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FOSL2 truncating variants in the last exon cause a neurodevelopmental disorder with scalp and enamel defects.

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Title: FOSL2 truncating variants in the last exon cause a neurodevelopmental disorder with scalp and enamel defects.
Authors: Cospain A; Service de Génétique Clinique, Centre de Référence CLAD-Ouest, ERN ITHACA, CHU, Rennes, France; Laboratoire de Génétique Moléculaire et Génomique, CHU, Rennes, France. Electronic address: auriane.cospain@gmail.com., Rivera-Barahona A; Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Madrid, Spain; Instituto de Investigaciones Biomédicas Alberto Sols, CSIC-Universidad Autónoma de Madrid, Madrid, Spain., Dumontet E; Laboratoire d'Immunologie - Thérapie Cellulaire et Hématopoïèse, CHU, Rennes, France., Gener B; Department of Genetics, Biocruces Bizkaia Health Research Institute, Cruces University Hospital, Barakaldo, Spain., Bailleul-Forestier I; Department of Pediatric Dentistry, Competence Center of Rare Oral Diseases, Faculty of Odontology, Paul Sabatier University, CHU, Toulouse, France., Meyts I; Laboratory for Inborn Errors of Immunity, Department of Microbiology, Immunology and Transplantation, KU Leuven, Leuven, Belgium; Department of Paediatrics, University Hospitals Leuven, Leuven, Belgium., Jouret G; National Center of Genetics (NCG), Laboratoire National de Santé (LNS), Dudelange, Luxemburg., Isidor B; Service de Génétique Médicale, CHU de Nantes, Nantes, France., Brewer C; Department of Clinical Genetics, Royal Devon and Exeter NHS Foundation Trust, Exeter, United Kingdom., Wuyts W; Department of Medical Genetics, University of Antwerp and University Hospital of Antwerp, Edegem, Belgium., Moens L; Laboratory for Inborn Errors of Immunity, Department of Microbiology, Immunology and Transplantation, KU Leuven, Leuven, Belgium., Delafontaine S; Laboratory for Inborn Errors of Immunity, Department of Microbiology, Immunology and Transplantation, KU Leuven, Leuven, Belgium; Department of Paediatrics, University Hospitals Leuven, Leuven, Belgium., Keung Lam WW; South East of Scotland Clinical Genetics Service, Western General Hospital, Edinburgh, United Kingdom., Van Den Bogaert K; Center for Human Genetics, University Hospitals Leuven, KU Leuven, Leuven, Belgium., Boogaerts A; Center for Human Genetics, University Hospitals Leuven, KU Leuven, Leuven, Belgium., Scalais E; Department of Pediatric Neurology, Centre Hospitalier de Luxembourg, Luxemburg., Besnard T; Service de Génétique Médicale, CHU de Nantes, Nantes, France., Cogne B; Service de Génétique Médicale, CHU de Nantes, Nantes, France; Institut du Thorax, Nantes Université, CHU de Nantes, CNRS, INSERM, Nantes, France., Guissard C; RESTORE Research Center, Université de Toulouse, INSERM 1301, CNRS 5070, EFS, ENVT, Toulouse, France., Rollier P; Service de Génétique Clinique, Centre de Référence CLAD-Ouest, ERN ITHACA, CHU, Rennes, France; Laboratoire de Génétique Moléculaire et Génomique, CHU, Rennes, France., Carre W; Laboratoire de Génétique Moléculaire et Génomique, CHU, Rennes, France., Bouvet R; Laboratoire de Génétique Moléculaire et Génomique, CHU, Rennes, France., Tarte K; Laboratoire d'Immunologie - Thérapie Cellulaire et Hématopoïèse, CHU, Rennes, France., Gómez-Carmona R; Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Madrid, Spain; Instituto de Investigaciones Biomédicas Alberto Sols, CSIC-Universidad Autónoma de Madrid, Madrid, Spain., Lapunzina P; Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Madrid, Spain; Instituto de Genética Médica y Molecular (INGEMM)-IdiPAZ, Hospital Universitario La Paz, Madrid, Spain., Odent S; Service de Génétique Clinique, Centre de Référence CLAD-Ouest, ERN ITHACA, CHU, Rennes, France; Univ Rennes, CNRS, IGDR, UMR 6290, Rennes, France., Faoucher M; Laboratoire de Génétique Moléculaire et Génomique, CHU, Rennes, France; Univ Rennes, CNRS, IGDR, UMR 6290, Rennes, France., Dubourg C; Laboratoire de Génétique Moléculaire et Génomique, CHU, Rennes, France; Univ Rennes, CNRS, IGDR, UMR 6290, Rennes, France., Ruiz-Pérez VL; Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Madrid, Spain; Instituto de Investigaciones Biomédicas Alberto Sols, CSIC-Universidad Autónoma de Madrid, Madrid, Spain., Devriendt K; Center for Human Genetics, University Hospitals Leuven, KU Leuven, Leuven, Belgium., Pasquier L; Service de Génétique Clinique, Centre Référence Déficiences des Intellectuelles de Cause Rares, CHU, Rennes, France., Pérez-Jurado LA; Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Madrid, Spain; Servicio de Genética, Hospital del Mar Research Institute (IMIM), Barcelona, Spain; Department of Medicine and Life Sciences, Universitat Pompeu Fabra, Barcelona, Spain. Electronic address: luis.perez@upf.edu.
Source: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2022 Dec; Vol. 24 (12), pp. 2475-2486. Date of Electronic Publication: 2022 Oct 04.
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE
Database: MEDLINE Ultimate
FullText Text:
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  Data: FOSL2 truncating variants in the last exon cause a neurodevelopmental disorder with scalp and enamel defects.
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  Data: <searchLink fieldCode="AU" term="%22Cospain+A%22">Cospain A</searchLink>; Service de Génétique Clinique, Centre de Référence CLAD-Ouest, ERN ITHACA, CHU, Rennes, France; Laboratoire de Génétique Moléculaire et Génomique, CHU, Rennes, France. Electronic address: auriane.cospain@gmail.com.<br /><searchLink fieldCode="AU" term="%22Rivera-Barahona+A%22">Rivera-Barahona A</searchLink>; Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Madrid, Spain; Instituto de Investigaciones Biomédicas Alberto Sols, CSIC-Universidad Autónoma de Madrid, Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Dumontet+E%22">Dumontet E</searchLink>; Laboratoire d'Immunologie - Thérapie Cellulaire et Hématopoïèse, CHU, Rennes, France.<br /><searchLink fieldCode="AU" term="%22Gener+B%22">Gener B</searchLink>; Department of Genetics, Biocruces Bizkaia Health Research Institute, Cruces University Hospital, Barakaldo, Spain.<br /><searchLink fieldCode="AU" term="%22Bailleul-Forestier+I%22">Bailleul-Forestier I</searchLink>; Department of Pediatric Dentistry, Competence Center of Rare Oral Diseases, Faculty of Odontology, Paul Sabatier University, CHU, Toulouse, France.<br /><searchLink fieldCode="AU" term="%22Meyts+I%22">Meyts I</searchLink>; Laboratory for Inborn Errors of Immunity, Department of Microbiology, Immunology and Transplantation, KU Leuven, Leuven, Belgium; Department of Paediatrics, University Hospitals Leuven, Leuven, Belgium.<br /><searchLink fieldCode="AU" term="%22Jouret+G%22">Jouret G</searchLink>; National Center of Genetics (NCG), Laboratoire National de Santé (LNS), Dudelange, Luxemburg.<br /><searchLink fieldCode="AU" term="%22Isidor+B%22">Isidor B</searchLink>; Service de Génétique Médicale, CHU de Nantes, Nantes, France.<br /><searchLink fieldCode="AU" term="%22Brewer+C%22">Brewer C</searchLink>; Department of Clinical Genetics, Royal Devon and Exeter NHS Foundation Trust, Exeter, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Wuyts+W%22">Wuyts W</searchLink>; Department of Medical Genetics, University of Antwerp and University Hospital of Antwerp, Edegem, Belgium.<br /><searchLink fieldCode="AU" term="%22Moens+L%22">Moens L</searchLink>; Laboratory for Inborn Errors of Immunity, Department of Microbiology, Immunology and Transplantation, KU Leuven, Leuven, Belgium.<br /><searchLink fieldCode="AU" term="%22Delafontaine+S%22">Delafontaine S</searchLink>; Laboratory for Inborn Errors of Immunity, Department of Microbiology, Immunology and Transplantation, KU Leuven, Leuven, Belgium; Department of Paediatrics, University Hospitals Leuven, Leuven, Belgium.<br /><searchLink fieldCode="AU" term="%22Keung+Lam+WW%22">Keung Lam WW</searchLink>; South East of Scotland Clinical Genetics Service, Western General Hospital, Edinburgh, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Van+Den+Bogaert+K%22">Van Den Bogaert K</searchLink>; Center for Human Genetics, University Hospitals Leuven, KU Leuven, Leuven, Belgium.<br /><searchLink fieldCode="AU" term="%22Boogaerts+A%22">Boogaerts A</searchLink>; Center for Human Genetics, University Hospitals Leuven, KU Leuven, Leuven, Belgium.<br /><searchLink fieldCode="AU" term="%22Scalais+E%22">Scalais E</searchLink>; Department of Pediatric Neurology, Centre Hospitalier de Luxembourg, Luxemburg.<br /><searchLink fieldCode="AU" term="%22Besnard+T%22">Besnard T</searchLink>; Service de Génétique Médicale, CHU de Nantes, Nantes, France.<br /><searchLink fieldCode="AU" term="%22Cogne+B%22">Cogne B</searchLink>; Service de Génétique Médicale, CHU de Nantes, Nantes, France; Institut du Thorax, Nantes Université, CHU de Nantes, CNRS, INSERM, Nantes, France.<br /><searchLink fieldCode="AU" term="%22Guissard+C%22">Guissard C</searchLink>; RESTORE Research Center, Université de Toulouse, INSERM 1301, CNRS 5070, EFS, ENVT, Toulouse, France.<br /><searchLink fieldCode="AU" term="%22Rollier+P%22">Rollier P</searchLink>; Service de Génétique Clinique, Centre de Référence CLAD-Ouest, ERN ITHACA, CHU, Rennes, France; Laboratoire de Génétique Moléculaire et Génomique, CHU, Rennes, France.<br /><searchLink fieldCode="AU" term="%22Carre+W%22">Carre W</searchLink>; Laboratoire de Génétique Moléculaire et Génomique, CHU, Rennes, France.<br /><searchLink fieldCode="AU" term="%22Bouvet+R%22">Bouvet R</searchLink>; Laboratoire de Génétique Moléculaire et Génomique, CHU, Rennes, France.<br /><searchLink fieldCode="AU" term="%22Tarte+K%22">Tarte K</searchLink>; Laboratoire d'Immunologie - Thérapie Cellulaire et Hématopoïèse, CHU, Rennes, France.<br /><searchLink fieldCode="AU" term="%22Gómez-Carmona+R%22">Gómez-Carmona R</searchLink>; Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Madrid, Spain; Instituto de Investigaciones Biomédicas Alberto Sols, CSIC-Universidad Autónoma de Madrid, Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Lapunzina+P%22">Lapunzina P</searchLink>; Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Madrid, Spain; Instituto de Genética Médica y Molecular (INGEMM)-IdiPAZ, Hospital Universitario La Paz, Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Odent+S%22">Odent S</searchLink>; Service de Génétique Clinique, Centre de Référence CLAD-Ouest, ERN ITHACA, CHU, Rennes, France; Univ Rennes, CNRS, IGDR, UMR 6290, Rennes, France.<br /><searchLink fieldCode="AU" term="%22Faoucher+M%22">Faoucher M</searchLink>; Laboratoire de Génétique Moléculaire et Génomique, CHU, Rennes, France; Univ Rennes, CNRS, IGDR, UMR 6290, Rennes, France.<br /><searchLink fieldCode="AU" term="%22Dubourg+C%22">Dubourg C</searchLink>; Laboratoire de Génétique Moléculaire et Génomique, CHU, Rennes, France; Univ Rennes, CNRS, IGDR, UMR 6290, Rennes, France.<br /><searchLink fieldCode="AU" term="%22Ruiz-Pérez+VL%22">Ruiz-Pérez VL</searchLink>; Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Madrid, Spain; Instituto de Investigaciones Biomédicas Alberto Sols, CSIC-Universidad Autónoma de Madrid, Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Devriendt+K%22">Devriendt K</searchLink>; Center for Human Genetics, University Hospitals Leuven, KU Leuven, Leuven, Belgium.<br /><searchLink fieldCode="AU" term="%22Pasquier+L%22">Pasquier L</searchLink>; Service de Génétique Clinique, Centre Référence Déficiences des Intellectuelles de Cause Rares, CHU, Rennes, France.<br /><searchLink fieldCode="AU" term="%22Pérez-Jurado+LA%22">Pérez-Jurado LA</searchLink>; Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Madrid, Spain; Servicio de Genética, Hospital del Mar Research Institute (IMIM), Barcelona, Spain; Department of Medicine and Life Sciences, Universitat Pompeu Fabra, Barcelona, Spain. Electronic address: luis.perez@upf.edu.
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