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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.
Liu, Zhigang; Xin, Baozhong; Smith, Iris N; Sency, Valerie; Szekely, Julia; Alkelai, Anna; Shuldiner, Alan; Efthymiou, Stephanie; Rajabi, Farrah; Coury, Stephanie; Brownstein, Catherine A; Rudnik-Schöneborn, Sabine; Bruel, Ange-Line; Thevenon, Julien; Zeidler, Shimriet; Jayakar, Parul; Schmidt, Axel; Cremer, Kirsten; Engels, Hartmut; Peters, Sophia O; Zaki, Maha S; Duan, Ruizhi; Zhu, Changlian; Xu, Yiran; Gao, Chao; Sepulveda-Morales, Tania; Maroofian, Reza; Alkhawaja, Issam A; Khawaja, Mariam; Alhalasah, Hunaida; Houlden, Henry; Madden, Jill A; Turchetti, Valentina; Marafi, Dana; Agrawal, Pankaj B; Schatz, Ulrich; Rotenberg, Ari; Rotenberg, Joshua; Mancini, Grazia M S; Bakhtiari, Somayeh; Kruer, Michael; Thiffault, Isabelle; Hirsch, Steffen; Hempel, Maja; Stühn, Lara G; Haack, Tobias B; Posey, Jennifer E; Lupski, James R; Lee, Hyunpil; Sarn, Nicholas B.
Affiliation
  • 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.
  • Rudnik-Schöneborn S; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA 02115, USA.
  • Bruel AL; Institute for Human Genetics, Medical University Innsbruck, Innsbruck 6020, Austria.
  • Thevenon J; 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.
  • Zeidler S; UF Innovation en diagnostic génomique des maladies rares, CHU Dijon Bourgogne, Dijon 21000, France.
  • Jayakar P; Université Grenoble Alpes, Institute for Advanced Biosciences, Grenoble, France.
  • Schmidt A; Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam 3015 GD, The Netherlands.
  • Cremer K; Division of Genetics and Metabolism, Nicklaus Children's Hospital, Miami, FL 33155, USA.
  • 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; Institute of Human Genetics, University of Bonn, School of Medicine & University Hospital Bonn, 53105 Bonn, Germany.
  • Duan R; Institute of Human Genetics, University of Bonn, School of Medicine & University Hospital Bonn, 53105 Bonn, Germany.
  • Zhu C; Clinical Genetics Department, Human Genetics and Genome Research Institute National Research Centre, Cairo 12622, Egypt.
  • Xu Y; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Gao C; Center for Brain Repair and Rehabilitation, Institute of Neuroscience and Physiology, University of Gothenburg, Göteborg 417 56, Sweden.
  • Sepulveda-Morales T; 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.
  • Maroofian R; 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.
  • Alkhawaja IA; Department of Pediatric Rehabilitation Medicine, Children's Hospital Affiliated to Zhengzhou University, Zhengzhou 450012, China.
  • Khawaja M; International Laboratory for Human Genome Research, Laboratorio Internacional de Investigación sobre el Genoma Humano, Universidad Nacional Autónoma de México, Juriquilla, Querétaro 76226, México.
  • Alhalasah H; Department of Neuromuscular Disorders, University College London (UCL) Institute of Neurology, London WC1N 3BG, UK.
  • Houlden H; Al-Bashir Hospital, Pediatric Department, Pediatric Neurology Unit, Amman, Jordan.
  • Madden JA; Prince Hamzah Hospital, Amman, Jordan.
  • Turchetti V; Hospital Clínic and Fundació Hospital Sant Joan de Déu de Martorell/Barcelona, Barcelona, Spain.
  • Marafi D; Al-Karak Government Teaching Hospital, Al-Karak, Jordan.
  • Agrawal PB; Department of Neuromuscular Disorders, University College London (UCL) Institute of Neurology, London WC1N 3BG, UK.
  • Schatz U; Division of Genetics & Genomics, Boston Children's Hospital, Boston, MA 02115, USA.
  • Rotenberg A; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA 02115, USA.
  • Rotenberg J; Department of Neuromuscular Disorders, University College London (UCL) Institute of Neurology, London WC1N 3BG, UK.
  • Mancini GMS; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Bakhtiari S; Department of Pediatrics, Faculty of Medicine, Kuwait University, Kuwait City 13060, Kuwait.
  • Kruer M; Division of Genetics & Genomics, Boston Children's Hospital, Boston, MA 02115, USA.
  • Thiffault I; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA 02115, USA.
  • Hirsch S; Division of Neonatology, Department of Pediatrics, University of Miami School of Medicine and Jackson Health System, Miami, FL 33136, USA.
  • Hempel M; Institute for Human Genetics, Medical University Innsbruck, Innsbruck 6020, Austria.
  • Stühn LG; Houston Specialty Clinic, Houston, TX 77024, USA.
  • Haack TB; Houston Specialty Clinic, Houston, TX 77024, USA.
  • Posey JE; Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam 3015 GD, The Netherlands.
  • Lupski JR; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ 85016, USA.
  • Lee H; Departments of Child Health, Neurology, and Cellular & Molecular Medicine, and Program in Genetics, University of Arizona College of Medicine-Phoenix, Phoenix, AZ 85004, USA.
  • Sarn NB; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ 85016, USA.
Hum Mol Genet ; 32(20): 2981-2995, 2023 Oct 04.
Article in En | MEDLINE | ID: mdl-37531237
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Autistic Disorder / Neurodevelopmental Disorders / Autism Spectrum Disorder / Intellectual Disability Type of study: Prognostic_studies / Risk_factors_studies Limits: Humans / Male Language: En Journal: Hum Mol Genet Year: 2023 Document type: Article
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Autistic Disorder / Neurodevelopmental Disorders / Autism Spectrum Disorder / Intellectual Disability Type of study: Prognostic_studies / Risk_factors_studies Limits: Humans / Male Language: En Journal: Hum Mol Genet Year: 2023 Document type: Article