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Bi-allelic variants in FSD1L cause a neurodevelopmental disorder overlapping with L1 syndrome.

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Title: Bi-allelic variants in FSD1L cause a neurodevelopmental disorder overlapping with L1 syndrome.
Authors: Serpieri V; Department of Molecular Medicine, University of Pavia, 27100 Pavia, Italy., Vezain-Mouchard M; Univ Rouen Normandie, INSERM U1245 and CHU Rouen, Department of Genetics and Reference Center for Developmental Disorders, 76000 Rouen, France., Orsi A; Department of Molecular Medicine, University of Pavia, 27100 Pavia, Italy., Lecointre M; Univ Rouen Normandie, INSERM U1245, 76000 Rouen, France., Mazzotta C; Department of Molecular Medicine, University of Pavia, 27100 Pavia, Italy., Marguet F; Univ Rouen Normandie, INSERM U1245 and CHU Rouen, Department of Pathology, 76000 Rouen, France., Garbelli A; Institute of Molecular Genetics 'Luigi Luca Cavalli-Sforza', National Research Council (IGM-CNR), 27100 Pavia, Italy., Marcorelles P; CHU Brest, Department of Pathology, 29200 Brest, France., Celli L; Institute of Molecular Genetics 'Luigi Luca Cavalli-Sforza', National Research Council (IGM-CNR), 27100 Pavia, Italy., Goldenberg A; Univ Rouen Normandie, INSERM U1245 and CHU Rouen, Department of Genetics and Reference Center for Developmental Disorders, 76000 Rouen, France; CH Le Havre, Department of Genetics, 76600 Le Havre, France., De Mori R; Induced Pluripotent Stem Cells and Organoids Unit, IRCCS Santa Luicia Foundation, 00179 Rome, Italy., Drouot N; Univ Rouen Normandie, INSERM U1245 and CHU Rouen, Department of Genetics and Reference Center for Developmental Disorders, 76000 Rouen, France., Petrizzelli F; Bioinformatics Laboratory, IRCSS Casa Sollievo Della Sofferenza, 71013 S. Giovanni Rotondo (FG), Italy., Janin F; Univ Rouen Normandie, INSERM U1245, 76000 Rouen, France., Nicolas G; Univ Rouen Normandie, INSERM U1245 and CHU Rouen, Department of Genetics and Reference Center for Developmental Disorders, 76000 Rouen, France., Smal N; Translational Epilepsy Genomics Group, VIB Center for Molecular Neurology, VIB, 2610 Antwerp, Belgium., Condoluci C; Developmental Disabilities and Rehabilitation, IRCCS San Raffaele Roma, 00166 Rome, Italy., Marini C; Child Neurology and Psychiatric Unit, G. Salesi Pediatric Hospital, Azienda Ospedaliera-Universitaria Delle Marche, 60126 Ancona, Italy., Tran-Mau-Them F; Unité Fonctionnelle Innovation en Diagnostic Génomique des maladies rares, CHU Dijon Bourgogne, and INSERM UMR1231 GAD, 21079 Dijon, France., Ruault V; Reference Center for Rare Diseases Developmental Anomaly and Malformative Syndromes, Genetics Department, Montpellier Hospital, 34000 Montpellier, France., Micalizzi A; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, 00146 Rome, Italy; Medical Genetics Unit, San Pietro Fatebenefratelli Hospital, 00189 Rome, Italy., Bione S; Institute of Molecular Genetics 'Luigi Luca Cavalli-Sforza', National Research Council (IGM-CNR), 27100 Pavia, Italy., Mazza T; Computational Biology and Bioinformatics Unit, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, 00168 Rome, Italy., Pichiecchio A; Department of Brain and Behavioral Sciences, University of Pavia, 27100 Pavia, Italy; Neuroradiology Department, IRCCS Mondino Foundation, 27100 Pavia, Italy., Ginevrino M; Parkinson and Movement Disorders Unit, Study Center on Neurodegeneration (CESNE), Department of Neurosciences, University of Padua, 35121 Padua, Italy., Weckhuysen S; Translational Epilepsy Genomics Group, VIB Center for Molecular Neurology, VIB, 2610 Antwerp, Belgium; Translational Neurosciences, Faculty of Medicine and Health Science, University of Antwerp, 2610 Antwerp, Belgium; Department of Neurology, University Hospital, 2650 Antwerp, Belgium., Bedois A; Service de Génétique, Eurofins Biomnis, Lyon, France., Desnous B; Department of Pediatric Neurology, Aix-Marseille University, Marseille, France., Hermitte L; Neuroradiology Department at Timone Hospital, Aix-Marseille University, Marseille, France., Rabie G; Hereditary Research Laboratory, Bethlehem University, Bethlehem, Palestine., Kanaan M; Hereditary Research Laboratory, Bethlehem University, Bethlehem, Palestine., Gonzalez BJ; Univ Rouen Normandie, INSERM U1245, 76000 Rouen, France., Sabbioneda S; Institute of Molecular Genetics 'Luigi Luca Cavalli-Sforza', National Research Council (IGM-CNR), 27100 Pavia, Italy., Laquerrière A; Univ Rouen Normandie, INSERM U1245 and CHU Rouen, Department of Pathology, 76000 Rouen, France., Saugier-Veber P; Univ Rouen Normandie, INSERM U1245 and CHU Rouen, Department of Genetics and Reference Center for Developmental Disorders, 76000 Rouen, France., Valente EM; Department of Molecular Medicine, University of Pavia, 27100 Pavia, Italy; Neurogenetics Research Center, IRCCS Mondino Foundation, 27100 Pavia, Italy. Electronic address: enzamaria.valente@unipv.it.
Source: American journal of human genetics [Am J Hum Genet] 2026 Mar 05; Vol. 113 (3), pp. 600-615. Date of Electronic Publication: 2026 Feb 19.
Publication Type: Journal Article
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
Database: MEDLINE Ultimate
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  Data: Bi-allelic variants in FSD1L cause a neurodevelopmental disorder overlapping with L1 syndrome.
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  Data: <searchLink fieldCode="AU" term="%22Serpieri+V%22">Serpieri V</searchLink>; Department of Molecular Medicine, University of Pavia, 27100 Pavia, Italy.<br /><searchLink fieldCode="AU" term="%22Vezain-Mouchard+M%22">Vezain-Mouchard M</searchLink>; Univ Rouen Normandie, INSERM U1245 and CHU Rouen, Department of Genetics and Reference Center for Developmental Disorders, 76000 Rouen, France.<br /><searchLink fieldCode="AU" term="%22Orsi+A%22">Orsi A</searchLink>; Department of Molecular Medicine, University of Pavia, 27100 Pavia, Italy.<br /><searchLink fieldCode="AU" term="%22Lecointre+M%22">Lecointre M</searchLink>; Univ Rouen Normandie, INSERM U1245, 76000 Rouen, France.<br /><searchLink fieldCode="AU" term="%22Mazzotta+C%22">Mazzotta C</searchLink>; Department of Molecular Medicine, University of Pavia, 27100 Pavia, Italy.<br /><searchLink fieldCode="AU" term="%22Marguet+F%22">Marguet F</searchLink>; Univ Rouen Normandie, INSERM U1245 and CHU Rouen, Department of Pathology, 76000 Rouen, France.<br /><searchLink fieldCode="AU" term="%22Garbelli+A%22">Garbelli A</searchLink>; Institute of Molecular Genetics 'Luigi Luca Cavalli-Sforza', National Research Council (IGM-CNR), 27100 Pavia, Italy.<br /><searchLink fieldCode="AU" term="%22Marcorelles+P%22">Marcorelles P</searchLink>; CHU Brest, Department of Pathology, 29200 Brest, France.<br /><searchLink fieldCode="AU" term="%22Celli+L%22">Celli L</searchLink>; Institute of Molecular Genetics 'Luigi Luca Cavalli-Sforza', National Research Council (IGM-CNR), 27100 Pavia, Italy.<br /><searchLink fieldCode="AU" term="%22Goldenberg+A%22">Goldenberg A</searchLink>; Univ Rouen Normandie, INSERM U1245 and CHU Rouen, Department of Genetics and Reference Center for Developmental Disorders, 76000 Rouen, France; CH Le Havre, Department of Genetics, 76600 Le Havre, France.<br /><searchLink fieldCode="AU" term="%22De+Mori+R%22">De Mori R</searchLink>; Induced Pluripotent Stem Cells and Organoids Unit, IRCCS Santa Luicia Foundation, 00179 Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Drouot+N%22">Drouot N</searchLink>; Univ Rouen Normandie, INSERM U1245 and CHU Rouen, Department of Genetics and Reference Center for Developmental Disorders, 76000 Rouen, France.<br /><searchLink fieldCode="AU" term="%22Petrizzelli+F%22">Petrizzelli F</searchLink>; Bioinformatics Laboratory, IRCSS Casa Sollievo Della Sofferenza, 71013 S. Giovanni Rotondo (FG), Italy.<br /><searchLink fieldCode="AU" term="%22Janin+F%22">Janin F</searchLink>; Univ Rouen Normandie, INSERM U1245, 76000 Rouen, France.<br /><searchLink fieldCode="AU" term="%22Nicolas+G%22">Nicolas G</searchLink>; Univ Rouen Normandie, INSERM U1245 and CHU Rouen, Department of Genetics and Reference Center for Developmental Disorders, 76000 Rouen, France.<br /><searchLink fieldCode="AU" term="%22Smal+N%22">Smal N</searchLink>; Translational Epilepsy Genomics Group, VIB Center for Molecular Neurology, VIB, 2610 Antwerp, Belgium.<br /><searchLink fieldCode="AU" term="%22Condoluci+C%22">Condoluci C</searchLink>; Developmental Disabilities and Rehabilitation, IRCCS San Raffaele Roma, 00166 Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Marini+C%22">Marini C</searchLink>; Child Neurology and Psychiatric Unit, G. Salesi Pediatric Hospital, Azienda Ospedaliera-Universitaria Delle Marche, 60126 Ancona, Italy.<br /><searchLink fieldCode="AU" term="%22Tran-Mau-Them+F%22">Tran-Mau-Them F</searchLink>; Unité Fonctionnelle Innovation en Diagnostic Génomique des maladies rares, CHU Dijon Bourgogne, and INSERM UMR1231 GAD, 21079 Dijon, France.<br /><searchLink fieldCode="AU" term="%22Ruault+V%22">Ruault V</searchLink>; Reference Center for Rare Diseases Developmental Anomaly and Malformative Syndromes, Genetics Department, Montpellier Hospital, 34000 Montpellier, France.<br /><searchLink fieldCode="AU" term="%22Micalizzi+A%22">Micalizzi A</searchLink>; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, 00146 Rome, Italy; Medical Genetics Unit, San Pietro Fatebenefratelli Hospital, 00189 Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Bione+S%22">Bione S</searchLink>; Institute of Molecular Genetics 'Luigi Luca Cavalli-Sforza', National Research Council (IGM-CNR), 27100 Pavia, Italy.<br /><searchLink fieldCode="AU" term="%22Mazza+T%22">Mazza T</searchLink>; Computational Biology and Bioinformatics Unit, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, 00168 Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Pichiecchio+A%22">Pichiecchio A</searchLink>; Department of Brain and Behavioral Sciences, University of Pavia, 27100 Pavia, Italy; Neuroradiology Department, IRCCS Mondino Foundation, 27100 Pavia, Italy.<br /><searchLink fieldCode="AU" term="%22Ginevrino+M%22">Ginevrino M</searchLink>; Parkinson and Movement Disorders Unit, Study Center on Neurodegeneration (CESNE), Department of Neurosciences, University of Padua, 35121 Padua, Italy.<br /><searchLink fieldCode="AU" term="%22Weckhuysen+S%22">Weckhuysen S</searchLink>; Translational Epilepsy Genomics Group, VIB Center for Molecular Neurology, VIB, 2610 Antwerp, Belgium; Translational Neurosciences, Faculty of Medicine and Health Science, University of Antwerp, 2610 Antwerp, Belgium; Department of Neurology, University Hospital, 2650 Antwerp, Belgium.<br /><searchLink fieldCode="AU" term="%22Bedois+A%22">Bedois A</searchLink>; Service de Génétique, Eurofins Biomnis, Lyon, France.<br /><searchLink fieldCode="AU" term="%22Desnous+B%22">Desnous B</searchLink>; Department of Pediatric Neurology, Aix-Marseille University, Marseille, France.<br /><searchLink fieldCode="AU" term="%22Hermitte+L%22">Hermitte L</searchLink>; Neuroradiology Department at Timone Hospital, Aix-Marseille University, Marseille, France.<br /><searchLink fieldCode="AU" term="%22Rabie+G%22">Rabie G</searchLink>; Hereditary Research Laboratory, Bethlehem University, Bethlehem, Palestine.<br /><searchLink fieldCode="AU" term="%22Kanaan+M%22">Kanaan M</searchLink>; Hereditary Research Laboratory, Bethlehem University, Bethlehem, Palestine.<br /><searchLink fieldCode="AU" term="%22Gonzalez+BJ%22">Gonzalez BJ</searchLink>; Univ Rouen Normandie, INSERM U1245, 76000 Rouen, France.<br /><searchLink fieldCode="AU" term="%22Sabbioneda+S%22">Sabbioneda S</searchLink>; Institute of Molecular Genetics 'Luigi Luca Cavalli-Sforza', National Research Council (IGM-CNR), 27100 Pavia, Italy.<br /><searchLink fieldCode="AU" term="%22Laquerrière+A%22">Laquerrière A</searchLink>; Univ Rouen Normandie, INSERM U1245 and CHU Rouen, Department of Pathology, 76000 Rouen, France.<br /><searchLink fieldCode="AU" term="%22Saugier-Veber+P%22">Saugier-Veber P</searchLink>; Univ Rouen Normandie, INSERM U1245 and CHU Rouen, Department of Genetics and Reference Center for Developmental Disorders, 76000 Rouen, France.<br /><searchLink fieldCode="AU" term="%22Valente+EM%22">Valente EM</searchLink>; Department of Molecular Medicine, University of Pavia, 27100 Pavia, Italy; Neurogenetics Research Center, IRCCS Mondino Foundation, 27100 Pavia, Italy. Electronic address: enzamaria.valente@unipv.it.
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