RESEARCH ARTICLE The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with constitutive variants de novo DNMT3A [version 1; referees: 3 approved] Katrina Tatton-Brown , Anna Zachariou , Chey Loveday , Anthony Renwick , Shazia Mahamdallie , Lise Aksglaede , Diana Baralle , Daniela Barge-Schaapveld , Moira Blyth , Mieke Bouma , Jeroen Breckpot , Beau Crabb , Tabib Dabir , Valerie Cormier-Daire , Christine Fauth , Richard Fisher , Blanca Gener , David Goudie , Tessa Homfray , Matthew Hunter , Agnete Jorgensen , Sarina G. Kant , Cathy Kirally-Borri , David Koolen , Ajith Kumar , Anatalia Labilloy , Melissa Lees , Carlo Marcelis , Catherine Mercer , Cyril Mignot , Kathryn Miller , Katherine Neas , Ruth Newbury-Ecob , Daniela T. Pilz , Renata Posmyk , Carlos Prada , Keri Ramsey , Linda M. Randolph , Angelo Selicorni , Deborah Shears , Mohnish Suri , I. Karen Temple , Peter Turnpenny , Lionel Val Maldergem , Vinod Varghese , Hermine E. Veenstra-Knol , Naomi Yachelevich , Laura Yates , Clinical Assessment of the Utility of Sequencing and Evaluation as a Service (CAUSES) Research Study, Deciphering Developmental Disorders (DDD) Study, Nazneen Rahman 1,42 Division of Genetics and Epidemiology, Institute of Cancer Research, London, UK South West Thames Regional Genetics Service, St George’s University Hospitals NHS Foundation Trust, London, UK St George’s University of London, London, UK Department of Clinical Genetics, Copenhagen University Hospital, Copenhagen, Denmark Human Genetics and Genomic Medicine, Faculty of Medicine, University of Southampton, Southhampton, UK Department of Clinical Genetics, Leiden University Medical Centre, Leiden, Netherlands Department of Clinical Genetics, Chapel Allerton Hospital, Leeds, UK Elver Intellectual Disability Centre, Nieuw Wehl, Netherlands Center for Human Genetics, University Hospitals and KU Leuven, Leuven, Belgium Genetics Department, Children's Hospitals and Clinics of Minneapolis, Minneapolis, MN, USA Northern Ireland Regional Genetics Centre, Clinical Genetics Service, Belfast City Hospital, Belfast, UK INSERM UMR1163, IMAGINE Institute affiliate, Paris, France Division of Human Genetics, Medical University Innsbruck, Innsbruck, Austria Teesside Genetics Unit, The James Cook University Hospital, Middlesbrough, UK Department of Genetics, Cruces University Hospital, Biocruces Health Research Institute, centro de Investigacion Biomedica en Red de Enfermedades Raras (CIBERER), Basque Country, Spain Department of Human Genetics, Ninewells Hospital and Medical School, Dundee, UK 1-3 1 1 1 1 4 5 6 7 8 9 10 11 12 13 14 15 16 2,3 17,18 19 6 20 21 22 23,24 22 21 5 25 26 27 28 29 30,31 23,24 32 33 34 35 36 5 37 38 39 40 41 14 1,42 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 Page 1 of 16 Wellcome Open Research 2018, 3:46 Last updated: 29 MAY 2018