Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies.

Autor: Fountain MD; Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, TX, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Oleson DS; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Rech ME; Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, TX, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Segebrecht L; Institut für Medizinische Genetik und Humangenetik, Charité-Universitätsmedizin Berlin, Berlin, Germany.; Berlin Institute of Health (BIH), Berlin, Germany., Hunter JV; Department of Radiology, Texas Children's Hospital, Houston, TX, USA., McCarthy JM; Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, TX, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Lupo PJ; Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA., Holtgrewe M; Core Unit Bioinformatics, Berlin Institute of Health, Berlin, Germany., Moran R; Department of Genetics, Cleveland Clinic Children's, Cleveland, OH, USA., Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Isidor B; CHU Nantes, Service de Génétique Médicale, Nantes, France.; l'institut du thorax, INSERM, CNRS, UNIV Nantes, Nantes, France., Le Caignec C; CHU Nantes, Service de Génétique Médicale, Nantes, France., Saenz MS; Clinical Genetics and Metabolism, Children's Hospital Colorado, Aurora, CO, USA., Pedersen RC; Department of Pediatrics, Tripler Army Medical Center, Honolulu, HI, USA., Morgan TM; Department of Pediatrics, Division of Medical Genetics and Genomic Medicine, Vanderbilt University School of Medicine, Nashville, TN, USA., Pfotenhauer JP; Department of Pediatrics, Division of Medical Genetics and Genomic Medicine, Vanderbilt University School of Medicine, Nashville, TN, USA., Xia F; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Bi W; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Kang SL; Department of Pathology & Laboratory Medicine, University of California Los Angeles, Los Angeles, CA, USA., Patel A; Baylor Genetics, Houston, TX, USA., Krantz ID; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA., Raible SE; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Smith W; Department of Pediatrics, The Barbara Bush Children's Hospital, Maine Medical Center, Portland, ME, USA., Cristian I; Division of Genetics, Department of Pediatrics, Arnold Palmer Hospital, Orlando, FL, USA., Torti E; GeneDx, Gaithersburg, MD, USA., Juusola J; GeneDx, Gaithersburg, MD, USA., Millan F; GeneDx, Gaithersburg, MD, USA., Wentzensen IM; GeneDx, Gaithersburg, MD, USA., Person RE; GeneDx, Gaithersburg, MD, USA., Küry S; CHU Nantes, Service de Génétique Médicale, Nantes, France.; l'institut du thorax, INSERM, CNRS, UNIV Nantes, Nantes, France., Bézieau S; CHU Nantes, Service de Génétique Médicale, Nantes, France.; l'institut du thorax, INSERM, CNRS, UNIV Nantes, Nantes, France., Uguen K; Service de Génétique Médicale, CHRU de Brest, INSERM, Brest, France., Férec C; Service de Génétique Médicale, CHRU de Brest, INSERM, Brest, France., Munnich A; UMR1163, Université Paris Descartes, Sorbonne Paris Cité, Institut IMAGINE, Paris, France., van Haelst M; Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands.; Department of Clinical Genetics, Academic Medical Center, Amsterdam, The Netherlands., Lichtenbelt KD; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., van Gassen K; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., Hagelstrom T; Illumina Clinical Services Laboratory, Illumina, San Diego, CA, USA., Chawla A; Illumina Clinical Services Laboratory, Illumina, San Diego, CA, USA., Perry DL; Illumina Clinical Services Laboratory, Illumina, San Diego, CA, USA., Taft RJ; Illumina Clinical Services Laboratory, Illumina, San Diego, CA, USA., Jones M; Division of Genetics, Department of Pediatrics, UC San Diego School of Medicine, Rady Children's Hospital, San Diego, CA, USA., Masser-Frye D; Division of Genetics, Department of Pediatrics, UC San Diego School of Medicine, Rady Children's Hospital, San Diego, CA, USA., Dyment D; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada.; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, Canada., Venkateswaran S; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, Canada.; Division of Neurology, Department of Pediatrics, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada., Li C; McMaster University Medical Center, Hamilton, ON, Canada., Escobar LF; Medical Genetics and Neurodevelopment Center, St Vincent Children's Hospital, Indianapolis, IN, USA., Horn D; Charité-Universtitätsmedizin Berlin, Institute for Medical Genetics and Human Genetics, Berlin, Germany., Spillmann RC; Department of Pediatrics, Division of Medical Genetics, Duke University School of Medicine, Durham, NC, USA., Peña L; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA., Wierzba J; Department of General Nursery, Medical University of Gdańsk, Gdańsk, Poland., Strom TM; Institute of Human Genetics, Technische Universität München, Munich, Germany.; Institute of Human Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany., Parenti I; Section for Functional Genetics, Institute for Human Genetics, University of Lübeck, Lübeck, Germany., Kaiser FJ; Section for Functional Genetics, Institute for Human Genetics, University of Lübeck, Lübeck, Germany., Ehmke N; Institut für Medizinische Genetik und Humangenetik, Charité-Universitätsmedizin Berlin, Berlin, Germany.; Berlin Institute of Health (BIH), Berlin, Germany., Schaaf CP; Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, TX, USA. schaaf@bcm.edu.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA. schaaf@bcm.edu.; Institute of Human Genetics, University Hospital Cologne, Cologne, Germany. schaaf@bcm.edu.; Center for Molecular Medicine Cologne, University of Cologne, Cologne, Germany. schaaf@bcm.edu.; Center for Rare Diseases, University Hospital Cologne, Cologne, Germany. schaaf@bcm.edu.

Publikováno v: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2019 Aug; Vol. 21 (8), pp. 1797-1807. Date of Electronic Publication: 2019 Jan 25.