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De Novo and Inherited Pathogenic Variants in KDM3B Cause Intellectual Disability, Short Stature, and Facial Dysmorphism.

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Title: De Novo and Inherited Pathogenic Variants in KDM3B Cause Intellectual Disability, Short Stature, and Facial Dysmorphism.
Authors: Diets IJ; Department of Human Genetics, Radboud University Medical Center, 6525GA Nijmegen, the Netherlands., van der Donk R; Department of Human Genetics, Radboud University Medical Center, 6525GA Nijmegen, the Netherlands; Princess Máxima Center for Pediatric Oncology, 3584CS Utrecht, the Netherlands., Baltrunaite K; Division of Endocrinology, Cincinnati Center for Growth Disorders, Cincinnati Children's Hospital Medical Center, Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH 45229, USA., Waanders E; Princess Máxima Center for Pediatric Oncology, 3584CS Utrecht, the Netherlands., Reijnders MRF; Department of Human Genetics, Radboud University Medical Center, 6525GA Nijmegen, the Netherlands; Department of Clinical Genetics, Maastricht University Medical Center, 6229HX Maastricht, the Netherlands., Dingemans AJM; Department of Human Genetics, Radboud University Medical Center, 6525GA Nijmegen, the Netherlands., Pfundt R; Department of Human Genetics, Radboud University Medical Center, 6525GA Nijmegen, the Netherlands., Vulto-van Silfhout AT; Department of Human Genetics, Radboud University Medical Center, 6525GA Nijmegen, the Netherlands., Wiel L; Department of Human Genetics, Radboud University Medical Center, 6525GA Nijmegen, the Netherlands; Centre for Molecular and Biomolecular Informatics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, 6525GA Nijmegen, the Netherlands., Gilissen C; Department of Human Genetics, Radboud University Medical Center, 6525GA Nijmegen, the Netherlands; Centre for Molecular and Biomolecular Informatics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, 6525GA Nijmegen, the Netherlands., Thevenon J; Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs, Hôpital d'Enfants, Centre Hospitalier Universitaire de Dijon, 21079 Dijon, France; Equipe Génétique des Anomalies du Développement, Université de Bourgogne-France Comté, 21070 Dijon, France., Perrin L; Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs, Hôpital d'Enfants, Centre Hospitalier Universitaire de Dijon, 21079 Dijon, France., Afenjar A; APHP, Département de Génétique et Embryologie Médicale, Centre de Référence Déficiences Intellectuelles de Causes Rares, GRC n°19, ConCer-LD, Hôpital Armand Trousseau, 75012 Paris, France., Nava C; APHP, Hôpital Pitié-Salpêtrière, Département de Génétique, 75013, Paris, France; Sorbonne Universités, Institut du Cerveau et de la Moelle épinière, ICM, Institut National de la Santé et de la Recherche Médicale U1127, Centre National de la Recherche Scientifique UMR 7225, 75013, Paris, France., Keren B; APHP, Hôpital Pitié-Salpêtrière, Département de Génétique, 75013, Paris, France., Bartz S; Division of Endocrinology, Children's Hospital of Colorado, Aurora, CO 80045, USA., Peri B; Division of Endocrinology, Children's Hospital of Colorado, Aurora, CO 80045, USA., Beunders G; Department of Clinical Genetics, VU University Medical Center, 1081HV Amsterdam, the Netherlands., Verbeek N; Department of Genetics, University Medical Center Utrecht, 3508AB Utrecht, the Netherlands., van Gassen K; Department of Genetics, University Medical Center Utrecht, 3508AB Utrecht, the Netherlands., Thiffault I; Center for Pediatric Genomic Medicine, Children's Mercy Hospital, Kansas City, MO 66211, USA; Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, MO 66211, USA; University of Missouri, Kansas City School of Medicine, Kansas City, MO 66211, USA., Cadieux-Dion M; Center for Pediatric Genomic Medicine, Children's Mercy Hospital, Kansas City, MO 66211, USA; Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, MO 66211, USA., Huerta-Saenz L; Children's Mercy Hospital, Kansas City, MO 66211, USA; Division of Pediatric Endocrinology and Diabetes, Department of Pediatrics, Penn State Hershey Children's Hospital, Hershey, PA 17033, USA., Wagner M; Institute of Human Genetics, Technische Universität München, 80333 Munich, Germany; Institute for Neurogenomics, Helmholtz Zentrum München, 85764 Neuherberg, Germany; Institute for Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg, Germany., Konstantopoulou V; Department of Pediatrics and Adolescent Medicine, Medical University of Vienna, 1090 Vienna, Austria., Vodopiutz J; Department of Pediatrics and Adolescent Medicine, Medical University of Vienna, 1090 Vienna, Austria., Griese M; Dr. von Hauner Children's Hospital, Division of Pediatric Pneumology, University Hospital Munich, German Center for Lung Research, 80333 Munich, Germany., Boel A; Center for Medical Genetics, Ghent University Hospital, 9000 Ghent, Belgium., Callewaert B; Center for Medical Genetics, Ghent University Hospital, 9000 Ghent, Belgium., Brunner HG; Department of Human Genetics, Radboud University Medical Center, 6525GA Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behavior, Radboud University Nijmegen, 6525GA Nijmegen, the Netherlands; Department of Clinical Genetics and School for Oncology & Developmental Biology (GROW), Maastricht University Medical Center, 6202AZ Maastricht, the Netherlands., Kleefstra T; Department of Human Genetics, Radboud University Medical Center, 6525GA Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behavior, Radboud University Nijmegen, 6525GA Nijmegen, the Netherlands., Hoogerbrugge N; Department of Human Genetics, Radboud University Medical Center, 6525GA Nijmegen, the Netherlands., de Vries BBA; Department of Human Genetics, Radboud University Medical Center, 6525GA Nijmegen, the Netherlands., Hwa V; Division of Endocrinology, Cincinnati Center for Growth Disorders, Cincinnati Children's Hospital Medical Center, Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH 45229, USA., Dauber A; Division of Endocrinology, Cincinnati Center for Growth Disorders, Cincinnati Children's Hospital Medical Center, Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH 45229, USA; Division of Endocrinology, Children's National Health System, Washington, DC 20010, USA., Hehir-Kwa JY; Princess Máxima Center for Pediatric Oncology, 3584CS Utrecht, the Netherlands., Kuiper RP; Department of Human Genetics, Radboud University Medical Center, 6525GA Nijmegen, the Netherlands; Princess Máxima Center for Pediatric Oncology, 3584CS Utrecht, the Netherlands., Jongmans MCJ; Department of Human Genetics, Radboud University Medical Center, 6525GA Nijmegen, the Netherlands; Princess Máxima Center for Pediatric Oncology, 3584CS Utrecht, the Netherlands; Department of Genetics, University Medical Center Utrecht, 3508AB Utrecht, the Netherlands. Electronic address: m.c.j.jongmans-3@umcutrecht.nl.
Source: American journal of human genetics [Am J Hum Genet] 2019 Apr 04; Vol. 104 (4), pp. 758-766. Date of Electronic Publication: 2019 Mar 28.
Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: De Novo and Inherited Pathogenic Variants in KDM3B Cause Intellectual Disability, Short Stature, and Facial Dysmorphism.
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  Data: <searchLink fieldCode="AU" term="%22Diets+IJ%22">Diets IJ</searchLink>; Department of Human Genetics, Radboud University Medical Center, 6525GA Nijmegen, the Netherlands.<br /><searchLink fieldCode="AU" term="%22van+der+Donk+R%22">van der Donk R</searchLink>; Department of Human Genetics, Radboud University Medical Center, 6525GA Nijmegen, the Netherlands; Princess Máxima Center for Pediatric Oncology, 3584CS Utrecht, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Baltrunaite+K%22">Baltrunaite K</searchLink>; Division of Endocrinology, Cincinnati Center for Growth Disorders, Cincinnati Children's Hospital Medical Center, Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH 45229, USA.<br /><searchLink fieldCode="AU" term="%22Waanders+E%22">Waanders E</searchLink>; Princess Máxima Center for Pediatric Oncology, 3584CS Utrecht, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Reijnders+MRF%22">Reijnders MRF</searchLink>; Department of Human Genetics, Radboud University Medical Center, 6525GA Nijmegen, the Netherlands; Department of Clinical Genetics, Maastricht University Medical Center, 6229HX Maastricht, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Dingemans+AJM%22">Dingemans AJM</searchLink>; Department of Human Genetics, Radboud University Medical Center, 6525GA Nijmegen, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Pfundt+R%22">Pfundt R</searchLink>; Department of Human Genetics, Radboud University Medical Center, 6525GA Nijmegen, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Vulto-van+Silfhout+AT%22">Vulto-van Silfhout AT</searchLink>; Department of Human Genetics, Radboud University Medical Center, 6525GA Nijmegen, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Wiel+L%22">Wiel L</searchLink>; Department of Human Genetics, Radboud University Medical Center, 6525GA Nijmegen, the Netherlands; Centre for Molecular and Biomolecular Informatics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, 6525GA Nijmegen, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Gilissen+C%22">Gilissen C</searchLink>; Department of Human Genetics, Radboud University Medical Center, 6525GA Nijmegen, the Netherlands; Centre for Molecular and Biomolecular Informatics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, 6525GA Nijmegen, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Thevenon+J%22">Thevenon J</searchLink>; Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs, Hôpital d'Enfants, Centre Hospitalier Universitaire de Dijon, 21079 Dijon, France; Equipe Génétique des Anomalies du Développement, Université de Bourgogne-France Comté, 21070 Dijon, France.<br /><searchLink fieldCode="AU" term="%22Perrin+L%22">Perrin L</searchLink>; Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs, Hôpital d'Enfants, Centre Hospitalier Universitaire de Dijon, 21079 Dijon, France.<br /><searchLink fieldCode="AU" term="%22Afenjar+A%22">Afenjar A</searchLink>; APHP, Département de Génétique et Embryologie Médicale, Centre de Référence Déficiences Intellectuelles de Causes Rares, GRC n°19, ConCer-LD, Hôpital Armand Trousseau, 75012 Paris, France.<br /><searchLink fieldCode="AU" term="%22Nava+C%22">Nava C</searchLink>; APHP, Hôpital Pitié-Salpêtrière, Département de Génétique, 75013, Paris, France; Sorbonne Universités, Institut du Cerveau et de la Moelle épinière, ICM, Institut National de la Santé et de la Recherche Médicale U1127, Centre National de la Recherche Scientifique UMR 7225, 75013, Paris, France.<br /><searchLink fieldCode="AU" term="%22Keren+B%22">Keren B</searchLink>; APHP, Hôpital Pitié-Salpêtrière, Département de Génétique, 75013, Paris, France.<br /><searchLink fieldCode="AU" term="%22Bartz+S%22">Bartz S</searchLink>; Division of Endocrinology, Children's Hospital of Colorado, Aurora, CO 80045, USA.<br /><searchLink fieldCode="AU" term="%22Peri+B%22">Peri B</searchLink>; Division of Endocrinology, Children's Hospital of Colorado, Aurora, CO 80045, USA.<br /><searchLink fieldCode="AU" term="%22Beunders+G%22">Beunders G</searchLink>; Department of Clinical Genetics, VU University Medical Center, 1081HV Amsterdam, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Verbeek+N%22">Verbeek N</searchLink>; Department of Genetics, University Medical Center Utrecht, 3508AB Utrecht, the Netherlands.<br /><searchLink fieldCode="AU" term="%22van+Gassen+K%22">van Gassen K</searchLink>; Department of Genetics, University Medical Center Utrecht, 3508AB Utrecht, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Thiffault+I%22">Thiffault I</searchLink>; Center for Pediatric Genomic Medicine, Children's Mercy Hospital, Kansas City, MO 66211, USA; Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, MO 66211, USA; University of Missouri, Kansas City School of Medicine, Kansas City, MO 66211, USA.<br /><searchLink fieldCode="AU" term="%22Cadieux-Dion+M%22">Cadieux-Dion M</searchLink>; Center for Pediatric Genomic Medicine, Children's Mercy Hospital, Kansas City, MO 66211, USA; Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, MO 66211, USA.<br /><searchLink fieldCode="AU" term="%22Huerta-Saenz+L%22">Huerta-Saenz L</searchLink>; Children's Mercy Hospital, Kansas City, MO 66211, USA; Division of Pediatric Endocrinology and Diabetes, Department of Pediatrics, Penn State Hershey Children's Hospital, Hershey, PA 17033, USA.<br /><searchLink fieldCode="AU" term="%22Wagner+M%22">Wagner M</searchLink>; Institute of Human Genetics, Technische Universität München, 80333 Munich, Germany; Institute for Neurogenomics, Helmholtz Zentrum München, 85764 Neuherberg, Germany; Institute for Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg, Germany.<br /><searchLink fieldCode="AU" term="%22Konstantopoulou+V%22">Konstantopoulou V</searchLink>; Department of Pediatrics and Adolescent Medicine, Medical University of Vienna, 1090 Vienna, Austria.<br /><searchLink fieldCode="AU" term="%22Vodopiutz+J%22">Vodopiutz J</searchLink>; Department of Pediatrics and Adolescent Medicine, Medical University of Vienna, 1090 Vienna, Austria.<br /><searchLink fieldCode="AU" term="%22Griese+M%22">Griese M</searchLink>; Dr. von Hauner Children's Hospital, Division of Pediatric Pneumology, University Hospital Munich, German Center for Lung Research, 80333 Munich, Germany.<br /><searchLink fieldCode="AU" term="%22Boel+A%22">Boel A</searchLink>; Center for Medical Genetics, Ghent University Hospital, 9000 Ghent, Belgium.<br /><searchLink fieldCode="AU" term="%22Callewaert+B%22">Callewaert B</searchLink>; Center for Medical Genetics, Ghent University Hospital, 9000 Ghent, Belgium.<br /><searchLink fieldCode="AU" term="%22Brunner+HG%22">Brunner HG</searchLink>; Department of Human Genetics, Radboud University Medical Center, 6525GA Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behavior, Radboud University Nijmegen, 6525GA Nijmegen, the Netherlands; Department of Clinical Genetics and School for Oncology & Developmental Biology (GROW), Maastricht University Medical Center, 6202AZ Maastricht, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Kleefstra+T%22">Kleefstra T</searchLink>; Department of Human Genetics, Radboud University Medical Center, 6525GA Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behavior, Radboud University Nijmegen, 6525GA Nijmegen, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Hoogerbrugge+N%22">Hoogerbrugge N</searchLink>; 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Princess Máxima Center for Pediatric Oncology, 3584CS Utrecht, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Kuiper+RP%22">Kuiper RP</searchLink>; Department of Human Genetics, Radboud University Medical Center, 6525GA Nijmegen, the Netherlands; Princess Máxima Center for Pediatric Oncology, 3584CS Utrecht, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Jongmans+MCJ%22">Jongmans MCJ</searchLink>; Department of Human Genetics, Radboud University Medical Center, 6525GA Nijmegen, the Netherlands; Princess Máxima Center for Pediatric Oncology, 3584CS Utrecht, the Netherlands; Department of Genetics, University Medical Center Utrecht, 3508AB Utrecht, the Netherlands. 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