A clustering of heterozygous missense variants in the crucial chromatin modifier WDR5 defines a new neurodevelopmental disorder.

Autor: Snijders Blok L; Human Genetics Department, Radboud University Medical Center, Nijmegen, the Netherlands.; Language & Genetics Department, Max Planck Institute for Psycholinguistics, Nijmegen, the Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands., Verseput J; Human Genetics Department, Radboud University Medical Center, Nijmegen, the Netherlands., Rots D; Human Genetics Department, Radboud University Medical Center, Nijmegen, the Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands., Venselaar H; Centre for Molecular and Biomolecular Informatics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen 6500HB, the Netherlands., Innes AM; The Department of Medical Genetics and Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada., Stumpel C; Department of Clinical Genetics and School for Oncology and Developmental Biology (GROW-School for Oncology and Reproduction), Maastricht UMC+, Maastricht, the Netherlands., Õunap K; Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia.; Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia., Reinson K; Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia.; Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia., Seaby EG; Translational Genomics Group, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Genomic Informatics Group, University Hospital Southampton, Southampton, UK., McKee S; Northern Ireland Regional Genetics Service, Belfast City Hospital, Belfast HSC Trust, Belfast BT9 7AB, UK., Burton B; Ann and Robert H. Lurie Children's Hospital and Northwestern University Feinberg School of Medicine, Chicago, IL, USA., Kim K; Ann and Robert H. Lurie Children's Hospital and Northwestern University Feinberg School of Medicine, Chicago, IL, USA., van Hagen JM; Department of Human Genetics, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, the Netherlands., Waisfisz Q; Department of Human Genetics, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, the Netherlands., Joset P; Medical Genetics, Institute of Medical Genetics and Pathology, University Hospital Basel, Basel, Switzerland., Steindl K; Institute of Medical Genetics, University of Zuirch, Schlieren-Zurich, Switzerland., Rauch A; Institute of Medical Genetics, University of Zuirch, Schlieren-Zurich, Switzerland.; University Children's Hospital Zurich, Zurich, Switzerland., Li D; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA., Zackai EH; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA., Sheppard SE; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA., Keena B; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA., Hakonarson H; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA., Roos A; Department of Neuropediatrics, Developmental Neurology and Social Pediatrics, Centre for Neuromuscular Disorders in Children, University Hospital Essen, University of Duisburg-Essen, Essen, Germany.; Children's Hospital of Eastern Ontario Research Institute, Ottawa, ON, Canada.; Department of Neurology, University Hospital Bergmannsheil, Heimer Institute for Muscle Research, 44789 Bochum, Germany., Kohlschmidt N; Institute of Clinical Genetics and Tumor Genetics, Bonn, Germany., Cereda A; Department of Pediatrics, ASST Papa Giovanni XXIII, Bergamo, Italy., Iascone M; Laboratory of Medical Genetics, ASST Papa Giovanni XXIII, Bergamo, Italy., Rebessi E; Pediatric Neurological Unit and Epilespy Center, Fatebenefratelli Hospital, Milan, Italy., Kernohan KD; Newborn Screening Ontario, Children's Hospital of Eastern Ontario and Children's Hospital of Eastern Ontario Research Institute, Ottawa, ON, Canada., Campeau PM; CHU Sainte-Justine Research Center, Montreal, QC H3T 1C5, Canada.; Sainte-Justine Hospital, University of Montreal, Montreal, QC H3T 1C5, Canada., Millan F; GeneDx, Gaithersburg, MD 20877, USA., Taylor JA; Division of Plastic Surgery, Department of Surgery, The Children's Hospital of Philadelpia, Philadelphia, PA, USA., Lochmüller H; Children's Hospital of Eastern Ontario Research Institute, Division of Neurology, Department of Medicine, the Ottawa Hospital, Brain and Mind Research Institute, University of Ottawa, Ottawa, Canada., Higgs MR; Lysine Methylation and DNA Damage Laboratory, Institute of Cancer and Genomic Sciences, University of Birmingham, Birmingham, UK., Goula A; Lysine Methylation and DNA Damage Laboratory, Institute of Cancer and Genomic Sciences, University of Birmingham, Birmingham, UK., Bernhard B; North-West Thames Regional Genetics Service, North West London Hospitals NHS Trust, Munroe-Meyer, Harrow, UK., Velasco DJ; Institute for Genetics and Rehabilitation, University of Nebraska Medical Center, Omaha, NE, USA., Schmanski AA; Institute for Genetics and Rehabilitation, University of Nebraska Medical Center, Omaha, NE, USA., Stark Z; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia., Gallacher L; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia., Pais L; Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Marcogliese PC; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA., Yamamoto S; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA., Raun N; Department of Biochemistry and Molecular Biology, Faculty of Medicine, Dalhousie University, Halifax, NS, Canada., Jakub TE; International Max Planck Research School for Language Sciences, Max Planck Institute for Psycholinguistics, Nijmegen, the Netherlands., Kramer JM; Department of Biochemistry and Molecular Biology, Faculty of Medicine, Dalhousie University, Halifax, NS, Canada., den Hoed J; Language & Genetics Department, Max Planck Institute for Psycholinguistics, Nijmegen, the Netherlands., Fisher SE; Language & Genetics Department, Max Planck Institute for Psycholinguistics, Nijmegen, the Netherlands.; Donders Institute for Brain, Cognition & Behaviour, Radboud University, Nijmegen, the Netherlands., Brunner HG; Human Genetics Department, Radboud University Medical Center, Nijmegen, the Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.; Department of Clinical Genetics and School for Oncology and Developmental Biology (GROW-School for Oncology and Reproduction), Maastricht UMC+, Maastricht, the Netherlands., Kleefstra T; Human Genetics Department, Radboud University Medical Center, Nijmegen, the Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.

Publikováno v: HGG advances [HGG Adv] 2022 Nov 01; Vol. 4 (1), pp. 100157. Date of Electronic Publication: 2022 Nov 01 (Print Publication: 2023).