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Heterozygous pathogenic variants in the splicing factor SF1 lead to a large spectrum of neurodevelopmental disorders.

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Title: Heterozygous pathogenic variants in the splicing factor SF1 lead to a large spectrum of neurodevelopmental disorders.
Authors: Bou-Rouphael J; Paris Brain Institute, Sorbonne Université, Inserm U1127, CNRS UMR 7225, Hôpital Pitié-Salpêtrière, 75013 Paris, France., Cospain A; Paris Brain Institute, Sorbonne Université, Inserm U1127, CNRS UMR 7225, Hôpital Pitié-Salpêtrière, 75013 Paris, France., Courtin T; Département de Génétique Médicale, Centre de référence déficience intellectuelle, APHP Sorbonne Université, Hôpitaux Pitié-Salpêtrière et Armand Trousseau, 75013 Paris, France., Keren B; Département de Génétique Médicale, APHP Sorbonne Université, Hôpital Pitié-Salpêtrière, 75013 Paris, France., Marie C; Paris Brain Institute, Sorbonne Université, Inserm U1127, CNRS UMR 7225, Hôpital Pitié-Salpêtrière, 75013 Paris, France., Lesieur-Sebellin M; Département de Génétique Médicale, APHP Sorbonne Université, Hôpital Pitié-Salpêtrière, 75013 Paris, France., Heron D; Département de Génétique Médicale, Centre de référence déficience intellectuelle, APHP Sorbonne Université, Hôpitaux Pitié-Salpêtrière et Armand Trousseau, 75013 Paris, France., de Sainte Agathe JM; Département de Génétique Médicale, APHP Sorbonne Université, Hôpital Pitié-Salpêtrière, 75013 Paris, France., Heide S; Département de Génétique Médicale, Centre de référence déficience intellectuelle, APHP Sorbonne Université, Hôpitaux Pitié-Salpêtrière et Armand Trousseau, 75013 Paris, France., Lejeune E; Département de Génétique Médicale, APHP Sorbonne Université, Hôpital Pitié-Salpêtrière, 75013 Paris, France., Quelin C; Service de Génétique Clinique, Centre de Référence Maladies Rares CLAD-Ouest, CHU Rennes, 35000 Rennes, France., Lecoquierre F; Département de Génétique et Centre de Référence Maladies Rares, Normandie University, UNIROUEN, Inserm U1245, FHU G4 Génomique, CHU Rouen, 76000 Rouen, France., Nizon M; Service de Génétique Médicale, CHU Nantes, 44093 Nantes, France., Isidor B; Service de Génétique Médicale, CHU Nantes, 44093 Nantes, France., Besnard T; Service de Génétique Médicale, CHU Nantes, 44093 Nantes, France., Cogne B; Service de Génétique Médicale, CHU Nantes, 44093 Nantes, France., Latypova X; Département de Génétique, Hôpital Robert Debré, 75019 Paris, France., Levy J; Département de Génétique, Hôpital Robert Debré, 75019 Paris, France., Joset P; Institute of Medical Genetics, University of Zürich, 8952 Schlieren, Switzerland., Steindl K; Institute of Medical Genetics, University of Zürich, 8952 Schlieren, Switzerland., Palomares-Bralo M; Unidad de Diagnóstico Molecular y Genética Clínica, Hospital Universitario Son Espases, IdISBa, 07120 Palma de Mallorca, Spain., Santos-Simarro F; Unidad de Diagnóstico Molecular y Genética Clínica, Hospital Universitario Son Espases, IdISBa, 07120 Palma de Mallorca, Spain., Thomas MA; Departments of Medical Genetics and Pediatrics, Cumming School of Medicine, Alberta Children's Hospital, University of Calgary, Calgary, AB, Canada., Abubakar A; Center for Geographic Medicine Research Coast, Neuroscience Unit, KEMRI-Wellcome Trust, Kilifi, Kenya; Institute of Human Development, Aga Khan University, Nairobi, Kenya; Department of Psychiatry, University of Oxford, London, UK., Lynch SA; Department of Clinical Genetics, Children's Health Ireland (CHI) at Crumlin, Dublin, Ireland., Müller AJ; Institute of Medical Genetics and Applied Genomics, University of Tübingen, 72074 Tübingen, Germany., Haack TB; Institute of Medical Genetics and Applied Genomics, University of Tübingen, 72074 Tübingen, Germany; Center for Rare Disease, Genomics for Health in Africa (GHA), Africa-Europe Cluster of Research Excellence (CoRE), University of Tübingen, 72074 Tübingen, Germany., Zenker M; Institute of Human Genetics, University Hospital, 39120 Magdeburg, Germany., Parker M; Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK., Clossick E; Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK., Spiller M; Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK., Crookes R; Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK., Holder-Espinasse M; Clinical Genetics Department, Guy's & St Thomas' NHS Foundation Trust, Guy's Hospital, London, UK., Bayat A; Department of Child Neurology, Danish Epilepsy Centre, 4293 Dianalund, Denmark., Møller RS; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Centre, 4293 Dianalund, Denmark; Department of Regional Health Research, University of Southern Denmark, 5230 Odense, Denmark., Mieszczanek TS; Department of Child Neurology, Danish Epilepsy Centre, 4293 Dianalund, Denmark., de la Grange P; GenoSplice, 75014 Paris, France., Buratti J; Département de Génétique Médicale, APHP Sorbonne Université, Hôpital Pitié-Salpêtrière, 75013 Paris, France., Marijon P; Laboratoire de Médecine Génomique SeqOIA, 75014 Paris, France., Ataf S; West Midlands Regional Clinical Genetics Service and Birmingham Health Partners, Birmingham Women's and Children's Hospitals NHS Foundation Trust, Birmingham, UK., Gavin R; West Midlands Regional Clinical Genetics Service and Birmingham Health Partners, Birmingham Women's and Children's Hospitals NHS Foundation Trust, Birmingham, UK., Parras C; Paris Brain Institute, Sorbonne Université, Inserm U1127, CNRS UMR 7225, Hôpital Pitié-Salpêtrière, 75013 Paris, France., Hassan BA; Paris Brain Institute, Sorbonne Université, Inserm U1127, CNRS UMR 7225, Hôpital Pitié-Salpêtrière, 75013 Paris, France., Mignot C; Département de Génétique Médicale, Centre de référence déficience intellectuelle, APHP Sorbonne Université, Hôpitaux Pitié-Salpêtrière et Armand Trousseau, 75013 Paris, France., El Khattabi L; Paris Brain Institute, Sorbonne Université, Inserm U1127, CNRS UMR 7225, Hôpital Pitié-Salpêtrière, 75013 Paris, France; Département de Génétique Médicale, APHP Sorbonne Université, Hôpital Pitié-Salpêtrière, 75013 Paris, France. Electronic address: laila.elkhattabi@icm-institute.org.
Source: American journal of human genetics [Am J Hum Genet] 2025 Nov 06; Vol. 112 (11), pp. 2605-2624. Date of Electronic Publication: 2025 Sep 22.
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE
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  Data: Heterozygous pathogenic variants in the splicing factor SF1 lead to a large spectrum of neurodevelopmental disorders.
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  Data: <searchLink fieldCode="AU" term="%22Bou-Rouphael+J%22">Bou-Rouphael J</searchLink>; Paris Brain Institute, Sorbonne Université, Inserm U1127, CNRS UMR 7225, Hôpital Pitié-Salpêtrière, 75013 Paris, France.<br /><searchLink fieldCode="AU" term="%22Cospain+A%22">Cospain A</searchLink>; Paris Brain Institute, Sorbonne Université, Inserm U1127, CNRS UMR 7225, Hôpital Pitié-Salpêtrière, 75013 Paris, France.<br /><searchLink fieldCode="AU" term="%22Courtin+T%22">Courtin T</searchLink>; Département de Génétique Médicale, Centre de référence déficience intellectuelle, APHP Sorbonne Université, Hôpitaux Pitié-Salpêtrière et Armand Trousseau, 75013 Paris, France.<br /><searchLink fieldCode="AU" term="%22Keren+B%22">Keren B</searchLink>; Département de Génétique Médicale, APHP Sorbonne Université, Hôpital Pitié-Salpêtrière, 75013 Paris, France.<br /><searchLink fieldCode="AU" term="%22Marie+C%22">Marie C</searchLink>; Paris Brain Institute, Sorbonne Université, Inserm U1127, CNRS UMR 7225, Hôpital Pitié-Salpêtrière, 75013 Paris, France.<br /><searchLink fieldCode="AU" term="%22Lesieur-Sebellin+M%22">Lesieur-Sebellin M</searchLink>; Département de Génétique Médicale, APHP Sorbonne Université, Hôpital Pitié-Salpêtrière, 75013 Paris, France.<br /><searchLink fieldCode="AU" term="%22Heron+D%22">Heron D</searchLink>; Département de Génétique Médicale, Centre de référence déficience intellectuelle, APHP Sorbonne Université, Hôpitaux Pitié-Salpêtrière et Armand Trousseau, 75013 Paris, France.<br /><searchLink fieldCode="AU" term="%22de+Sainte+Agathe+JM%22">de Sainte Agathe JM</searchLink>; Département de Génétique Médicale, APHP Sorbonne Université, Hôpital Pitié-Salpêtrière, 75013 Paris, France.<br /><searchLink fieldCode="AU" term="%22Heide+S%22">Heide S</searchLink>; Département de Génétique Médicale, Centre de référence déficience intellectuelle, APHP Sorbonne Université, Hôpitaux Pitié-Salpêtrière et Armand Trousseau, 75013 Paris, France.<br /><searchLink fieldCode="AU" term="%22Lejeune+E%22">Lejeune E</searchLink>; Département de Génétique Médicale, APHP Sorbonne Université, Hôpital Pitié-Salpêtrière, 75013 Paris, France.<br /><searchLink fieldCode="AU" term="%22Quelin+C%22">Quelin C</searchLink>; Service de Génétique Clinique, Centre de Référence Maladies Rares CLAD-Ouest, CHU Rennes, 35000 Rennes, France.<br /><searchLink fieldCode="AU" term="%22Lecoquierre+F%22">Lecoquierre F</searchLink>; Département de Génétique et Centre de Référence Maladies Rares, Normandie University, UNIROUEN, Inserm U1245, FHU G4 Génomique, CHU Rouen, 76000 Rouen, France.<br /><searchLink fieldCode="AU" term="%22Nizon+M%22">Nizon M</searchLink>; Service de Génétique Médicale, CHU Nantes, 44093 Nantes, France.<br /><searchLink fieldCode="AU" term="%22Isidor+B%22">Isidor B</searchLink>; Service de Génétique Médicale, CHU Nantes, 44093 Nantes, France.<br /><searchLink fieldCode="AU" term="%22Besnard+T%22">Besnard T</searchLink>; Service de Génétique Médicale, CHU Nantes, 44093 Nantes, France.<br /><searchLink fieldCode="AU" term="%22Cogne+B%22">Cogne B</searchLink>; Service de Génétique Médicale, CHU Nantes, 44093 Nantes, France.<br /><searchLink fieldCode="AU" term="%22Latypova+X%22">Latypova X</searchLink>; Département de Génétique, Hôpital Robert Debré, 75019 Paris, France.<br /><searchLink fieldCode="AU" term="%22Levy+J%22">Levy J</searchLink>; Département de Génétique, Hôpital Robert Debré, 75019 Paris, France.<br /><searchLink fieldCode="AU" term="%22Joset+P%22">Joset P</searchLink>; Institute of Medical Genetics, University of Zürich, 8952 Schlieren, Switzerland.<br /><searchLink fieldCode="AU" term="%22Steindl+K%22">Steindl K</searchLink>; Institute of Medical Genetics, University of Zürich, 8952 Schlieren, Switzerland.<br /><searchLink fieldCode="AU" term="%22Palomares-Bralo+M%22">Palomares-Bralo M</searchLink>; Unidad de Diagnóstico Molecular y Genética Clínica, Hospital Universitario Son Espases, IdISBa, 07120 Palma de Mallorca, Spain.<br /><searchLink fieldCode="AU" term="%22Santos-Simarro+F%22">Santos-Simarro F</searchLink>; Unidad de Diagnóstico Molecular y Genética Clínica, Hospital Universitario Son Espases, IdISBa, 07120 Palma de Mallorca, Spain.<br /><searchLink fieldCode="AU" term="%22Thomas+MA%22">Thomas MA</searchLink>; Departments of Medical Genetics and Pediatrics, Cumming School of Medicine, Alberta Children's Hospital, University of Calgary, Calgary, AB, Canada.<br /><searchLink fieldCode="AU" term="%22Abubakar+A%22">Abubakar A</searchLink>; Center for Geographic Medicine Research Coast, Neuroscience Unit, KEMRI-Wellcome Trust, Kilifi, Kenya; Institute of Human Development, Aga Khan University, Nairobi, Kenya; Department of Psychiatry, University of Oxford, London, UK.<br /><searchLink fieldCode="AU" term="%22Lynch+SA%22">Lynch SA</searchLink>; Department of Clinical Genetics, Children's Health Ireland (CHI) at Crumlin, Dublin, Ireland.<br /><searchLink fieldCode="AU" term="%22Müller+AJ%22">Müller AJ</searchLink>; Institute of Medical Genetics and Applied Genomics, University of Tübingen, 72074 Tübingen, Germany.<br /><searchLink fieldCode="AU" term="%22Haack+TB%22">Haack TB</searchLink>; Institute of Medical Genetics and Applied Genomics, University of Tübingen, 72074 Tübingen, Germany; Center for Rare Disease, Genomics for Health in Africa (GHA), Africa-Europe Cluster of Research Excellence (CoRE), University of Tübingen, 72074 Tübingen, Germany.<br /><searchLink fieldCode="AU" term="%22Zenker+M%22">Zenker M</searchLink>; Institute of Human Genetics, University Hospital, 39120 Magdeburg, Germany.<br /><searchLink fieldCode="AU" term="%22Parker+M%22">Parker M</searchLink>; Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK.<br /><searchLink fieldCode="AU" term="%22Clossick+E%22">Clossick E</searchLink>; Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK.<br /><searchLink fieldCode="AU" term="%22Spiller+M%22">Spiller M</searchLink>; Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK.<br /><searchLink fieldCode="AU" term="%22Crookes+R%22">Crookes R</searchLink>; Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK.<br /><searchLink fieldCode="AU" term="%22Holder-Espinasse+M%22">Holder-Espinasse M</searchLink>; Clinical Genetics Department, Guy's & St Thomas' NHS Foundation Trust, Guy's Hospital, London, UK.<br /><searchLink fieldCode="AU" term="%22Bayat+A%22">Bayat A</searchLink>; Department of Child Neurology, Danish Epilepsy Centre, 4293 Dianalund, Denmark.<br /><searchLink fieldCode="AU" term="%22Møller+RS%22">Møller RS</searchLink>; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Centre, 4293 Dianalund, Denmark; Department of Regional Health Research, University of Southern Denmark, 5230 Odense, Denmark.<br /><searchLink fieldCode="AU" term="%22Mieszczanek+TS%22">Mieszczanek TS</searchLink>; Department of Child Neurology, Danish Epilepsy Centre, 4293 Dianalund, Denmark.<br /><searchLink fieldCode="AU" term="%22de+la+Grange+P%22">de la Grange P</searchLink>; GenoSplice, 75014 Paris, France.<br /><searchLink fieldCode="AU" term="%22Buratti+J%22">Buratti J</searchLink>; Département de Génétique Médicale, APHP Sorbonne Université, Hôpital Pitié-Salpêtrière, 75013 Paris, France.<br /><searchLink fieldCode="AU" term="%22Marijon+P%22">Marijon P</searchLink>; Laboratoire de Médecine Génomique SeqOIA, 75014 Paris, France.<br /><searchLink fieldCode="AU" term="%22Ataf+S%22">Ataf S</searchLink>; West Midlands Regional Clinical Genetics Service and Birmingham Health Partners, Birmingham Women's and Children's Hospitals NHS Foundation Trust, Birmingham, UK.<br /><searchLink fieldCode="AU" term="%22Gavin+R%22">Gavin R</searchLink>; West Midlands Regional Clinical Genetics Service and Birmingham Health Partners, Birmingham Women's and Children's Hospitals NHS Foundation Trust, Birmingham, UK.<br /><searchLink fieldCode="AU" term="%22Parras+C%22">Parras C</searchLink>; Paris Brain Institute, Sorbonne Université, Inserm U1127, CNRS UMR 7225, Hôpital Pitié-Salpêtrière, 75013 Paris, France.<br /><searchLink fieldCode="AU" term="%22Hassan+BA%22">Hassan BA</searchLink>; Paris Brain Institute, Sorbonne Université, Inserm U1127, CNRS UMR 7225, Hôpital Pitié-Salpêtrière, 75013 Paris, France.<br /><searchLink fieldCode="AU" term="%22Mignot+C%22">Mignot C</searchLink>; Département de Génétique Médicale, Centre de référence déficience intellectuelle, APHP Sorbonne Université, Hôpitaux Pitié-Salpêtrière et Armand Trousseau, 75013 Paris, France.<br /><searchLink fieldCode="AU" term="%22El+Khattabi+L%22">El Khattabi L</searchLink>; Paris Brain Institute, Sorbonne Université, Inserm U1127, CNRS UMR 7225, Hôpital Pitié-Salpêtrière, 75013 Paris, France; Département de Génétique Médicale, APHP Sorbonne Université, Hôpital Pitié-Salpêtrière, 75013 Paris, France. Electronic address: laila.elkhattabi@icm-institute.org.
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              Value: 11
          Titles:
            – TitleFull: American journal of human genetics
              Type: main
ResultId 1