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Heterozygous alterations of GTF2I at the Williams-Beuren syndrome's locus cause a neurodevelopmental disorder.

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Title: Heterozygous alterations of GTF2I at the Williams-Beuren syndrome's locus cause a neurodevelopmental disorder.
Authors: Jury J; Service de Génétique Médicale, Centre Hospitalier Universitaire de Nantes, Nantes, Pays de la Loire, France., Besnard T; Service de Génétique Médicale, Centre Hospitalier Universitaire de Nantes, Nantes, Pays de la Loire, France.; Institut du thorax, Nantes, Pays de la Loire, France., Deb W; Service de Génétique Médicale, Centre Hospitalier Universitaire de Nantes, Nantes, Pays de la Loire, France.; Institut du thorax, Nantes, France., Toutain A; Service de Génétique Médicale, Centre Hospitalier Régional Universitaire de Tours, Tours, Centre-Val de Loire, France., Gueguen P; Service de Génétique Médicale, Centre Hospitalier Régional Universitaire de Tours, Tours, Centre-Val de Loire, France., Bruel AL; Laboratoire de Génomique médicale-Centre NEOMICS, University Hospital Centre Dijon Bourgogne, Dijon, Bourgogne-Franche-Comté, France.; INSERM-Université Bourgogne, UMR1231, Dijon, Bourgogne-Franche-Comté, France., Bouman A; Department of Clinical Genetics, Erasmus MC University Medical Center Rotterdam, Rotterdam, Netherlands., Veenma D; Department of Pediatrics, Erasmus MC University Medical Center Rotterdam, Rotterdam, Netherlands.; ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus MC University Medical Center Rotterdam, Rotterdam, Netherlands., Barakat TS; Department of Clinical Genetics, Erasmus MC University Medical Center Rotterdam, Rotterdam, Netherlands.; ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus MC University Medical Center Rotterdam, Rotterdam, Netherlands., Do Souto Ferreira L; Service de Génétique Médicale, Centre Hospitalier Universitaire de Nantes, Nantes, Pays de la Loire, France., Zwijnenburg PJG; Department of Human Genetics, Amsterdam University Medical Centres, Amsterdam, Noord-Holland, Netherlands., Schuhmann S; Institute of Human Genetics, Friedrich-Alexander-Universitat Erlangen-Nurnberg, Erlangen, Bayern, Germany., Vasileiou G; Institute of Human Genetics, Friedrich-Alexander-Universitat Erlangen-Nurnberg, Erlangen, Bayern, Germany.; Centre for Rare Diseases Erlangen (ZSEER), Universitätsklinikum Erlangen, Erlangen, Bayern, Germany., Egloff M; LNEC U1084, CHU de Poitiers, Laboratoire de Génétique Biologique, Service de Génétique Médicale, F-86000, University of Poitiers, Poitiers, Nouvelle-Aquitaine, France.; GCS AURAGEN, Lyon, France., Bilan F; LNEC U1084, CHU de Poitiers, Laboratoire de Génétique Biologique, Service de Génétique Médicale, F-86000, University of Poitiers, Poitiers, Nouvelle-Aquitaine, France.; GCS AURAGEN, Lyon, France., Mercier A; Unité de Génétique Clinique, Service de Génétique Médicale, F-86000, CHU Poitiers, Poitiers, Nouvelle-Aquitaine, France., Letard P; Unité de Génétique Clinique, Service de Génétique Médicale, F-86000, CHU Poitiers, Poitiers, Nouvelle-Aquitaine, France., Leitão E; Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, Duisburg, NRW, Germany., Schroeder C; Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, Duisburg, NRW, Germany., Depienne C; Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, Duisburg, NRW, Germany., Blanc P; Multi-site Medical Biology Laboratory SeqOIA, Paris, France., Bézieau S; Service de Génétique Médicale, Centre Hospitalier Universitaire de Nantes, Nantes, Pays de la Loire, France.; Institut du thorax, Nantes, Pays de la Loire, France., Cogné B; Multi-site Medical Biology Laboratory SeqOIA, Paris, France.; Service de Génétique Médicale, Centre Hospitalier Universitaire de Nantes, Nantes, France., Isidor B; Service de Génétique Médicale, Centre Hospitalier Universitaire de Nantes, Nantes, Pays de la Loire, France bertrand.isidor@chu-nantes.fr.; Institut du thorax, Nantes, Pays de la Loire, France.
Source: Journal of medical genetics [J Med Genet] 2025 Oct 17. Date of Electronic Publication: 2025 Oct 17.
Publication Type: Journal Article
Journal Info: Publisher: British Medical Association Country of Publication: England NLM ID: 2985087R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1468-6244 (Electronic) Linking ISSN: 00222593 NLM ISO Abbreviation: J Med Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Heterozygous alterations of GTF2I at the Williams-Beuren syndrome's locus cause a neurodevelopmental disorder.
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  Data: <searchLink fieldCode="AU" term="%22Jury+J%22">Jury J</searchLink>; Service de Génétique Médicale, Centre Hospitalier Universitaire de Nantes, Nantes, Pays de la Loire, France.<br /><searchLink fieldCode="AU" term="%22Besnard+T%22">Besnard T</searchLink>; Service de Génétique Médicale, Centre Hospitalier Universitaire de Nantes, Nantes, Pays de la Loire, France.; Institut du thorax, Nantes, Pays de la Loire, France.<br /><searchLink fieldCode="AU" term="%22Deb+W%22">Deb W</searchLink>; Service de Génétique Médicale, Centre Hospitalier Universitaire de Nantes, Nantes, Pays de la Loire, France.; Institut du thorax, Nantes, France.<br /><searchLink fieldCode="AU" term="%22Toutain+A%22">Toutain A</searchLink>; Service de Génétique Médicale, Centre Hospitalier Régional Universitaire de Tours, Tours, Centre-Val de Loire, France.<br /><searchLink fieldCode="AU" term="%22Gueguen+P%22">Gueguen P</searchLink>; Service de Génétique Médicale, Centre Hospitalier Régional Universitaire de Tours, Tours, Centre-Val de Loire, France.<br /><searchLink fieldCode="AU" term="%22Bruel+AL%22">Bruel AL</searchLink>; Laboratoire de Génomique médicale-Centre NEOMICS, University Hospital Centre Dijon Bourgogne, Dijon, Bourgogne-Franche-Comté, France.; INSERM-Université Bourgogne, UMR1231, Dijon, Bourgogne-Franche-Comté, France.<br /><searchLink fieldCode="AU" term="%22Bouman+A%22">Bouman A</searchLink>; Department of Clinical Genetics, Erasmus MC University Medical Center Rotterdam, Rotterdam, Netherlands.<br /><searchLink fieldCode="AU" term="%22Veenma+D%22">Veenma D</searchLink>; Department of Pediatrics, Erasmus MC University Medical Center Rotterdam, Rotterdam, Netherlands.; ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus MC University Medical Center Rotterdam, Rotterdam, Netherlands.<br /><searchLink fieldCode="AU" term="%22Barakat+TS%22">Barakat TS</searchLink>; Department of Clinical Genetics, Erasmus MC University Medical Center Rotterdam, Rotterdam, Netherlands.; ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus MC University Medical Center Rotterdam, Rotterdam, Netherlands.<br /><searchLink fieldCode="AU" term="%22Do+Souto+Ferreira+L%22">Do Souto Ferreira L</searchLink>; Service de Génétique Médicale, Centre Hospitalier Universitaire de Nantes, Nantes, Pays de la Loire, France.<br /><searchLink fieldCode="AU" term="%22Zwijnenburg+PJG%22">Zwijnenburg PJG</searchLink>; Department of Human Genetics, Amsterdam University Medical Centres, Amsterdam, Noord-Holland, Netherlands.<br /><searchLink fieldCode="AU" term="%22Schuhmann+S%22">Schuhmann S</searchLink>; Institute of Human Genetics, Friedrich-Alexander-Universitat Erlangen-Nurnberg, Erlangen, Bayern, Germany.<br /><searchLink fieldCode="AU" term="%22Vasileiou+G%22">Vasileiou G</searchLink>; Institute of Human Genetics, Friedrich-Alexander-Universitat Erlangen-Nurnberg, Erlangen, Bayern, Germany.; Centre for Rare Diseases Erlangen (ZSEER), Universitätsklinikum Erlangen, Erlangen, Bayern, Germany.<br /><searchLink fieldCode="AU" term="%22Egloff+M%22">Egloff M</searchLink>; LNEC U1084, CHU de Poitiers, Laboratoire de Génétique Biologique, Service de Génétique Médicale, F-86000, University of Poitiers, Poitiers, Nouvelle-Aquitaine, France.; GCS AURAGEN, Lyon, France.<br /><searchLink fieldCode="AU" term="%22Bilan+F%22">Bilan F</searchLink>; LNEC U1084, CHU de Poitiers, Laboratoire de Génétique Biologique, Service de Génétique Médicale, F-86000, University of Poitiers, Poitiers, Nouvelle-Aquitaine, France.; GCS AURAGEN, Lyon, France.<br /><searchLink fieldCode="AU" term="%22Mercier+A%22">Mercier A</searchLink>; Unité de Génétique Clinique, Service de Génétique Médicale, F-86000, CHU Poitiers, Poitiers, Nouvelle-Aquitaine, France.<br /><searchLink fieldCode="AU" term="%22Letard+P%22">Letard P</searchLink>; Unité de Génétique Clinique, Service de Génétique Médicale, F-86000, CHU Poitiers, Poitiers, Nouvelle-Aquitaine, France.<br /><searchLink fieldCode="AU" term="%22Leitão+E%22">Leitão E</searchLink>; Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, Duisburg, NRW, Germany.<br /><searchLink fieldCode="AU" term="%22Schroeder+C%22">Schroeder C</searchLink>; Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, Duisburg, NRW, Germany.<br /><searchLink fieldCode="AU" term="%22Depienne+C%22">Depienne C</searchLink>; Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, Duisburg, NRW, Germany.<br /><searchLink fieldCode="AU" term="%22Blanc+P%22">Blanc P</searchLink>; Multi-site Medical Biology Laboratory SeqOIA, Paris, France.<br /><searchLink fieldCode="AU" term="%22Bézieau+S%22">Bézieau S</searchLink>; Service de Génétique Médicale, Centre Hospitalier Universitaire de Nantes, Nantes, Pays de la Loire, France.; Institut du thorax, Nantes, Pays de la Loire, France.<br /><searchLink fieldCode="AU" term="%22Cogné+B%22">Cogné B</searchLink>; Multi-site Medical Biology Laboratory SeqOIA, Paris, France.; Service de Génétique Médicale, Centre Hospitalier Universitaire de Nantes, Nantes, France.<br /><searchLink fieldCode="AU" term="%22Isidor+B%22">Isidor B</searchLink>; Service de Génétique Médicale, Centre Hospitalier Universitaire de Nantes, Nantes, Pays de la Loire, France bertrand.isidor@chu-nantes.fr.; Institut du thorax, Nantes, Pays de la Loire, France.
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