Heterozygous UBR5 variants result in a neurodevelopmental syndrome with developmental delay, autism, and intellectual disability.

Autor: Sabeh P; Department of Genetics, CHU Sainte-Justine, Montréal, QC, Canada., Dumas SA; Department of Anatomy, Physiology, and Genetics, Uniformed Services University of the Health Sciences, F. Edward Herbert School of Medicine, Bethesda, MD 20814, USA., Maios C; Department of Neuroscience, Université de Montréal, CRCHUM, Montréal, QC, Canada., Daghar H; Department of Neuroscience, Université de Montréal, CRCHUM, Montréal, QC, Canada., Korzeniowski M; Department of Anatomy, Physiology, and Genetics, Uniformed Services University of the Health Sciences, F. Edward Herbert School of Medicine, Bethesda, MD 20814, USA., Rousseau J; Department of Genetics, CHU Sainte-Justine, Montréal, QC, Canada., Lines M; Department of Clinical and Metabolic Genetics, Alberta Children's Hospital, Calgary, AB, Canada., Guerin A; Division of Medical Genetics, Department of Pediatrics, Queen's University, Kingston, ON, Canada., Millichap JJ; Department of Neurology, Feinberg School of Medicine, Northwestern University, Chicago, IL, USA., Landsverk M; Sanford Research, Pediatrics and Rare Diseases Group, University of South Dakota Sanford School of Medicine, Sioux Falls, SD, USA., Grebe T; Department of Genetics and Metabolism, Phoenix Children Hospital, Phoenix, AZ, USA., Lindstrom K; BioMarin Pharmaceutical, Inc., 105 Digital Dr., Novato, CA 94949, USA., Strober J; Department of Child Neurology, University of California, San Francisco, San Francisco, CA, USA., Ait Mouhoub T; Department of Genetic, University Hospital Center of Reims, Reims, France., Zweier C; Department of Human Genetics, Inselspital Bern, University of Bern, Bern, Switzerland., Steinraths M; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada., Hebebrand M; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany., Callewaert B; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium., Abou Jamra R; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Kautza-Lucht M; Institute of Human Genetics, University Hospital of Schleswig-Holstein, Kiel, Germany., Wegler M; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Kruszka P; GeneDx, Gaithersburg, MD, USA., Kumps C; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium., Banne E; The Genetic Institute, Wolfson Medical Center, Holon, Israel., Waberski MB; Pediatric Specialists of Virginia, Fairfax, VA, USA., Dieux A; Service de génétique clinique du CHU de Lille, Lille, France., Raible S; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA., Krantz I; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA., Medne L; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Pechter K; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Villard L; Aix Marseille University, INSERM, Marseille Medical Genetics Center, MMG, Marseille, France; University of Florence, Florence, Italy., Guerrini R; Neuroscience and Human Genetics Department, Meyer Children's Hospital IRCCS, Florence, Italy; University of Florence, Florence, Italy., Bianchini C; Neuroscience and Human Genetics Department, Meyer Children's Hospital IRCCS, Florence, Italy; University of Florence, Florence, Italy., Barba C; Neuroscience and Human Genetics Department, Meyer Children's Hospital IRCCS, Florence, Italy; University of Florence, Florence, Italy., Mei D; Neuroscience and Human Genetics Department, Meyer Children's Hospital IRCCS, Florence, Italy., Blanc X; Medigenome, Swiss Institute of Genomic Medicine, Geneva, Switzerland., Kallay C; Réseau Hospitalier Neuchâtelois, Neuchâtel, Switzerland., Ranza E; Medigenome, Swiss Institute of Genomic Medicine, Geneva, Switzerland., Yang XR; Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada., O'Heir E; Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Donald KA; Department of Paediatrics and Child Health, Red Cross War Memorial Children's Hospital, University of Cape Town, Rondebosch, South Africa., Murugasen S; Department of Paediatrics and Child Health, Red Cross War Memorial Children's Hospital, University of Cape Town, Rondebosch, South Africa., Bruwer Z; Department of Paediatrics and Child Health, Red Cross War Memorial Children's Hospital, University of Cape Town, Rondebosch, South Africa., Calikoglu M; University of North Carolina, Department of Pediatrics, Division of Genetics and Metabolism, Chapel Hill, NC, USA., Mathews JM; University of North Carolina, Department of Pediatrics, Division of Genetics and Metabolism, Chapel Hill, NC, USA., Lesieur-Sebellin M; Service de médecine génomique des maladies rares, Necker Hospital, Paris, France., Baujat G; University of North Carolina, Department of Pediatrics, Division of Genetics and Metabolism, Chapel Hill, NC, USA., Derive N; Laboratoire de Biologie Médicale Multi-Sites SeqOIA, Paris, France., Pierson TM; Departments of Pediatrics and of Neurology, Guerin Children's Cedars-Sinai Medical Center, Los Angeles, CA 90048, USA; Board of Governors Regenerative Medicine Institute, Cedars-Sinai Medical Center, Los Angeles, CA 90048, USA., Murrell JR; Department of Pathology and Laboratory Medicine, Children's Hospital of the University of Pennsylvania, Philadelphia, PA, USA., Shillington A; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA., Ormieres C; Service de médecine génomique des maladies rares, Necker Hospital, Paris, France., Rondeau S; Service de médecine génomique des maladies rares, Necker Hospital, Paris, France., Reis A; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany., Fernandez-Jaen A; Department of Pediatric Neurology, Hospital Universitario Quirónsalud, Madrid, Spain., Au PYB; Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada., Sweetser DA; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA., Briere LC; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA., Couque N; Département de Génétique - UF de Génétique Moléculaire Hôpital Robert Debré, Paris, France., Perrin L; Département de Génétique - UF de Génétique Moléculaire Hôpital Robert Debré, Paris, France., Schymick J; Santa Clara Valley Medical Center, San Jose, CA, USA., Gueguen P; Laboratoire de Biologie Médicale Multi-Sites SeqOIA, Paris, France., Lefebvre M; UF de génétique clinique, Centre Hospitalier Régional d'Orléans, Orléans, France., Van Andel M; Santa Clara Valley Medical Center, San Jose, CA, USA., Juusola J; GeneDx, Gaithersburg, MD, USA., Antonarakis SE; Medigenome, Swiss Institute of Genomic Medicine, Geneva, Switzerland., Parker JA; Department of Neuroscience, Université de Montréal, CRCHUM, Montréal, QC, Canada., Burnett BG; Department of Anatomy, Physiology, and Genetics, Uniformed Services University of the Health Sciences, F. Edward Herbert School of Medicine, Bethesda, MD 20814, USA. Electronic address: barrington.burnett@usuhs.edu., Campeau PM; Department of Genetics, CHU Sainte-Justine, Montréal, QC, Canada. Electronic address: p.campeau@umontreal.ca.

Publikováno v: American journal of human genetics [Am J Hum Genet] 2025 Jan 02; Vol. 112 (1), pp. 75-86. Date of Electronic Publication: 2024 Dec 24.