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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.

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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.
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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  Data: 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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  Data: <searchLink fieldCode="AU" term="%22Liu+Z%22">Liu Z</searchLink>; Genomic Medicine Institute, Cleveland Clinic Lerner Research Institute, Cleveland, OH 44195, USA.<br /><searchLink fieldCode="AU" term="%22Xin+B%22">Xin B</searchLink>; DDC Clinic for Special Needs Children, Middlefield, OH 44062, USA.<br /><searchLink fieldCode="AU" term="%22Smith+IN%22">Smith IN</searchLink>; Genomic Medicine Institute, Cleveland Clinic Lerner Research Institute, Cleveland, OH 44195, USA.<br /><searchLink fieldCode="AU" term="%22Sency+V%22">Sency V</searchLink>; DDC Clinic for Special Needs Children, Middlefield, OH 44062, USA.<br /><searchLink fieldCode="AU" term="%22Szekely+J%22">Szekely J</searchLink>; DDC Clinic for Special Needs Children, Middlefield, OH 44062, USA.<br /><searchLink fieldCode="AU" term="%22Alkelai+A%22">Alkelai A</searchLink>; Regeneron Genetics Center, Regeneron Pharmaceuticals, Tarrytown, NY 10591, USA.<br /><searchLink fieldCode="AU" term="%22Shuldiner+A%22">Shuldiner A</searchLink>; 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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.<br /><searchLink fieldCode="AU" term="%22Thevenon+J%22">Thevenon J</searchLink>; Université Grenoble Alpes, Institute for Advanced Biosciences, Grenoble, France.<br /><searchLink fieldCode="AU" term="%22Zeidler+S%22">Zeidler S</searchLink>; Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam 3015 GD, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Jayakar+P%22">Jayakar P</searchLink>; Division of Genetics and Metabolism, Nicklaus Children's Hospital, Miami, FL 33155, USA.<br /><searchLink fieldCode="AU" term="%22Schmidt+A%22">Schmidt A</searchLink>; Institute of Human Genetics, University of Bonn, School of Medicine & University Hospital Bonn, 53105 Bonn, Germany.<br /><searchLink fieldCode="AU" term="%22Cremer+K%22">Cremer K</searchLink>; 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Houston Specialty Clinic, Houston, TX 77024, USA.<br /><searchLink fieldCode="AU" term="%22Rotenberg+J%22">Rotenberg J</searchLink>; Houston Specialty Clinic, Houston, TX 77024, USA.<br /><searchLink fieldCode="AU" term="%22Mancini+GMS%22">Mancini GMS</searchLink>; Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam 3015 GD, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Bakhtiari+S%22">Bakhtiari S</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Kruer+M%22">Kruer M</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Thiffault+I%22">Thiffault I</searchLink>; Genomic Medicine Center, Children's Mercy Kansas City, Children's Mercy Research Institute, Kansas City, MO 64108, USA.<br /><searchLink fieldCode="AU" term="%22Hirsch+S%22">Hirsch S</searchLink>; Institute if Human Genetics, Heidelberg University Hospital, 69120 Heidelberg, Germany.<br /><searchLink fieldCode="AU" term="%22Hempel+M%22">Hempel M</searchLink>; Institute if Human Genetics, Heidelberg University Hospital, 69120 Heidelberg, Germany.<br /><searchLink fieldCode="AU" term="%22Stühn+LG%22">Stühn LG</searchLink>; Institute of Medical Genetics and Applied Genomics, University of Tübingen, 72076 Tübingen, Germany.<br /><searchLink fieldCode="AU" term="%22Haack+TB%22">Haack TB</searchLink>; Institute of Medical Genetics and Applied Genomics, University of Tübingen, 72076 Tübingen, Germany.<br /><searchLink fieldCode="AU" term="%22Posey+JE%22">Posey JE</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.<br /><searchLink fieldCode="AU" term="%22Lupski+JR%22">Lupski JR</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Lee+H%22">Lee H</searchLink>; Genomic Medicine Institute, Cleveland Clinic Lerner Research Institute, Cleveland, OH 44195, USA.<br /><searchLink fieldCode="AU" term="%22Sarn+NB%22">Sarn NB</searchLink>; Genomic Medicine Institute, Cleveland Clinic Lerner Research Institute, Cleveland, OH 44195, USA.<br /><searchLink fieldCode="AU" term="%22Eng+C%22">Eng C</searchLink>; Genomic Medicine Institute, Cleveland Clinic Lerner Research Institute, Cleveland, OH 44195, USA.<br /><searchLink fieldCode="AU" term="%22Gonzaga-Jauregui+C%22">Gonzaga-Jauregui C</searchLink>; International Laboratory for Human Genome Research, Laboratorio Internacional de Investigación sobre el Genoma Humano, Universidad Nacional Autónoma de México, Juriquilla, Querétaro 76226, México.<br /><searchLink fieldCode="AU" term="%22Zhang+B%22">Zhang B</searchLink>; Genomic Medicine Institute, Cleveland Clinic Lerner Research Institute, Cleveland, OH 44195, USA.<br /><searchLink fieldCode="AU" term="%22Wang+H%22">Wang H</searchLink>; DDC Clinic for Special Needs Children, Middlefield, OH 44062, USA.
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      – TitleFull: 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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            NameFull: Kruer M
      – PersonEntity:
          Name:
            NameFull: Thiffault I
      – PersonEntity:
          Name:
            NameFull: Hirsch S
      – PersonEntity:
          Name:
            NameFull: Hempel M
      – PersonEntity:
          Name:
            NameFull: Stühn LG
      – PersonEntity:
          Name:
            NameFull: Haack TB
      – PersonEntity:
          Name:
            NameFull: Posey JE
      – PersonEntity:
          Name:
            NameFull: Lupski JR
      – PersonEntity:
          Name:
            NameFull: Lee H
      – PersonEntity:
          Name:
            NameFull: Sarn NB
      – PersonEntity:
          Name:
            NameFull: Eng C
      – PersonEntity:
          Name:
            NameFull: Gonzaga-Jauregui C
      – PersonEntity:
          Name:
            NameFull: Zhang B
      – PersonEntity:
          Name:
            NameFull: Wang H
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 04
              M: 10
              Text: 2023 Oct 04
              Type: published
              Y: 2023
          Identifiers:
            – Type: issn-electronic
              Value: 1460-2083
          Numbering:
            – Type: volume
              Value: 32
            – Type: issue
              Value: 20
          Titles:
            – TitleFull: Human molecular genetics
              Type: main
ResultId 1