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De novo heterozygous variants of the RSF1 gene are responsible for a syndromic neurodevelopmental disorder.

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Title: De novo heterozygous variants of the RSF1 gene are responsible for a syndromic neurodevelopmental disorder.
Authors: Jost C; Centre de Référence Anomalies du Développement et Syndromes Malformatifs de l'Interrégion Est, FHU TRANSLAD, Dijon University Hospital, Dijon, France., Busa T; Genetics Department, Timone Enfants University Hospital Center, Public Assistance-Marseille Hospitals, Marseille, France., Wegner D; Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, USA., Shinawi M; Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, USA., Schaefer E; Genetics Department, Public Strasbourg Hospitals, Strasbourg, France., Piton A; Genetic Diagnosis Laboratory, Strasbourg University Hospital, Strasbourg, France., Schluth-Bolard C; Genetic Diagnosis Laboratory, Strasbourg University Hospital, Strasbourg, France.; Laboratoire de Génétique Médicale, Institut de Génétique Médicale d'Alsace, INSERM UMRS_1112, Université de Strasbourg, Centre de Recherche en Biomédecine de Strasbourg, Strasbourg, France., Charles P; Genetic Department, Pitié-Salpêtrière Hospital, AP-HP, Sorbonne University, Paris, France., Keren B; Genetic Department, Pitié-Salpêtrière Hospital, AP-HP, Sorbonne University, Paris, France., Mayerhanser K; School of Medicine, Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, Munich, Germany., Brunet T; School of Medicine, Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, Munich, Germany., Schatz U; School of Medicine, Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, Munich, Germany., Neil JE; Division of Genetics and Genomics, and Howard Hughes Medical Institute, Boston Children's Hospital, Boston, MA, USA., Walsh CA; Division of Genetics and Genomics, and Howard Hughes Medical Institute, Boston Children's Hospital, Boston, MA, USA.; Departments of Pediatrics and Neurology, Harvard Medical School, Boston, MA, USA., Sisco K; Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, USA., J Paul A; Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, USA., Lee C; Department of Pediatrics, Division of Medical Genetics, Stanford University, Palo Alto, CA, USA., Dykzeul N; Department of Pediatrics, Division of Medical Genetics, Stanford University, Palo Alto, CA, USA., Bonner D; Department of Pediatrics, Division of Medical Genetics, Stanford University, Palo Alto, CA, USA., Bernstein JA; Department of Pediatrics, Division of Medical Genetics, Stanford University, Palo Alto, CA, USA., Sutcliffe E; GeneDx, LLC, Gaithersburg, MD, USA., Wentzensen IM; GeneDx, LLC, Gaithersburg, MD, USA., Froehlich C; Stony Brook Medicine, Lake Grove, NY, USA., Liebler K; Stony Brook Medicine, Lake Grove, NY, USA., Galvin Parton P; Stony Brook Medicine, Lake Grove, NY, USA., Weiss-Burns J; Stony Brook Medicine, Lake Grove, NY, USA., Sagnol C; Centre de Référence Déficiences Intellectuelles de Causes Rares, Dijon University Hospital Dijon, Dijon, France., Delanne J; Centre de Référence Anomalies du Développement et Syndromes Malformatifs de l'Interrégion Est, FHU TRANSLAD, Dijon University Hospital, Dijon, France.; Centre de Référence Déficiences Intellectuelles de Causes Rares, Dijon University Hospital Dijon, Dijon, France., Racine C; Centre de Référence Anomalies du Développement et Syndromes Malformatifs de l'Interrégion Est, FHU TRANSLAD, Dijon University Hospital, Dijon, France.; INSERM-University of Burgundy-UMR1231 GAD, Dijon, France., Thauvin-Robinet C; INSERM-University of Burgundy-UMR1231 GAD, Dijon, France.; Centre de Référence NeuroGène, Dijon University Hospital, Dijon, France., Safraou H; INSERM-University of Burgundy-UMR1231 GAD, Dijon, France.; Laboratoire de Génomique médicale-Centre NEOMICS, Dijon University Hospital, Dijon, France., Tran Mau-Them F; INSERM-University of Burgundy-UMR1231 GAD, Dijon, France.; Laboratoire de Génomique médicale-Centre NEOMICS, Dijon University Hospital, Dijon, France., Duffourd Y; INSERM-University of Burgundy-UMR1231 GAD, Dijon, France.; Laboratoire de Génomique médicale-Centre NEOMICS, Dijon University Hospital, Dijon, France., Bruel AL; INSERM-University of Burgundy-UMR1231 GAD, Dijon, France.; Laboratoire de Génomique médicale-Centre NEOMICS, Dijon University Hospital, Dijon, France., Faivre L; Centre de Référence Anomalies du Développement et Syndromes Malformatifs de l'Interrégion Est, FHU TRANSLAD, Dijon University Hospital, Dijon, France. laurence.faivre@chu-dijon.fr.; Centre de Référence Déficiences Intellectuelles de Causes Rares, Dijon University Hospital Dijon, Dijon, France. laurence.faivre@chu-dijon.fr.; INSERM-University of Burgundy-UMR1231 GAD, Dijon, France. laurence.faivre@chu-dijon.fr.; Centre de Référence GenoPsy, CHU Dijon Bourgogne, Dijon, France. laurence.faivre@chu-dijon.fr.
Corporate Authors: Undiagnosed Diseases Network
Source: European journal of human genetics : EJHG [Eur J Hum Genet] 2026 Apr; Vol. 34 (4), pp. 554-564. Date of Electronic Publication: 2026 Jan 28.
Publication Type: Journal Article
Journal Info: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
FullText Text:
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  Data: De novo heterozygous variants of the RSF1 gene are responsible for a syndromic neurodevelopmental disorder.
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Genetic Diagnosis Laboratory, Strasbourg University Hospital, Strasbourg, France.; Laboratoire de Génétique Médicale, Institut de Génétique Médicale d'Alsace, INSERM UMRS_1112, Université de Strasbourg, Centre de Recherche en Biomédecine de Strasbourg, Strasbourg, France.<br /><searchLink fieldCode="AU" term="%22Charles+P%22">Charles P</searchLink>; Genetic Department, Pitié-Salpêtrière Hospital, AP-HP, Sorbonne University, Paris, France.<br /><searchLink fieldCode="AU" term="%22Keren+B%22">Keren B</searchLink>; Genetic Department, Pitié-Salpêtrière Hospital, AP-HP, Sorbonne University, Paris, France.<br /><searchLink fieldCode="AU" term="%22Mayerhanser+K%22">Mayerhanser K</searchLink>; School of Medicine, Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, Munich, Germany.<br /><searchLink fieldCode="AU" term="%22Brunet+T%22">Brunet T</searchLink>; School of Medicine, Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, Munich, Germany.<br /><searchLink fieldCode="AU" term="%22Schatz+U%22">Schatz U</searchLink>; 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Stony Brook Medicine, Lake Grove, NY, USA.<br /><searchLink fieldCode="AU" term="%22Weiss-Burns+J%22">Weiss-Burns J</searchLink>; Stony Brook Medicine, Lake Grove, NY, USA.<br /><searchLink fieldCode="AU" term="%22Sagnol+C%22">Sagnol C</searchLink>; Centre de Référence Déficiences Intellectuelles de Causes Rares, Dijon University Hospital Dijon, Dijon, France.<br /><searchLink fieldCode="AU" term="%22Delanne+J%22">Delanne J</searchLink>; Centre de Référence Anomalies du Développement et Syndromes Malformatifs de l'Interrégion Est, FHU TRANSLAD, Dijon University Hospital, Dijon, France.; Centre de Référence Déficiences Intellectuelles de Causes Rares, Dijon University Hospital Dijon, Dijon, France.<br /><searchLink fieldCode="AU" term="%22Racine+C%22">Racine C</searchLink>; Centre de Référence Anomalies du Développement et Syndromes Malformatifs de l'Interrégion Est, FHU TRANSLAD, Dijon University Hospital, Dijon, France.; INSERM-University of Burgundy-UMR1231 GAD, Dijon, France.<br /><searchLink fieldCode="AU" term="%22Thauvin-Robinet+C%22">Thauvin-Robinet C</searchLink>; 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Centre de Référence Anomalies du Développement et Syndromes Malformatifs de l'Interrégion Est, FHU TRANSLAD, Dijon University Hospital, Dijon, France. laurence.faivre@chu-dijon.fr.; Centre de Référence Déficiences Intellectuelles de Causes Rares, Dijon University Hospital Dijon, Dijon, France. laurence.faivre@chu-dijon.fr.; INSERM-University of Burgundy-UMR1231 GAD, Dijon, France. laurence.faivre@chu-dijon.fr.; Centre de Référence GenoPsy, CHU Dijon Bourgogne, Dijon, France. laurence.faivre@chu-dijon.fr.
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