Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies

Affiliations

• ¹ Institute of Human Genetics, Medical Faculty, University of Bonn, Bonn, 53127, Germany. [email protected].
• ² Institute of Anatomy and Cell Biology, Medical Faculty, University of Bonn, Bonn, 53115, Germany. [email protected].
• ³ Institute of Human Genetics, Medical Faculty, University of Bonn, Bonn, 53127, Germany.
• ⁴ Institute of Neuroanatomy, Medical Faculty, University of Bonn, Bonn, 53115, Germany.
• ⁵ Department of Neuropediatrics, University Hospital Bonn, Bonn, 53127, Germany.
• ⁶ Institute of Anatomy and Cell Biology, Medical Faculty, University of Bonn, Bonn, 53115, Germany.
• ⁷ Division of Cell Matrix Biology and Regenerative Medicine, School of Biological Sciences, Faculty of Biology Medicine and Health, University of Manchester, Manchester, UK.
• ⁸ Georg-Speyer-Haus, Institute for Tumor Biology and Experimental Therapy, 60596, Frankfurt am Main, Germany.
• ⁹ Division of Nephrology, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
• ¹⁰ Institute of Medical Genetics and Human Genetics, Charité Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany.
• ¹¹ Department of Pediatrics, Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany.
• ¹² Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.
• ¹³ Medical Scientist Training Program, Baylor College of Medicine, Houston, TX, USA.
• ¹⁴ Center for Cardiovascular Research, Nationwide Children's Hospital, Department of Pediatrics, Ohio State University, Columbus, OH, USA.
• ¹⁵ Department of Pediatrics, Renal Service, Texas Children's Hospital, Houston, TX, 77030, USA.
• ¹⁶ Department of Pediatrics, Baylor College of Medicine, Houston, TX, 77030, USA.
• ¹⁷ Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, 16132, Genoa, Italy.
• ¹⁸ U.O.C. Genetica Medica, IRCCS Istituto Giannina Gaslini, 16147, Genoa, Italy.
• ¹⁹ Medical Genetics, Department of Precision Medicine, Università degli Studi della Campania 'Luigi Vanvitelli', via Luigi De Crecchio 7, 80138, Naples, Italy.
• ²⁰ Telethon Institute of Genetics and Medicine, Pozzuoli, Naples, Italy.
• ²¹ Department of Molecular Medicine and Medical Biotechnologies, University Federico II, Naples, Italy.
• ²² Genomics and Clinical Genetics, IRCCS Gaslini, Genoa, Italy.
• ²³ Division of Medical Genetics, Department of Specialized Medicine, McGill University, Montreal, QC, Canada.
• ²⁴ Department of Human Genetics, McGill University, Montreal, QC, Canada.
• ²⁵ Medical Genetics Service, Oncology Department of Southern Switzerland, Ente Ospedaliero Cantonale, Lugano, Switzerland.
• ²⁶ MBBM Foundation, Monza, Italy.
• ²⁷ Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA.
• ²⁸ Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA.
• ²⁹ Department of Quantitative Health Sciences, Mayo Clinic, Rochester, MN, USA.
• ³⁰ Department of Pediatrics, Seoul National University College of Medicine, Seoul, Republic of Korea.
• ³¹ Department of Genomics Medicine, Rare Disease Center, Seoul National University Hospital, Seoul, Republic of Korea.
• ³² Division of Neonatology, Pediatric Intensive Care and Neuropediatrics, Comprehensive Center for Pediatrics, Medical University of Vienna, Vienna, Austria.
• ³³ Division of Bioinformatics, Medical University of Innsbruck, 6020, Innsbruck, Austria.
• ³⁴ Department of Pediatrics I, Medical University of Innsbruck, 6020, Innsbruck, Austria.
• ³⁵ Division of Human Genetics, Medical University of Innsbruck, 6020, Innsbruck, Austria.
• ³⁶ Department of Pediatrics and Adolescent Medicine, Division of Pediatric Pulmonology, Allergology and Endocrinology, Comprehensive Center for Pediatrics, Medical University of Vienna, 1090, Vienna, Austria.
• ³⁷ Department of Clinical Medicine, Aarhus University, Aarhus, Denmark.
• ³⁸ Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark.
• ³⁹ Division of Medical Genetics, Department of Pediatrics, Duke University, Durham, NC, USA.
• ⁴⁰ Department of Pediatrics, Duke University Medical Center, Durham, NC, USA.
• ⁴¹ Pediatric Neurology, Riley Hospital for Children Indiana University Health, Indianapolis, IN, USA.
• ⁴² Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, Germany.
• ⁴³ Division of Neuropediatrics and Social Pediatrics, Department of Pediatrics, Medical Faculty, RWTH Aachen University, 52074, Aachen, Germany.
• ⁴⁴ Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.
• ⁴⁵ Department of Neurology, Columbia University Vagelos College of Physicians and Surgeons, New York, NY, USA.
• ⁴⁶ Department of Pathology, Columbia University Vagelos College of Physicians and Surgeons, New York, NY, USA.
• ⁴⁷ Division of Child Neurology, Department of Neurology, Columbia University Vagelos College of Physicians and Surgeons and NewYork-Presbyterian Morgan Stanley Children's Hospital, New York, NY, USA.
• ⁴⁸ Department of Pediatrics, Columbia University Vagelos College of Physicians and Surgeons and NewYork-Presbyterian Morgan Stanley Children's Hospital, New York, NY, USA.
• ⁴⁹ Institute for Genomic Medicine, Columbia University Vagelos College of Physicians and Surgeons, New York, NY, USA.
• ⁵⁰ Department of Genetic Counselling, The Hospital for Sick Children, Toronto, ON, M5G 1X8, Canada.
• ⁵¹ Department of Molecular Genetics, University of Toronto, Toronto, ON, M5S 1A1, Canada.
• ⁵² Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, M5G 1X8, Canada.
• ⁵³ U.O. Genetica Medica, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy.
• ⁵⁴ Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ, USA.
• ⁵⁵ Departments of Child Health, Neurology, and Cellular & Molecular Medicine, and Program in Genetics, University of Arizona College of Medicine-Phoenix, Phoenix, AZ, USA.
• ⁵⁶ Neuroscience Research Center, Faculty of Medicine, Golestan University of Medical Sciences, Gorgan, Iran.
• ⁵⁷ Division Neonatology and Pediatric Intensive Care, Department of Pediatric and Adolescent Medicine, Friedrich-Alexander University of Erlangen-Nürnberg, Erlangen, Germany.
• ⁵⁸ Institute of Human Genetics, Friedrich-Alexander University of Erlangen-Nürnberg, Erlangen, Germany.
• ⁵⁹ Institute of Structural Biology, University Hospital Bonn, University of Bonn, Venusberg-Campus 1, 53127, Bonn, Germany.
• ⁶⁰ Royal Manchester Children's Hospital, Manchester University NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester, UK.
• ⁶¹ Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, 77030, USA.
• ⁶² Texas Children's Hospital, Houston, TX, 77030, USA.
• ⁶³ Department of Pediatric and Adolescent Medicine, Friedrich-Alexander University of Erlangen-Nürnberg, Erlangen, 91054, Germany. [email protected].
• ⁶⁴ Research Center On Rare Kidney Diseases (RECORD), University Hospital Erlangen, 91054, Erlangen, Germany. [email protected].