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Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders.

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Title: Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders.
Authors: Gracia-Diaz C; Raymond G. Perelman Center for Cellular and Molecular Therapeutics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, PA, USA., Zhou Y; Raymond G. Perelman Center for Cellular and Molecular Therapeutics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, PA, USA., Yang Q; Department of Neuroscience and Mahoney Institute for Neurosciences, University of Pennsylvania, Philadelphia, PA, USA., Maroofian R; Department of Neuromuscular Disorders, Queen Square Institute of Neurology, University College London, London, UK., Espana-Bonilla P; Department of Structural and Molecular Biology, Instituto de Biología Molecular de Barcelona (IBMB), Consejo Superior de Investigaciones Científicas (CSIC), Barcelona, Spain., Lee CH; Department of Biomedical Sciences and Pharmacology, Seoul National University, College of Medicine, Seoul, South Korea., Zhang S; Department of Systems Pharmacology and Translational Therapeutics, University of Pennsylvania, Philadelphia, PA, USA., Padilla N; Research Unit in Clinical and Translational Bioinformatics, Vall d'Hebron Institute of Research (VHIR), Universitat Autonoma de Barcelona, Barcelona, Spain., Fueyo R; Department of Structural and Molecular Biology, Instituto de Biología Molecular de Barcelona (IBMB), Consejo Superior de Investigaciones Científicas (CSIC), Barcelona, Spain., Waxman EA; Raymond G. Perelman Center for Cellular and Molecular Therapeutics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA., Lei S; Raymond G. Perelman Center for Cellular and Molecular Therapeutics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, PA, USA., Otrimski G; Raymond G. Perelman Center for Cellular and Molecular Therapeutics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, PA, USA., Li D; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA., Sheppard SE; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA., Mark P; Department of Pediatrics, Division of Medical Genetics, Helen DeVos Children's Hospital, Corewell Health, Grand Rapids, MI, USA., Harr MH; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA., Hakonarson H; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA., Rodan L; Department of Neurology, Boston Children's Hospital, Boston, MA, USA.; Division of Genetics & Genomics, Boston Children's Hospital, Boston, MA, USA., Jackson A; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK., Vasudevan P; Leicestershire Clinical Genetics Service, University Hospitals of Leicester NHS Trust, Leicester Royal Infirmary, Leicester, UK., Powel C; Leicestershire Clinical Genetics Service, University Hospitals of Leicester NHS Trust, Leicester Royal Infirmary, Leicester, UK., Mohammed S; Guy's Hospital, London, UK., Maddirevula S; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Alzaidan H; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Faqeih EA; Section of Medical Genetics, Children's Specialist Hospital, King Fahad Medical City, Riyadh, Saudi Arabia., Efthymiou S; Department of Neuromuscular Disorders, Queen Square Institute of Neurology, University College London, London, UK., Turchetti V; Department of Neuromuscular Disorders, Queen Square Institute of Neurology, University College London, London, UK., Rahman F; Developmental and Behavioral Pediatrics, University of Child Health Sciences & The Children's Hospital, Lahore, Pakistan., Maqbool S; Developmental and Behavioral Pediatrics, University of Child Health Sciences & The Children's Hospital, Lahore, Pakistan., Salpietro V; Department of Neuromuscular Disorders, Queen Square Institute of Neurology, University College London, London, UK., Ibrahim SH; Department of Pediatrics and Child Health, Aga Khan University Hospital, Karachi, Pakistan., di Rosa G; Child Neuropsychiatry Unit, Department of Pediatrics, University of Messina, Messina, 98100, Italy., Houlden H; Department of Neuromuscular Disorders, Queen Square Institute of Neurology, University College London, London, UK., Alharbi MN; Maternity and Children Hospital Buraidah, Qassim Health Cluster, Buraydah, Saudi Arabia., Al-Sannaa NA; John Hopkins Aramco Health Care, Pediatric Services, Dhahran, Saudi Arabia., Bauer P; Centogene GmbH, Rostock, Germany., Zifarelli G; Centogene GmbH, Rostock, Germany., Estaras C; Center for Translational Medicine, Department of Cardiovascular Sciences, Temple University, Philadelphia, PA, USA., Hurst ACE; University of Alabama at Birmingham, Birmingham, AL, USA., Thompson ML; HudsonAlpha Institute for Biotechnology, Huntsville, AL, USA., Chassevent A; Department of Neurogenetics, Neurology and Developmental Medicine Kennedy Krieger Institute, Baltimore, MD, USA., Smith-Hicks CL; Department of Neurogenetics, Neurology and Developmental Medicine Kennedy Krieger Institute, Baltimore, MD, USA.; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, USA., de la Cruz X; Research Unit in Clinical and Translational Bioinformatics, Vall d'Hebron Institute of Research (VHIR), Universitat Autonoma de Barcelona, Barcelona, Spain.; Institució Catalana de Recerca i Estudis Avançats (ICREA), Barcelona, Spain., Holtz AM; Division of Genetics & Genomics, Boston Children's Hospital, Boston, MA, USA., Elloumi HZ; GeneDx, Gaithersburg, MD, 20877, USA., Hajianpour MJ; Division of Medical Genetics and Genomics, Department of Pediatrics, Albany Medical College, Albany, NY, USA., Rieubland C; Department of Human Genetics, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland., Braun D; Department of Human Genetics, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland., Banka S; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK., French DL; Raymond G. Perelman Center for Cellular and Molecular Therapeutics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, PA, USA., Heller EA; Department of Systems Pharmacology and Translational Therapeutics, University of Pennsylvania, Philadelphia, PA, USA., Saade M; Department of Structural and Molecular Biology, Instituto de Biología Molecular de Barcelona (IBMB), Consejo Superior de Investigaciones Científicas (CSIC), Barcelona, Spain., Song H; Department of Neuroscience and Mahoney Institute for Neurosciences, University of Pennsylvania, Philadelphia, PA, USA., Ming GL; Department of Neuroscience and Mahoney Institute for Neurosciences, University of Pennsylvania, Philadelphia, PA, USA., Alkuraya FS; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia., Agrawal PB; Division of Genetics & Genomics, Boston Children's Hospital, Boston, MA, USA.; Division of Newborn Medicine, Boston Children's Hospital, Boston, MA, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA.; Division of Neonatology, Department of Pediatrics, University of Miami School of Medicine and Holtz Children's Hospital, Jackson Heath System, Miami, FL, USA., Reinberg D; HHMI/NYU Langone School of Medicine, New York, NY, USA., Bhoj EJ; Raymond G. Perelman Center for Cellular and Molecular Therapeutics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA., Martínez-Balbás MA; Department of Structural and Molecular Biology, Instituto de Biología Molecular de Barcelona (IBMB), Consejo Superior de Investigaciones Científicas (CSIC), Barcelona, Spain., Akizu N; Raymond G. Perelman Center for Cellular and Molecular Therapeutics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA. aquizun@chop.edu.; Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, PA, USA. aquizun@chop.edu.
Corporate Authors: Genomic England Research Consortium
Source: Nature communications [Nat Commun] 2023 Jul 11; Vol. 14 (1), pp. 4109. Date of Electronic Publication: 2023 Jul 11.
Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders.
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      – TitleFull: Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders.
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            NameFull: di Rosa G
      – PersonEntity:
          Name:
            NameFull: Houlden H
      – PersonEntity:
          Name:
            NameFull: Alharbi MN
      – PersonEntity:
          Name:
            NameFull: Al-Sannaa NA
      – PersonEntity:
          Name:
            NameFull: Bauer P
      – PersonEntity:
          Name:
            NameFull: Zifarelli G
      – PersonEntity:
          Name:
            NameFull: Estaras C
      – PersonEntity:
          Name:
            NameFull: Hurst ACE
      – PersonEntity:
          Name:
            NameFull: Thompson ML
      – PersonEntity:
          Name:
            NameFull: Chassevent A
      – PersonEntity:
          Name:
            NameFull: Smith-Hicks CL
      – PersonEntity:
          Name:
            NameFull: de la Cruz X
      – PersonEntity:
          Name:
            NameFull: Holtz AM
      – PersonEntity:
          Name:
            NameFull: Elloumi HZ
      – PersonEntity:
          Name:
            NameFull: Hajianpour MJ
      – PersonEntity:
          Name:
            NameFull: Rieubland C
      – PersonEntity:
          Name:
            NameFull: Braun D
      – PersonEntity:
          Name:
            NameFull: Banka S
      – PersonEntity:
          Name:
            NameFull: French DL
      – PersonEntity:
          Name:
            NameFull: Heller EA
      – PersonEntity:
          Name:
            NameFull: Saade M
      – PersonEntity:
          Name:
            NameFull: Song H
      – PersonEntity:
          Name:
            NameFull: Ming GL
      – PersonEntity:
          Name:
            NameFull: Alkuraya FS
      – PersonEntity:
          Name:
            NameFull: Agrawal PB
      – PersonEntity:
          Name:
            NameFull: Reinberg D
      – PersonEntity:
          Name:
            NameFull: Bhoj EJ
      – PersonEntity:
          Name:
            NameFull: Martínez-Balbás MA
      – PersonEntity:
          Name:
            NameFull: Akizu N
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 11
              M: 07
              Text: 2023 Jul 11
              Type: published
              Y: 2023
          Identifiers:
            – Type: issn-electronic
              Value: 2041-1723
          Numbering:
            – Type: volume
              Value: 14
            – Type: issue
              Value: 1
          Titles:
            – TitleFull: Nature communications
              Type: main
ResultId 1