, Université Pierre et Marie Curie (Paris 6) and Institut du Cerveau et de la Moelle épinière, 75013 Paris</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Jacquette, Aurelia" sort="Jacquette, Aurelia" uniqKey="Jacquette A" first="Aurelia" last="Jacquette">Aurelia Jacquette</name>
<affiliation wicri:level="1"><nlm:affiliation>Département de Génétique, Hôpital de la Pitié-Salpêtrière, Assistance Publique - Hôpitaux de Paris, 75013 Paris, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>Département de Génétique, Hôpital de la Pitié-Salpêtrière, Assistance Publique - Hôpitaux de Paris, 75013 Paris</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Schenck, Annette" sort="Schenck, Annette" uniqKey="Schenck A" first="Annette" last="Schenck">Annette Schenck</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands.</nlm:affiliation>
<country xml:lang="fr" wicri:curation="lc">Pays-Bas</country>
<wicri:regionArea>Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6500 HB Nijmegen</wicri:regionArea>
</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 wicri:level="1"><nlm:affiliation>Department of Genome Sciences, University of Washington, Seattle, WA 98105, USA; Howard Hughes Medical Institute, Seattle, WA 98195, USA. Electronic address: eee@gs.washington.edu.</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Genome Sciences, University of Washington, Seattle, WA 98105, USA; Howard Hughes Medical Institute, Seattle, WA 98195</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Kleefstra, Tjitske" sort="Kleefstra, Tjitske" uniqKey="Kleefstra T" first="Tjitske" last="Kleefstra">Tjitske Kleefstra</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands.</nlm:affiliation>
<country xml:lang="fr" wicri:curation="lc">Pays-Bas</country>
<wicri:regionArea>Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6500 HB Nijmegen</wicri:regionArea>
</affiliation>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">PubMed</idno>
<date when="2016">2016</date>
<idno type="RBID">pubmed:26942287</idno>
<idno type="pmid">26942287</idno>
<idno type="doi">10.1016/j.ajhg.2016.02.004</idno>
<idno type="wicri:Area/PubMed/Corpus">002119</idno>
<idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">002119</idno>
<idno type="wicri:Area/PubMed/Curation">002093</idno>
<idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Curation">002093</idno>
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<sourceDesc><biblStruct><analytic><title xml:lang="en">Disruption of POGZ 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 wicri:level="1"><nlm:affiliation>Department of Genome Sciences, University of Washington, Seattle, WA 98105, USA.</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Genome Sciences, University of Washington, Seattle, WA 98105</wicri:regionArea>
</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 wicri:level="1"><nlm:affiliation>Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands. Electronic address: marjolein.willemsen@radboudumc.nl.</nlm:affiliation>
<country xml:lang="fr" wicri:curation="lc">Pays-Bas</country>
<wicri:regionArea>Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6500 HB Nijmegen</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Fenckova, Michaela" sort="Fenckova, Michaela" uniqKey="Fenckova M" first="Michaela" last="Fenckova">Michaela Fenckova</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands.</nlm:affiliation>
<country xml:lang="fr" wicri:curation="lc">Pays-Bas</country>
<wicri:regionArea>Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6500 HB Nijmegen</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Penn, Osnat" sort="Penn, Osnat" uniqKey="Penn O" first="Osnat" last="Penn">Osnat Penn</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Genome Sciences, University of Washington, Seattle, WA 98105, USA.</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Genome Sciences, University of Washington, Seattle, WA 98105</wicri:regionArea>
</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:affiliation>Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands.</nlm:affiliation>
<country xml:lang="fr" wicri:curation="lc">Pays-Bas</country>
<wicri:regionArea>Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6500 HB Nijmegen</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Xiong, Bo" sort="Xiong, Bo" uniqKey="Xiong B" first="Bo" last="Xiong">Bo Xiong</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Genome Sciences, University of Washington, Seattle, WA 98105, USA.</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Genome Sciences, University of Washington, Seattle, WA 98105</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Wang, Tianyun" sort="Wang, Tianyun" uniqKey="Wang T" first="Tianyun" last="Wang">Tianyun Wang</name>
<affiliation wicri:level="1"><nlm:affiliation>The State Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan 410078, China.</nlm:affiliation>
<country xml:lang="fr">République populaire de Chine</country>
<wicri:regionArea>The State Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan 410078</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Hoekzema, Kendra" sort="Hoekzema, Kendra" uniqKey="Hoekzema K" first="Kendra" last="Hoekzema">Kendra Hoekzema</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Genome Sciences, University of Washington, Seattle, WA 98105, USA.</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Genome Sciences, University of Washington, Seattle, WA 98105</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Vives, Laura" sort="Vives, Laura" uniqKey="Vives L" first="Laura" last="Vives">Laura Vives</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Genome Sciences, University of Washington, Seattle, WA 98105, USA.</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Genome Sciences, University of Washington, Seattle, WA 98105</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Vogel, Ida" sort="Vogel, Ida" uniqKey="Vogel I" first="Ida" last="Vogel">Ida Vogel</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Clinical Genetics, Aarhus University Hospital, Skejby, 8000 Aarhus, Denmark.</nlm:affiliation>
<country xml:lang="fr">Danemark</country>
<wicri:regionArea>Department of Clinical Genetics, Aarhus University Hospital, Skejby, 8000 Aarhus</wicri:regionArea>
</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:affiliation>Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands; Department of Clinical Genetics, Maastricht University Medical Center+, 6229 HX Maastricht, the Netherlands.</nlm:affiliation>
<country xml:lang="fr" wicri:curation="lc">Pays-Bas</country>
<wicri:regionArea>Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands; Department of Clinical Genetics, Maastricht University Medical Center+, 6229 HX Maastricht</wicri:regionArea>
</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 wicri:level="1"><nlm:affiliation>Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands.</nlm:affiliation>
<country xml:lang="fr" wicri:curation="lc">Pays-Bas</country>
<wicri:regionArea>Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen</wicri:regionArea>
</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 wicri:level="1"><nlm:affiliation>Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands.</nlm:affiliation>
<country xml:lang="fr" wicri:curation="lc">Pays-Bas</country>
<wicri:regionArea>Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen</wicri:regionArea>
</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 wicri:level="1"><nlm:affiliation>Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands.</nlm:affiliation>
<country xml:lang="fr" wicri:curation="lc">Pays-Bas</country>
<wicri:regionArea>Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen</wicri:regionArea>
</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 wicri:level="1"><nlm:affiliation>Department of Genetics, University of Groningen and University Medical Center Groningen, 9700 RB Groningen, the Netherlands.</nlm:affiliation>
<country xml:lang="fr" wicri:curation="lc">Pays-Bas</country>
<wicri:regionArea>Department of Genetics, University of Groningen and University Medical Center Groningen, 9700 RB Groningen</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Stumpel, Connie" sort="Stumpel, Connie" uniqKey="Stumpel C" first="Connie" last="Stumpel">Connie Stumpel</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Clinical Genetics, Maastricht University Medical Center+, 6229 HX Maastricht, the Netherlands.</nlm:affiliation>
<country xml:lang="fr" wicri:curation="lc">Pays-Bas</country>
<wicri:regionArea>Department of Clinical Genetics, Maastricht University Medical Center+, 6229 HX Maastricht</wicri:regionArea>
</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 wicri:level="1"><nlm:affiliation>Department of Clinical Genetics, Maastricht University Medical Center+, 6229 HX Maastricht, the Netherlands.</nlm:affiliation>
<country xml:lang="fr" wicri:curation="lc">Pays-Bas</country>
<wicri:regionArea>Department of Clinical Genetics, Maastricht University Medical Center+, 6229 HX Maastricht</wicri:regionArea>
</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 wicri:level="1"><nlm:affiliation>Department of Neurologie, Maastricht University Medical Center+, 6229 HX Maastricht, the Netherlands.</nlm:affiliation>
<country xml:lang="fr" wicri:curation="lc">Pays-Bas</country>
<wicri:regionArea>Department of Neurologie, Maastricht University Medical Center+, 6229 HX Maastricht</wicri:regionArea>
</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 wicri:level="1"><nlm:affiliation>Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands.</nlm:affiliation>
<country xml:lang="fr" wicri:curation="lc">Pays-Bas</country>
<wicri:regionArea>Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen</wicri:regionArea>
</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 wicri:level="1"><nlm:affiliation>Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands.</nlm:affiliation>
<country xml:lang="fr" wicri:curation="lc">Pays-Bas</country>
<wicri:regionArea>Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6500 HB Nijmegen</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Cantagrel, Vincent" sort="Cantagrel, Vincent" uniqKey="Cantagrel V" first="Vincent" last="Cantagrel">Vincent Cantagrel</name>
<affiliation wicri:level="1"><nlm:affiliation>INSERM UMR 1163, Laboratory of Molecular and Pathophysiological Bases of Cognitive Disorders, Imagine Institute, 75015 Paris, France; Paris Descartes University - Sorbonne Paris Cité, Imagine Institute, 75015 Paris, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>INSERM UMR 1163, Laboratory of Molecular and Pathophysiological Bases of Cognitive Disorders, Imagine Institute, 75015 Paris, France; Paris Descartes University - Sorbonne Paris Cité, Imagine Institute, 75015 Paris</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Colleaux, Laurence" sort="Colleaux, Laurence" uniqKey="Colleaux L" first="Laurence" last="Colleaux">Laurence Colleaux</name>
<affiliation wicri:level="1"><nlm:affiliation>INSERM UMR 1163, Laboratory of Molecular and Pathophysiological Bases of Cognitive Disorders, Imagine Institute, 75015 Paris, France; Paris Descartes University - Sorbonne Paris Cité, Imagine Institute, 75015 Paris, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>INSERM UMR 1163, Laboratory of Molecular and Pathophysiological Bases of Cognitive Disorders, Imagine Institute, 75015 Paris, France; Paris Descartes University - Sorbonne Paris Cité, Imagine Institute, 75015 Paris</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Nicouleau, Michael" sort="Nicouleau, Michael" uniqKey="Nicouleau M" first="Michael" last="Nicouleau">Michael Nicouleau</name>
<affiliation wicri:level="1"><nlm:affiliation>INSERM UMR 1163, Laboratory of Molecular and Pathophysiological Bases of Cognitive Disorders, Imagine Institute, 75015 Paris, France; Paris Descartes University - Sorbonne Paris Cité, Imagine Institute, 75015 Paris, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>INSERM UMR 1163, Laboratory of Molecular and Pathophysiological Bases of Cognitive Disorders, Imagine Institute, 75015 Paris, France; Paris Descartes University - Sorbonne Paris Cité, Imagine Institute, 75015 Paris</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Lyonnet, Stanislas" sort="Lyonnet, Stanislas" uniqKey="Lyonnet S" first="Stanislas" last="Lyonnet">Stanislas Lyonnet</name>
<affiliation wicri:level="1"><nlm:affiliation>INSERM UMR 1163, Laboratory of Molecular and Pathophysiological Bases of Cognitive Disorders, Imagine Institute, 75015 Paris, France; Paris Descartes University - Sorbonne Paris Cité, Imagine Institute, 75015 Paris, France; Departments of Genetics, Hôpital Necker - Enfants Malades, Assistance Publique - Hôpitaux de Paris, 75015 Paris, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>INSERM UMR 1163, Laboratory of Molecular and Pathophysiological Bases of Cognitive Disorders, Imagine Institute, 75015 Paris, France; Paris Descartes University - Sorbonne Paris Cité, Imagine Institute, 75015 Paris, France; Departments of Genetics, Hôpital Necker - Enfants Malades, Assistance Publique - Hôpitaux de Paris, 75015 Paris</wicri:regionArea>
</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 wicri:level="1"><nlm:affiliation>Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, WA 98105, USA.</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, WA 98105</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Gerdts, Jennifer" sort="Gerdts, Jennifer" uniqKey="Gerdts J" first="Jennifer" last="Gerdts">Jennifer Gerdts</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, WA 98105, USA.</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, WA 98105</wicri:regionArea>
</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 wicri:level="1"><nlm:affiliation>Department of Genome Sciences, University of Washington, Seattle, WA 98105, USA.</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Genome Sciences, University of Washington, Seattle, WA 98105</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Romano, Corrado" sort="Romano, Corrado" uniqKey="Romano C" first="Corrado" last="Romano">Corrado Romano</name>
<affiliation wicri:level="1"><nlm:affiliation>Pediatrics & Medical Genetics, Istituto di Ricovero e Cura a Carattere Scientifico Associazione Oasi Maria Santissima, 94018 Troina, Italy.</nlm:affiliation>
<country xml:lang="fr">Italie</country>
<wicri:regionArea>Pediatrics & Medical Genetics, Istituto di Ricovero e Cura a Carattere Scientifico Associazione Oasi Maria Santissima, 94018 Troina</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Alberti, Antonino" sort="Alberti, Antonino" uniqKey="Alberti A" first="Antonino" last="Alberti">Antonino Alberti</name>
<affiliation wicri:level="1"><nlm:affiliation>Pediatrics & Medical Genetics, Istituto di Ricovero e Cura a Carattere Scientifico Associazione Oasi Maria Santissima, 94018 Troina, Italy.</nlm:affiliation>
<country xml:lang="fr">Italie</country>
<wicri:regionArea>Pediatrics & Medical Genetics, Istituto di Ricovero e Cura a Carattere Scientifico Associazione Oasi Maria Santissima, 94018 Troina</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Grillo, Lucia" sort="Grillo, Lucia" uniqKey="Grillo L" first="Lucia" last="Grillo">Lucia Grillo</name>
<affiliation wicri:level="1"><nlm:affiliation>Laboratory of Medical Genetics, Istituto di Ricovero e Cura a Carattere Scientifico Associazione Oasi Maria Santissima, 94018 Troina, Italy.</nlm:affiliation>
<country xml:lang="fr">Italie</country>
<wicri:regionArea>Laboratory of Medical Genetics, Istituto di Ricovero e Cura a Carattere Scientifico Associazione Oasi Maria Santissima, 94018 Troina</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Scuderi, Carmela" sort="Scuderi, Carmela" uniqKey="Scuderi C" first="Carmela" last="Scuderi">Carmela Scuderi</name>
<affiliation wicri:level="1"><nlm:affiliation>Neuromuscular Diseases Unit, Istituto di Ricovero e Cura a Carattere Scientifico Associazione Oasi Maria Santissima, 94018 Troina, Italy.</nlm:affiliation>
<country xml:lang="fr">Italie</country>
<wicri:regionArea>Neuromuscular Diseases Unit, Istituto di Ricovero e Cura a Carattere Scientifico Associazione Oasi Maria Santissima, 94018 Troina</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Nordenskjold, Magnus" sort="Nordenskjold, Magnus" uniqKey="Nordenskjold M" first="Magnus" last="Nordenskjöld">Magnus Nordenskjöld</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, 171 77 Solna, Sweden.</nlm:affiliation>
<country xml:lang="fr">Suède</country>
<wicri:regionArea>Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, 171 77 Solna</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Kvarnung, Malin" sort="Kvarnung, Malin" uniqKey="Kvarnung M" first="Malin" last="Kvarnung">Malin Kvarnung</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, 171 77 Solna, Sweden.</nlm:affiliation>
<country xml:lang="fr">Suède</country>
<wicri:regionArea>Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, 171 77 Solna</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Guo, Hui" sort="Guo, Hui" uniqKey="Guo H" first="Hui" last="Guo">Hui Guo</name>
<affiliation wicri:level="1"><nlm:affiliation>The State Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan 410078, China.</nlm:affiliation>
<country xml:lang="fr">République populaire de Chine</country>
<wicri:regionArea>The State Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan 410078</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Xia, Kun" sort="Xia, Kun" uniqKey="Xia K" first="Kun" last="Xia">Kun Xia</name>
<affiliation wicri:level="1"><nlm:affiliation>The State Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan 410078, China.</nlm:affiliation>
<country xml:lang="fr">République populaire de Chine</country>
<wicri:regionArea>The State Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan 410078</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Piton, Amelie" sort="Piton, Amelie" uniqKey="Piton A" first="Amélie" last="Piton">Amélie Piton</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Translational Medicine and Neurogenetics, Institut Génétique Biologie Moléculaire Cellulaire, 67400 Illkirch, France; Laboratoire de Diagnostic Génétique, Hôpitaux Universitaires de Strasbourg, 67000 Strasbourg, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>Department of Translational Medicine and Neurogenetics, Institut Génétique Biologie Moléculaire Cellulaire, 67400 Illkirch, France; Laboratoire de Diagnostic Génétique, Hôpitaux Universitaires de Strasbourg, 67000 Strasbourg</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Gerard, Benedicte" sort="Gerard, Benedicte" uniqKey="Gerard B" first="Bénédicte" last="Gerard">Bénédicte Gerard</name>
<affiliation wicri:level="1"><nlm:affiliation>Laboratoire de Diagnostic Génétique, Hôpitaux Universitaires de Strasbourg, 67000 Strasbourg, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>Laboratoire de Diagnostic Génétique, Hôpitaux Universitaires de Strasbourg, 67000 Strasbourg</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Genevieve, David" sort="Genevieve, David" uniqKey="Genevieve D" first="David" last="Genevieve">David Genevieve</name>
<affiliation wicri:level="1"><nlm:affiliation>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:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>Département de Génétique Médicale, Centre de Référence Maladies Rares Anomalies du Développement et Syndromes Malformatifs Sud-Languedoc Roussillon, Hôpital Arnaud de Villeneuve, 34090 Montpellier</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Delobel, Bruno" sort="Delobel, Bruno" uniqKey="Delobel B" first="Bruno" last="Delobel">Bruno Delobel</name>
<affiliation wicri:level="1"><nlm:affiliation>Centre de Génétique Chromosomique, Hôpital Saint Vincent de Paul, Groupement des Hôpitaux de l'Institut Catholique de Lille, 59000 Lille, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>Centre de Génétique Chromosomique, Hôpital Saint Vincent de Paul, Groupement des Hôpitaux de l'Institut Catholique de Lille, 59000 Lille</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Lehalle, Daphne" sort="Lehalle, Daphne" uniqKey="Lehalle D" first="Daphne" last="Lehalle">Daphne Lehalle</name>
<affiliation wicri:level="1"><nlm:affiliation>Équipe EA4271-GAD, Centre de Référence Anomalies du Développement et Syndromes Malformatifs de l'Est, Fédération Hospitalo-Universitaire TRANSLAD, 21079 Dijon, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>Équipe EA4271-GAD, Centre de Référence Anomalies du Développement et Syndromes Malformatifs de l'Est, Fédération Hospitalo-Universitaire TRANSLAD, 21079 Dijon</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Perrin, Laurence" sort="Perrin, Laurence" uniqKey="Perrin L" first="Laurence" last="Perrin">Laurence Perrin</name>
<affiliation wicri:level="1"><nlm:affiliation>Service de Génétique Clinique, Hôpital Robert Debré, 75019 Paris, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>Service de Génétique Clinique, Hôpital Robert Debré, 75019 Paris</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Prieur, Fabienne" sort="Prieur, Fabienne" uniqKey="Prieur F" first="Fabienne" last="Prieur">Fabienne Prieur</name>
<affiliation wicri:level="1"><nlm:affiliation>Service de Génétique Clinique Chromosomique et Moléculaire, Centre Hospitalier Universitaire de Saint-Étienne, 42100 Saint-Étienne, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>Service de Génétique Clinique Chromosomique et Moléculaire, Centre Hospitalier Universitaire de Saint-Étienne, 42100 Saint-Étienne</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Thevenon, Julien" sort="Thevenon, Julien" uniqKey="Thevenon J" first="Julien" last="Thevenon">Julien Thevenon</name>
<affiliation wicri:level="1"><nlm:affiliation>Équipe EA4271-GAD, Centre de Référence Anomalies du Développement et Syndromes Malformatifs de l'Est, Fédération Hospitalo-Universitaire TRANSLAD, 21079 Dijon, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>Équipe EA4271-GAD, Centre de Référence Anomalies du Développement et Syndromes Malformatifs de l'Est, Fédération Hospitalo-Universitaire TRANSLAD, 21079 Dijon</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Gecz, Jozef" sort="Gecz, Jozef" uniqKey="Gecz J" first="Jozef" last="Gecz">Jozef Gecz</name>
<affiliation wicri:level="1"><nlm:affiliation>Robinson Research Institute, University of Adelaide and Women's and Children's Hospital, North Adelaide SA 5006, Australia.</nlm:affiliation>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Robinson Research Institute, University of Adelaide and Women's and Children's Hospital, North Adelaide SA 5006</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Shaw, Marie" sort="Shaw, Marie" uniqKey="Shaw M" first="Marie" last="Shaw">Marie Shaw</name>
<affiliation wicri:level="1"><nlm:affiliation>Robinson Research Institute, University of Adelaide and Women's and Children's Hospital, North Adelaide SA 5006, Australia.</nlm:affiliation>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Robinson Research Institute, University of Adelaide and Women's and Children's Hospital, North Adelaide SA 5006</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Pfundt, Rolph" sort="Pfundt, Rolph" uniqKey="Pfundt R" first="Rolph" last="Pfundt">Rolph Pfundt</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands.</nlm:affiliation>
<country xml:lang="fr" wicri:curation="lc">Pays-Bas</country>
<wicri:regionArea>Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Keren, Boris" sort="Keren, Boris" uniqKey="Keren B" first="Boris" last="Keren">Boris Keren</name>
<affiliation wicri:level="1"><nlm:affiliation>Département de Génétique, Hôpital de la Pitié-Salpêtrière, Assistance Publique - Hôpitaux de Paris, 75013 Paris, France; 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:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>Département de Génétique, Hôpital de la Pitié-Salpêtrière, Assistance Publique - Hôpitaux de Paris, 75013 Paris, France; INSERM UM75 and U1127, CNRS UMR7225, Université Pierre et Marie Curie (Paris 6) and Institut du Cerveau et de la Moelle épinière, 75013 Paris</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Jacquette, Aurelia" sort="Jacquette, Aurelia" uniqKey="Jacquette A" first="Aurelia" last="Jacquette">Aurelia Jacquette</name>
<affiliation wicri:level="1"><nlm:affiliation>Département de Génétique, Hôpital de la Pitié-Salpêtrière, Assistance Publique - Hôpitaux de Paris, 75013 Paris, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>Département de Génétique, Hôpital de la Pitié-Salpêtrière, Assistance Publique - Hôpitaux de Paris, 75013 Paris</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Schenck, Annette" sort="Schenck, Annette" uniqKey="Schenck A" first="Annette" last="Schenck">Annette Schenck</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands.</nlm:affiliation>
<country xml:lang="fr" wicri:curation="lc">Pays-Bas</country>
<wicri:regionArea>Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6500 HB Nijmegen</wicri:regionArea>
</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 wicri:level="1"><nlm:affiliation>Department of Genome Sciences, University of Washington, Seattle, WA 98105, USA; Howard Hughes Medical Institute, Seattle, WA 98195, USA. Electronic address: eee@gs.washington.edu.</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Genome Sciences, University of Washington, Seattle, WA 98105, USA; Howard Hughes Medical Institute, Seattle, WA 98195</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Kleefstra, Tjitske" sort="Kleefstra, Tjitske" uniqKey="Kleefstra T" first="Tjitske" last="Kleefstra">Tjitske Kleefstra</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands.</nlm:affiliation>
<country xml:lang="fr" wicri:curation="lc">Pays-Bas</country>
<wicri:regionArea>Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6500 HB Nijmegen</wicri:regionArea>
</affiliation>
</author>
</analytic>
<series><title level="j">American journal of human genetics</title>
<idno type="eISSN">1537-6605</idno>
<imprint><date when="2016" type="published">2016</date>
</imprint>
</series>
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<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adolescent</term>
<term>Adult</term>
<term>Animals</term>
<term>Autism Spectrum Disorder (diagnosis)</term>
<term>Autism Spectrum Disorder (genetics)</term>
<term>Child</term>
<term>Child, Preschool</term>
<term>Cohort Studies</term>
<term>Down-Regulation</term>
<term>Drosophila (genetics)</term>
<term>Drosophila Proteins (genetics)</term>
<term>Drosophila Proteins (metabolism)</term>
<term>Exome</term>
<term>Female</term>
<term>Gene Knockdown Techniques</term>
<term>Genome-Wide Association Study</term>
<term>Humans</term>
<term>Infant</term>
<term>Intellectual Disability (diagnosis)</term>
<term>Intellectual Disability (genetics)</term>
<term>Language Development Disorders (diagnosis)</term>
<term>Language Development Disorders (genetics)</term>
<term>Linear Models</term>
<term>Male</term>
<term>Microcephaly (diagnosis)</term>
<term>Microcephaly (genetics)</term>
<term>Mutation</term>
<term>Phenotype</term>
<term>Transcription Factors (genetics)</term>
<term>Transcription Factors (metabolism)</term>
<term>Transposases (genetics)</term>
</keywords>
<keywords scheme="KwdFr" xml:lang="fr"><term>Adolescent</term>
<term>Adulte</term>
<term>Animaux</term>
<term>Drosophila (génétique)</term>
<term>Déficience intellectuelle (diagnostic)</term>
<term>Déficience intellectuelle (génétique)</term>
<term>Enfant</term>
<term>Enfant d'âge préscolaire</term>
<term>Exome</term>
<term>Facteurs de transcription (génétique)</term>
<term>Facteurs de transcription (métabolisme)</term>
<term>Femelle</term>
<term>Humains</term>
<term>Microcéphalie (diagnostic)</term>
<term>Microcéphalie (génétique)</term>
<term>Modèles linéaires</term>
<term>Mutation</term>
<term>Mâle</term>
<term>Nourrisson</term>
<term>Phénotype</term>
<term>Protéines de Drosophila (génétique)</term>
<term>Protéines de Drosophila (métabolisme)</term>
<term>Régulation négative</term>
<term>Techniques de knock-down de gènes</term>
<term>Transposases (génétique)</term>
<term>Trouble du spectre autistique (diagnostic)</term>
<term>Trouble du spectre autistique (génétique)</term>
<term>Troubles du développement du langage (diagnostic)</term>
<term>Troubles du développement du langage (génétique)</term>
<term>Étude d'association pangénomique</term>
<term>Études de cohortes</term>
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<term>Transcription Factors</term>
<term>Transposases</term>
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<keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Autism Spectrum Disorder</term>
<term>Intellectual Disability</term>
<term>Language Development Disorders</term>
<term>Microcephaly</term>
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<keywords scheme="MESH" qualifier="diagnostic" xml:lang="fr"><term>Déficience intellectuelle</term>
<term>Microcéphalie</term>
<term>Trouble du spectre autistique</term>
<term>Troubles du développement du langage</term>
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<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Autism Spectrum Disorder</term>
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<term>Intellectual Disability</term>
<term>Language Development Disorders</term>
<term>Microcephaly</term>
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<keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Drosophila</term>
<term>Déficience intellectuelle</term>
<term>Facteurs de transcription</term>
<term>Microcéphalie</term>
<term>Protéines de Drosophila</term>
<term>Transposases</term>
<term>Trouble du spectre autistique</term>
<term>Troubles du développement du langage</term>
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<keywords scheme="MESH" type="chemical" qualifier="metabolism" xml:lang="en"><term>Drosophila Proteins</term>
<term>Transcription Factors</term>
</keywords>
<keywords scheme="MESH" qualifier="métabolisme" xml:lang="fr"><term>Facteurs de transcription</term>
<term>Protéines de Drosophila</term>
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<keywords scheme="MESH" xml:lang="en"><term>Adolescent</term>
<term>Adult</term>
<term>Animals</term>
<term>Child</term>
<term>Child, Preschool</term>
<term>Cohort Studies</term>
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<term>Exome</term>
<term>Female</term>
<term>Gene Knockdown Techniques</term>
<term>Genome-Wide Association Study</term>
<term>Humans</term>
<term>Infant</term>
<term>Linear Models</term>
<term>Male</term>
<term>Mutation</term>
<term>Phenotype</term>
</keywords>
<keywords scheme="MESH" xml:lang="fr"><term>Adolescent</term>
<term>Adulte</term>
<term>Animaux</term>
<term>Enfant</term>
<term>Enfant d'âge préscolaire</term>
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<term>Femelle</term>
<term>Humains</term>
<term>Modèles linéaires</term>
<term>Mutation</term>
<term>Mâle</term>
<term>Nourrisson</term>
<term>Phénotype</term>
<term>Régulation négative</term>
<term>Techniques de knock-down de gènes</term>
<term>Étude d'association pangénomique</term>
<term>Études de cohortes</term>
</keywords>
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</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en">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 POGZ 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 POGZ 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(-13); 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 POGZ 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 POGZ, particularly in the cerebellum and pituitary, early in fetal brain development. We conducted parallel studies in Drosophila by inducing conditional knockdown of the POGZ ortholog row, further confirming that dosage of POGZ, specifically in neurons, is essential for normal learning in a habituation paradigm. Combined, the data underscore the pathogenicity of loss-of-function mutations in POGZ and define a POGZ-related phenotype enriched in specific features.</div>
</front>
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<pubmed><MedlineCitation Status="MEDLINE" Owner="NLM"><PMID Version="1">26942287</PMID>
<DateCreated><Year>2016</Year>
<Month>03</Month>
<Day>05</Day>
</DateCreated>
<DateCompleted><Year>2016</Year>
<Month>07</Month>
<Day>25</Day>
</DateCompleted>
<DateRevised><Year>2017</Year>
<Month>09</Month>
<Day>01</Day>
</DateRevised>
<Article PubModel="Print"><Journal><ISSN IssnType="Electronic">1537-6605</ISSN>
<JournalIssue CitedMedium="Internet"><Volume>98</Volume>
<Issue>3</Issue>
<PubDate><Year>2016</Year>
<Month>Mar</Month>
<Day>03</Day>
</PubDate>
</JournalIssue>
<Title>American journal of human genetics</Title>
<ISOAbbreviation>Am. J. Hum. Genet.</ISOAbbreviation>
</Journal>
<ArticleTitle>Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders.</ArticleTitle>
<Pagination><MedlinePgn>541-552</MedlinePgn>
</Pagination>
<ELocationID EIdType="pii" ValidYN="Y">S0002-9297(16)00055-0</ELocationID>
<ELocationID EIdType="doi" ValidYN="Y">10.1016/j.ajhg.2016.02.004</ELocationID>
<Abstract><AbstractText>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 POGZ 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 POGZ 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(-13); 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 POGZ 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 POGZ, particularly in the cerebellum and pituitary, early in fetal brain development. We conducted parallel studies in Drosophila by inducing conditional knockdown of the POGZ ortholog row, further confirming that dosage of POGZ, specifically in neurons, is essential for normal learning in a habituation paradigm. Combined, the data underscore the pathogenicity of loss-of-function mutations in POGZ and define a POGZ-related phenotype enriched in specific features.</AbstractText>
<CopyrightInformation>Copyright © 2016 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.</CopyrightInformation>
</Abstract>
<AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Stessman</LastName>
<ForeName>Holly A F</ForeName>
<Initials>HAF</Initials>
<AffiliationInfo><Affiliation>Department of Genome Sciences, University of Washington, Seattle, WA 98105, USA.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Willemsen</LastName>
<ForeName>Marjolein H</ForeName>
<Initials>MH</Initials>
<AffiliationInfo><Affiliation>Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands. Electronic address: marjolein.willemsen@radboudumc.nl.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Fenckova</LastName>
<ForeName>Michaela</ForeName>
<Initials>M</Initials>
<AffiliationInfo><Affiliation>Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Penn</LastName>
<ForeName>Osnat</ForeName>
<Initials>O</Initials>
<AffiliationInfo><Affiliation>Department of Genome Sciences, University of Washington, Seattle, WA 98105, USA.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Hoischen</LastName>
<ForeName>Alexander</ForeName>
<Initials>A</Initials>
<AffiliationInfo><Affiliation>Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Xiong</LastName>
<ForeName>Bo</ForeName>
<Initials>B</Initials>
<AffiliationInfo><Affiliation>Department of Genome Sciences, University of Washington, Seattle, WA 98105, USA.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Wang</LastName>
<ForeName>Tianyun</ForeName>
<Initials>T</Initials>
<AffiliationInfo><Affiliation>The State Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan 410078, China.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Hoekzema</LastName>
<ForeName>Kendra</ForeName>
<Initials>K</Initials>
<AffiliationInfo><Affiliation>Department of Genome Sciences, University of Washington, Seattle, WA 98105, USA.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Vives</LastName>
<ForeName>Laura</ForeName>
<Initials>L</Initials>
<AffiliationInfo><Affiliation>Department of Genome Sciences, University of Washington, Seattle, WA 98105, USA.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Vogel</LastName>
<ForeName>Ida</ForeName>
<Initials>I</Initials>
<AffiliationInfo><Affiliation>Department of Clinical Genetics, Aarhus University Hospital, Skejby, 8000 Aarhus, Denmark.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Brunner</LastName>
<ForeName>Han G</ForeName>
<Initials>HG</Initials>
<AffiliationInfo><Affiliation>Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands; Department of Clinical Genetics, Maastricht University Medical Center+, 6229 HX Maastricht, the Netherlands.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>van der Burgt</LastName>
<ForeName>Ineke</ForeName>
<Initials>I</Initials>
<AffiliationInfo><Affiliation>Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Ockeloen</LastName>
<ForeName>Charlotte W</ForeName>
<Initials>CW</Initials>
<AffiliationInfo><Affiliation>Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Schuurs-Hoeijmakers</LastName>
<ForeName>Janneke H</ForeName>
<Initials>JH</Initials>
<AffiliationInfo><Affiliation>Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Klein Wassink-Ruiter</LastName>
<ForeName>Jolien S</ForeName>
<Initials>JS</Initials>
<AffiliationInfo><Affiliation>Department of Genetics, University of Groningen and University Medical Center Groningen, 9700 RB Groningen, the Netherlands.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Stumpel</LastName>
<ForeName>Connie</ForeName>
<Initials>C</Initials>
<AffiliationInfo><Affiliation>Department of Clinical Genetics, Maastricht University Medical Center+, 6229 HX Maastricht, the Netherlands.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Stevens</LastName>
<ForeName>Servi J C</ForeName>
<Initials>SJC</Initials>
<AffiliationInfo><Affiliation>Department of Clinical Genetics, Maastricht University Medical Center+, 6229 HX Maastricht, the Netherlands.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Vles</LastName>
<ForeName>Hans S</ForeName>
<Initials>HS</Initials>
<AffiliationInfo><Affiliation>Department of Neurologie, Maastricht University Medical Center+, 6229 HX Maastricht, the Netherlands.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Marcelis</LastName>
<ForeName>Carlo M</ForeName>
<Initials>CM</Initials>
<AffiliationInfo><Affiliation>Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>van Bokhoven</LastName>
<ForeName>Hans</ForeName>
<Initials>H</Initials>
<AffiliationInfo><Affiliation>Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Cantagrel</LastName>
<ForeName>Vincent</ForeName>
<Initials>V</Initials>
<AffiliationInfo><Affiliation>INSERM UMR 1163, Laboratory of Molecular and Pathophysiological Bases of Cognitive Disorders, Imagine Institute, 75015 Paris, France; Paris Descartes University - Sorbonne Paris Cité, Imagine Institute, 75015 Paris, France.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Colleaux</LastName>
<ForeName>Laurence</ForeName>
<Initials>L</Initials>
<AffiliationInfo><Affiliation>INSERM UMR 1163, Laboratory of Molecular and Pathophysiological Bases of Cognitive Disorders, Imagine Institute, 75015 Paris, France; Paris Descartes University - Sorbonne Paris Cité, Imagine Institute, 75015 Paris, France.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Nicouleau</LastName>
<ForeName>Michael</ForeName>
<Initials>M</Initials>
<AffiliationInfo><Affiliation>INSERM UMR 1163, Laboratory of Molecular and Pathophysiological Bases of Cognitive Disorders, Imagine Institute, 75015 Paris, France; Paris Descartes University - Sorbonne Paris Cité, Imagine Institute, 75015 Paris, France.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Lyonnet</LastName>
<ForeName>Stanislas</ForeName>
<Initials>S</Initials>
<AffiliationInfo><Affiliation>INSERM UMR 1163, Laboratory of Molecular and Pathophysiological Bases of Cognitive Disorders, Imagine Institute, 75015 Paris, France; Paris Descartes University - Sorbonne Paris Cité, Imagine Institute, 75015 Paris, France; Departments of Genetics, Hôpital Necker - Enfants Malades, Assistance Publique - Hôpitaux de Paris, 75015 Paris, France.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Bernier</LastName>
<ForeName>Raphael A</ForeName>
<Initials>RA</Initials>
<AffiliationInfo><Affiliation>Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, WA 98105, USA.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Gerdts</LastName>
<ForeName>Jennifer</ForeName>
<Initials>J</Initials>
<AffiliationInfo><Affiliation>Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, WA 98105, USA.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Coe</LastName>
<ForeName>Bradley P</ForeName>
<Initials>BP</Initials>
<AffiliationInfo><Affiliation>Department of Genome Sciences, University of Washington, Seattle, WA 98105, USA.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Romano</LastName>
<ForeName>Corrado</ForeName>
<Initials>C</Initials>
<AffiliationInfo><Affiliation>Pediatrics & Medical Genetics, Istituto di Ricovero e Cura a Carattere Scientifico Associazione Oasi Maria Santissima, 94018 Troina, Italy.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Alberti</LastName>
<ForeName>Antonino</ForeName>
<Initials>A</Initials>
<AffiliationInfo><Affiliation>Pediatrics & Medical Genetics, Istituto di Ricovero e Cura a Carattere Scientifico Associazione Oasi Maria Santissima, 94018 Troina, Italy.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Grillo</LastName>
<ForeName>Lucia</ForeName>
<Initials>L</Initials>
<AffiliationInfo><Affiliation>Laboratory of Medical Genetics, Istituto di Ricovero e Cura a Carattere Scientifico Associazione Oasi Maria Santissima, 94018 Troina, Italy.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Scuderi</LastName>
<ForeName>Carmela</ForeName>
<Initials>C</Initials>
<AffiliationInfo><Affiliation>Neuromuscular Diseases Unit, Istituto di Ricovero e Cura a Carattere Scientifico Associazione Oasi Maria Santissima, 94018 Troina, Italy.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Nordenskjöld</LastName>
<ForeName>Magnus</ForeName>
<Initials>M</Initials>
<AffiliationInfo><Affiliation>Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, 171 77 Solna, Sweden.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Kvarnung</LastName>
<ForeName>Malin</ForeName>
<Initials>M</Initials>
<AffiliationInfo><Affiliation>Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, 171 77 Solna, Sweden.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Guo</LastName>
<ForeName>Hui</ForeName>
<Initials>H</Initials>
<AffiliationInfo><Affiliation>The State Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan 410078, China.</Affiliation>
</AffiliationInfo>
</Author>
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<ForeName>Kun</ForeName>
<Initials>K</Initials>
<AffiliationInfo><Affiliation>The State Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan 410078, China.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Piton</LastName>
<ForeName>Amélie</ForeName>
<Initials>A</Initials>
<AffiliationInfo><Affiliation>Department of Translational Medicine and Neurogenetics, Institut Génétique Biologie Moléculaire Cellulaire, 67400 Illkirch, France; Laboratoire de Diagnostic Génétique, Hôpitaux Universitaires de Strasbourg, 67000 Strasbourg, France.</Affiliation>
</AffiliationInfo>
</Author>
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<ForeName>Bénédicte</ForeName>
<Initials>B</Initials>
<AffiliationInfo><Affiliation>Laboratoire de Diagnostic Génétique, Hôpitaux Universitaires de Strasbourg, 67000 Strasbourg, France.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Genevieve</LastName>
<ForeName>David</ForeName>
<Initials>D</Initials>
<AffiliationInfo><Affiliation>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.</Affiliation>
</AffiliationInfo>
</Author>
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<ForeName>Bruno</ForeName>
<Initials>B</Initials>
<AffiliationInfo><Affiliation>Centre de Génétique Chromosomique, Hôpital Saint Vincent de Paul, Groupement des Hôpitaux de l'Institut Catholique de Lille, 59000 Lille, France.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Lehalle</LastName>
<ForeName>Daphne</ForeName>
<Initials>D</Initials>
<AffiliationInfo><Affiliation>Équipe EA4271-GAD, Centre de Référence Anomalies du Développement et Syndromes Malformatifs de l'Est, Fédération Hospitalo-Universitaire TRANSLAD, 21079 Dijon, France.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Perrin</LastName>
<ForeName>Laurence</ForeName>
<Initials>L</Initials>
<AffiliationInfo><Affiliation>Service de Génétique Clinique, Hôpital Robert Debré, 75019 Paris, France.</Affiliation>
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</Author>
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<ForeName>Fabienne</ForeName>
<Initials>F</Initials>
<AffiliationInfo><Affiliation>Service de Génétique Clinique Chromosomique et Moléculaire, Centre Hospitalier Universitaire de Saint-Étienne, 42100 Saint-Étienne, France.</Affiliation>
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</Author>
<Author ValidYN="Y"><LastName>Thevenon</LastName>
<ForeName>Julien</ForeName>
<Initials>J</Initials>
<AffiliationInfo><Affiliation>Équipe EA4271-GAD, Centre de Référence Anomalies du Développement et Syndromes Malformatifs de l'Est, Fédération Hospitalo-Universitaire TRANSLAD, 21079 Dijon, France.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Gecz</LastName>
<ForeName>Jozef</ForeName>
<Initials>J</Initials>
<AffiliationInfo><Affiliation>Robinson Research Institute, University of Adelaide and Women's and Children's Hospital, North Adelaide SA 5006, Australia.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Shaw</LastName>
<ForeName>Marie</ForeName>
<Initials>M</Initials>
<AffiliationInfo><Affiliation>Robinson Research Institute, University of Adelaide and Women's and Children's Hospital, North Adelaide SA 5006, Australia.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Pfundt</LastName>
<ForeName>Rolph</ForeName>
<Initials>R</Initials>
<AffiliationInfo><Affiliation>Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Keren</LastName>
<ForeName>Boris</ForeName>
<Initials>B</Initials>
<AffiliationInfo><Affiliation>Département de Génétique, Hôpital de la Pitié-Salpêtrière, Assistance Publique - Hôpitaux de Paris, 75013 Paris, France; 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.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Jacquette</LastName>
<ForeName>Aurelia</ForeName>
<Initials>A</Initials>
<AffiliationInfo><Affiliation>Département de Génétique, Hôpital de la Pitié-Salpêtrière, Assistance Publique - Hôpitaux de Paris, 75013 Paris, France.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Schenck</LastName>
<ForeName>Annette</ForeName>
<Initials>A</Initials>
<AffiliationInfo><Affiliation>Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Eichler</LastName>
<ForeName>Evan E</ForeName>
<Initials>EE</Initials>
<AffiliationInfo><Affiliation>Department of Genome Sciences, University of Washington, Seattle, WA 98105, USA; Howard Hughes Medical Institute, Seattle, WA 98195, USA. Electronic address: eee@gs.washington.edu.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Kleefstra</LastName>
<ForeName>Tjitske</ForeName>
<Initials>T</Initials>
<AffiliationInfo><Affiliation>Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands.</Affiliation>
</AffiliationInfo>
</Author>
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<Language>eng</Language>
<GrantList CompleteYN="Y"><Grant><GrantID>R01 MH100047</GrantID>
<Acronym>MH</Acronym>
<Agency>NIMH NIH HHS</Agency>
<Country>United States</Country>
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<Grant><GrantID>R01 MH101221</GrantID>
<Acronym>MH</Acronym>
<Agency>NIMH NIH HHS</Agency>
<Country>United States</Country>
</Grant>
<Grant><GrantID>T32 HG000035</GrantID>
<Acronym>HG</Acronym>
<Agency>NHGRI NIH HHS</Agency>
<Country>United States</Country>
</Grant>
<Grant><GrantID>U54 HD083091</GrantID>
<Acronym>HD</Acronym>
<Agency>NICHD NIH HHS</Agency>
<Country>United States</Country>
</Grant>
</GrantList>
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</PublicationTypeList>
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<MedlineJournalInfo><Country>United States</Country>
<MedlineTA>Am J Hum Genet</MedlineTA>
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<ISSNLinking>0002-9297</ISSNLinking>
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<NameOfSubstance UI="C535217">relative-of-WOC protein, Drosophila</NameOfSubstance>
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<Chemical><RegistryNumber>EC 2.7.7.-</RegistryNumber>
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<CitationSubset>IM</CitationSubset>
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