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Loss-of-function and missense variants in NSD2 cause decreased methylation activity and are associated with a distinct developmental phenotype.
Zanoni, Paolo; Steindl, Katharina; Sengupta, Deepanwita; Joset, Pascal; Bahr, Angela; Sticht, Heinrich; Lang-Muritano, Mariarosaria; van Ravenswaaij-Arts, Conny M A; Shinawi, Marwan; Andrews, Marisa; Attie-Bitach, Tania; Maystadt, Isabelle; Belnap, Newell; Benoit, Valerie; Delplancq, Geoffroy; de Vries, Bert B A; Grotto, Sarah; Lacombe, Didier; Larson, Austin; Mourmans, Jeroen; Õunap, Katrin; Petrilli, Giulia; Pfundt, Rolph; Ramsey, Keri; Blok, Lot Snijders; Tsatsaris, Vassilis; Vitobello, Antonio; Faivre, Laurence; Wheeler, Patricia G; Wevers, Marijke R; Wojcik, Monica; Zweier, Markus; Gozani, Or; Rauch, Anita.
Affiliation
  • Zanoni P; Institute of Medical Genetics, University of Zürich, Schlieren-Zurich, Switzerland. paolo.zanoni@uzh.ch.
  • Steindl K; Institute of Medical Genetics, University of Zürich, Schlieren-Zurich, Switzerland.
  • Sengupta D; Department of Biology, Stanford University, Stanford, CA, USA.
  • Joset P; Institute of Medical Genetics, University of Zürich, Schlieren-Zurich, Switzerland.
  • Bahr A; Institute of Medical Genetics, University of Zürich, Schlieren-Zurich, Switzerland.
  • Sticht H; Institute of Biochemistry, Friedrich-Alexander University Erlangen-Nürnberg, Erlangen, Germany.
  • Lang-Muritano M; Department of Pediatric Endocrinology and Diabetology, University Children's Hospital, Zurich, Switzerland.
  • van Ravenswaaij-Arts CMA; Children's Research Centre, University Children's Hospital, Zurich, Switzerland.
  • Shinawi M; Department of Genetics, University of Groningen, University Medical Centre Groningen, Groningen, The Netherlands.
  • Andrews M; Department of Pediatrics, Division of Genetics and Genomic Medicine, Washington University School of Medicine, St. Louis, MO, USA.
  • Attie-Bitach T; Department of Pediatrics, Division of Genetics and Genomic Medicine, Washington University School of Medicine, St. Louis, MO, USA.
  • Maystadt I; Service d'Histologie-Embryologie-Cytogénétique, Unité d'Embryofoetopathologie, Hôpital Necker-Enfants Malades, APHP, Paris, France.
  • Belnap N; INSERM UMR 1163, Université de Paris, Imagine Institute, Paris, France.
  • Benoit V; Centre de Génétique Humaine, Institut de Pathologie et de Génétique, Gosselies, Belgium.
  • Delplancq G; Faculté de médecine, Université de Namur, Namur, Belgium.
  • de Vries BBA; Center for Rare Childhood Disorders (C4RCD), Translational Genomics Research Institute, Phoenix, AZ, USA.
  • Grotto S; Neurogenomics Division, Translational Genomics Research Institute, Phoenix, AZ, USA.
  • Lacombe D; Centre de Génétique Humaine, Institut de Pathologie et de Génétique, Gosselies, Belgium.
  • Larson A; Département de Biologie Moléculaire, Institut de Pathologie et de Génétique, Gosselies, Belgium.
  • Mourmans J; Centre de Génétique Humaine, Université de Franche-Comté, CHU, Besançon, France.
  • Õunap K; Service de Neuropédiatrie, CHU, Besançon, France.
  • Petrilli G; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Pfundt R; Maternité Port-Royal, AP-HP, Hôpital Cochin, Paris, France.
  • Ramsey K; Service de Génétique Médicale, Hôpital Pellegrin CHU, Bordeaux, France.
  • Blok LS; Department of Pediatrics, Section of Genetics, University of Colorado Anschutz Medical Campus, Denver, CO, USA.
  • Tsatsaris V; Deventer Ziekenhuis, Deventer, the Netherlands.
  • Vitobello A; Department of Clinical Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia.
  • Faivre L; Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.
  • Wheeler PG; Service d'Histologie-Embryologie-Cytogénétique, Unité d'Embryofoetopathologie, Hôpital Necker-Enfants Malades, APHP, Paris, France.
  • Wevers MR; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Wojcik M; Center for Rare Childhood Disorders (C4RCD), Translational Genomics Research Institute, Phoenix, AZ, USA.
  • Zweier M; Neurogenomics Division, Translational Genomics Research Institute, Phoenix, AZ, USA.
  • Gozani O; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Rauch A; Maternité Port-Royal, AP-HP, Hôpital Cochin, Paris, France.
Genet Med ; 23(8): 1474-1483, 2021 08.
Article in En | MEDLINE | ID: mdl-33941880
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Histone-Lysine N-Methyltransferase / Wolf-Hirschhorn Syndrome Type of study: Prognostic_studies / Risk_factors_studies Limits: Female / Humans / Pregnancy Language: En Journal: Genet Med Journal subject: GENETICA MEDICA Year: 2021 Type: Article Affiliation country: Switzerland
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Histone-Lysine N-Methyltransferase / Wolf-Hirschhorn Syndrome Type of study: Prognostic_studies / Risk_factors_studies Limits: Female / Humans / Pregnancy Language: En Journal: Genet Med Journal subject: GENETICA MEDICA Year: 2021 Type: Article Affiliation country: Switzerland