Microduplications of ARID1A and ARID1B cause a novel clinical and epigenetic distinct BAFopathy.

Autor: van der Sluijs PJ; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands., Moutton S; CPDPN, Pôle mère enfant, Maison de Santé Protestante Bordeaux Bagatelle, Talence, France; Centre de Référence Anomalies du Développement et Syndromes Malformatifs, FHU TRANSLAD, CHU Dijon, Dijon, France., Dingemans AJM; Department of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands., Weis D; Institute of Medical Genetics, Kepler University Hospital Med Campus IV, Johannes Kepler University, Linz, Austria., Levy MA; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, Canada., Boycott KM; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, Canada; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada., Arberas C; Sección Genética Médica, Hospital de Niños Dr. Ricardo Gutiérrez, Buenos Aires, Argentina., Baldassarri M; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy; Medical Genetics, University of Siena, Siena, Italy., Beneteau C; Service de Génétique Médicale, Centre Hospitalier Universitaire de Nantes, Nantes, France; Centre Hospitalier Universitaire de Nantes, UF de Foetopathologie et Génétique, Nantes, France; Service de Génétique Médicale, Centre Hospitalier Universitaire de Bordeaux, Bordeaux, France., Brusco A; Department of Medical Sciences, University of Torino, Torino, Italy., Coutton C; Service de Génétique, Génomique, et Procréation, Centre Hospitalier Universitaire Grenoble Alpes, La Tronche, France; Inserm, CNRS UMR 5309, Institut pour l'Avancée des Biosciences (IAB), Université Grenoble Alpes, Grenoble, France., Dabir T; Department of Genetic Medicine, Belfast City Hospital, Belfast, Northern Ireland, United Kingdom., Dentici ML; Medical Genetics, IRCCS Bambino Gesù Children Hospital, Rome, Italy., Devriendt K; Center for Human Genetics, University Hospitals Leuven, Leuven, Belgium., Faivre L; Centre de Référence Anomalies du Développement et Syndromes Malformatifs, FHU TRANSLAD, CHU Dijon, Dijon, France; Genetics of Developmental Disorders, Inserm - Bourgogne Franche-Comté University, UMR 1231 GAD Team, Dijon, France., van Haelst MM; Section Clinical Genetics, Department of Human Genetics, Amsterdam University Medical Centers, Amsterdam, The Netherlands; Amsterdam Reproduction and Development, Amsterdam University Medical Centers, Amsterdam, The Netherlands., Jizi K; Department of Pediatrics, Université de Montréal, Montreal, QC, Canada; Centre de Recherche et Centre Hospitalier Universitaire Sainte-Justine, Montreal, QC, Canada., Kempers MJ; Department of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands., Kerkhof J; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, Canada., Kharbanda M; Wessex Clinical Genetics Service, University Hospital Southampton, Princess Anne Hospital, Southampton, United Kingdom., Lachlan K; Wessex Clinical Genetics Service, University Hospital Southampton, Princess Anne Hospital, Southampton, United Kingdom; Human Development and Health, Faculty of Medicine, University of Southampton, Southampton, United Kingdom., Marle N; Laboratoire de Génétique Chromosomique et Moléculaire, Pôle de Biologie, CHU de Dijon, Dijon, France., McConkey H; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, Canada; Department of Pathology and Laboratory Medicine, Western University, London, ON, Canada., Mencarelli MA; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy., Mowat D; Center for Clinical Genetics, Sydney Children's Hospital, Randwick, New South Wales, Australia; University of New South Wales, School of Women's and Children's Health, Faculty of Medicine and Health, Kensington, New South Wales, Australia., Niceta M; Molecular Genetics and Functional Genomics, Bambino Gesù Children Hospital, IRCCS, Rome, Italy., Nicolas C; Centre de Référence Anomalies du Développement et Syndromes Malformatifs, FHU TRANSLAD, CHU Dijon, Dijon, France; Genetics of Developmental Disorders, Inserm - Bourgogne Franche-Comté University, UMR 1231 GAD Team, Dijon, France., Novelli A; Translational Cytogenomics, IRCCS Bambino Gesù Children Hospital, Rome, Italy., Orlando V; Translational Cytogenomics, IRCCS Bambino Gesù Children Hospital, Rome, Italy., Pichon O; Service de Génétique Médicale, Centre Hospitalier Universitaire de Nantes, Nantes, France., Rankin J; Department of Clinical Genetics, Royal Devon and Exeter NHS Foundation Trust, Exeter, United Kingdom., Relator R; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, Canada., Ropers FG; Willem-Alexander Children's Hospital, Department of Pediatrics, Leiden University Medical Center, Leiden, The Netherlands., Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Baylor Genetics Laboratories, Houston, TX., Sachdev R; University of New South Wales, School of Women's and Children's Health, Faculty of Medicine and Health, Kensington, New South Wales, Australia; School of Women's and Children's Health, UNSW Medicine and Health, University of New South Wales, Sydney, New South Wales, Australia., Sandaradura SA; Sydney Children's Hospitals Network, Westmead, New South Wales, Australia; Children's Hospital Westmead Clinical School, University of Sydney, Sydney, New South Wales, Australia., Shukarova-Angelovska E; Department of Endocrinology and Genetics, University Clinic for Children's Diseases, Medical Faculty, University Sv. Kiril I Metodij, Skopje, Republic of North Macedonia., Steenbeek D; Department of Rehabilitation Medicine, Maastricht University Medical Center/Adelante, Rehabilitation, Maastricht, The Netherlands., Tartaglia M; Molecular Genetics and Functional Genomics, Bambino Gesù Children Hospital, IRCCS, Rome, Italy., Tedder MA; Greenwood Genetic Center, Greenwood, SC., Trajkova S; Department of Medical Sciences, University of Torino, Torino, Italy; Molecular Biotechnology Center 'Guido Tarone, ' University of Turin, Turin, Italy., Winer N; Service de Gynécologie-Obstétrique, Centre Hospitalier Universitaire de Nantes, Nantes, France; Nun, INRAE, Physiol, UMR1280 AN, Université de Nantes, Nantes, France., Woods J; Department of Genetics, Valley Children's Hospital, Madera, CA; Stanford University, Palo Alto, CA., de Vries BBA; Department of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands., Sadikovic B; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, Canada; Department of Pathology and Laboratory Medicine, Western University, London, ON, Canada., Alders M; Department of Human Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands., Santen GWE; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands. Electronic address: santen@lumc.nl.

Publikováno v: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2024 Sep 28; Vol. 27 (1), pp. 101283. Date of Electronic Publication: 2024 Sep 28.