Hemizygous variants in protein phosphatase 1 regulatory subunit 3F (PPP1R3F) are associated with a neurodevelopmental disorder characterized by developmental delay, intellectual disability and autistic features.
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| Title: | Hemizygous variants in protein phosphatase 1 regulatory subunit 3F (PPP1R3F) are associated with a neurodevelopmental disorder characterized by developmental delay, intellectual disability and autistic features. |
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| Authors: | Liu Z; Genomic Medicine Institute, Cleveland Clinic Lerner Research Institute, Cleveland, OH 44195, USA., Xin B; DDC Clinic for Special Needs Children, Middlefield, OH 44062, USA., Smith IN; Genomic Medicine Institute, Cleveland Clinic Lerner Research Institute, Cleveland, OH 44195, USA., Sency V; DDC Clinic for Special Needs Children, Middlefield, OH 44062, USA., Szekely J; DDC Clinic for Special Needs Children, Middlefield, OH 44062, USA., Alkelai A; Regeneron Genetics Center, Regeneron Pharmaceuticals, Tarrytown, NY 10591, USA., Shuldiner A; Regeneron Genetics Center, Regeneron Pharmaceuticals, Tarrytown, NY 10591, USA., Efthymiou S; Department of Neuromuscular Disorders, University College London (UCL) Institute of Neurology, London WC1N 3BG, UK., Rajabi F; Division of Genetics & Genomics, Boston Children's Hospital, Boston, MA 02115, USA., Coury S; Division of Genetics & Genomics, Boston Children's Hospital, Boston, MA 02115, USA., Brownstein CA; Division of Genetics & Genomics, Boston Children's Hospital, Boston, MA 02115, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA 02115, USA., Rudnik-Schöneborn S; Institute for Human Genetics, Medical University Innsbruck, Innsbruck 6020, Austria., Bruel AL; Inserm UMR1231 GAD, Génétique des Anomalies du Développement, Fédération Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement (FHU TRANSLAD), CHU Dijon Bourgogne, Dijon 21000, France.; UF Innovation en diagnostic génomique des maladies rares, CHU Dijon Bourgogne, Dijon 21000, France., Thevenon J; Université Grenoble Alpes, Institute for Advanced Biosciences, Grenoble, France., Zeidler S; Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam 3015 GD, The Netherlands., Jayakar P; Division of Genetics and Metabolism, Nicklaus Children's Hospital, Miami, FL 33155, USA., Schmidt A; Institute of Human Genetics, University of Bonn, School of Medicine & University Hospital Bonn, 53105 Bonn, Germany., Cremer K; Institute of Human Genetics, University of Bonn, School of Medicine & University Hospital Bonn, 53105 Bonn, Germany., Engels H; Institute of Human Genetics, University of Bonn, School of Medicine & University Hospital Bonn, 53105 Bonn, Germany., Peters SO; Institute of Human Genetics, University of Bonn, School of Medicine & University Hospital Bonn, 53105 Bonn, Germany., Zaki MS; Clinical Genetics Department, Human Genetics and Genome Research Institute National Research Centre, Cairo 12622, Egypt., Duan R; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Zhu C; Center for Brain Repair and Rehabilitation, Institute of Neuroscience and Physiology, University of Gothenburg, Göteborg 417 56, Sweden.; Henan Key Laboratory of Child Brain Injury and Henan Pediatric Clinical Research Center, Institute of Neuroscience and Third Affiliated Hospital of Zhengzhou University, Zhengzhou 450052, China., Xu Y; Henan Key Laboratory of Child Brain Injury and Henan Pediatric Clinical Research Center, Institute of Neuroscience and Third Affiliated Hospital of Zhengzhou University, Zhengzhou 450052, China., Gao C; Department of Pediatric Rehabilitation Medicine, Children's Hospital Affiliated to Zhengzhou University, Zhengzhou 450012, China., Sepulveda-Morales T; International Laboratory for Human Genome Research, Laboratorio Internacional de Investigación sobre el Genoma Humano, Universidad Nacional Autónoma de México, Juriquilla, Querétaro 76226, México., Maroofian R; Department of Neuromuscular Disorders, University College London (UCL) Institute of Neurology, London WC1N 3BG, UK., Alkhawaja IA; Al-Bashir Hospital, Pediatric Department, Pediatric Neurology Unit, Amman, Jordan., Khawaja M; Prince Hamzah Hospital, Amman, Jordan.; Hospital Clínic and Fundació Hospital Sant Joan de Déu de Martorell/Barcelona, Barcelona, Spain., Alhalasah H; Al-Karak Government Teaching Hospital, Al-Karak, Jordan., Houlden H; Department of Neuromuscular Disorders, University College London (UCL) Institute of Neurology, London WC1N 3BG, UK., Madden JA; Division of Genetics & Genomics, Boston Children's Hospital, Boston, MA 02115, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA 02115, USA., Turchetti V; Department of Neuromuscular Disorders, University College London (UCL) Institute of Neurology, London WC1N 3BG, UK., Marafi D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Department of Pediatrics, Faculty of Medicine, Kuwait University, Kuwait City 13060, Kuwait., Agrawal PB; Division of Genetics & Genomics, Boston Children's Hospital, Boston, MA 02115, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA 02115, USA.; Division of Neonatology, Department of Pediatrics, University of Miami School of Medicine and Jackson Health System, Miami, FL 33136, USA., Schatz U; Institute for Human Genetics, Medical University Innsbruck, Innsbruck 6020, Austria., Rotenberg A; Houston Specialty Clinic, Houston, TX 77024, USA., Rotenberg J; Houston Specialty Clinic, Houston, TX 77024, USA., Mancini GMS; Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam 3015 GD, The Netherlands., Bakhtiari S; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ 85016, USA.; Departments of Child Health, Neurology, and Cellular & Molecular Medicine, and Program in Genetics, University of Arizona College of Medicine-Phoenix, Phoenix, AZ 85004, USA., Kruer M; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ 85016, USA.; Departments of Child Health, Neurology, and Cellular & Molecular Medicine, and Program in Genetics, University of Arizona College of Medicine-Phoenix, Phoenix, AZ 85004, USA., Thiffault I; Genomic Medicine Center, Children's Mercy Kansas City, Children's Mercy Research Institute, Kansas City, MO 64108, USA., Hirsch S; Institute if Human Genetics, Heidelberg University Hospital, 69120 Heidelberg, Germany., Hempel M; Institute if Human Genetics, Heidelberg University Hospital, 69120 Heidelberg, Germany., Stühn LG; Institute of Medical Genetics and Applied Genomics, University of Tübingen, 72076 Tübingen, Germany., Haack TB; Institute of Medical Genetics and Applied Genomics, University of Tübingen, 72076 Tübingen, Germany., Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Texas Children's Hospital, Houston, TX 77030, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA.; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA., Lee H; Genomic Medicine Institute, Cleveland Clinic Lerner Research Institute, Cleveland, OH 44195, USA., Sarn NB; Genomic Medicine Institute, Cleveland Clinic Lerner Research Institute, Cleveland, OH 44195, USA., Eng C; Genomic Medicine Institute, Cleveland Clinic Lerner Research Institute, Cleveland, OH 44195, USA., Gonzaga-Jauregui C; International Laboratory for Human Genome Research, Laboratorio Internacional de Investigación sobre el Genoma Humano, Universidad Nacional Autónoma de México, Juriquilla, Querétaro 76226, México., Zhang B; Genomic Medicine Institute, Cleveland Clinic Lerner Research Institute, Cleveland, OH 44195, USA., Wang H; DDC Clinic for Special Needs Children, Middlefield, OH 44062, USA. |
| Source: | Human molecular genetics [Hum Mol Genet] 2023 Oct 04; Vol. 32 (20), pp. 2981-2995. |
| Publication Type: | Journal Article; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Extramural |
| Journal Info: | Publisher: IRL Press at Oxford University Press Country of Publication: England NLM ID: 9208958 Publication Model: Print Cited Medium: Internet ISSN: 1460-2083 (Electronic) Linking ISSN: 09646906 NLM ISO Abbreviation: Hum Mol Genet Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| ISSN: | 1460-2083 |
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| DOI: | 10.1093/hmg/ddad124 |
