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Variants in BSN, encoding the presynaptic protein Bassoon, result in a novel neurodevelopmental disorder with a broad phenotypic range.

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Title: Variants in BSN, encoding the presynaptic protein Bassoon, result in a novel neurodevelopmental disorder with a broad phenotypic range.
Authors: Guzman SG; Department of Biochemistry, Biophysics, and Chemical Biology, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, 19104, USA.; The Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, PA, 19104, USA., Ruggiero SM; The Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, PA, 19104, USA.; Department of Biomedical and Health Informatics (DBHi), Children's Hospital of Philadelphia, Philadelphia, PA, 19146, USA.; Epilepsy and Neurodevelopmental Disorders Center (ENDD), Children's Hospital of Philadelphia, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104, USA.; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, 19104, USA., Ganesan S; The Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, PA, 19104, USA.; Department of Biomedical and Health Informatics (DBHi), Children's Hospital of Philadelphia, Philadelphia, PA, 19146, USA.; Epilepsy and Neurodevelopmental Disorders Center (ENDD), Children's Hospital of Philadelphia, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104, USA.; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, 19104, USA., Ellis CA; The Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, PA, 19104, USA.; Epilepsy and Neurodevelopmental Disorders Center (ENDD), Children's Hospital of Philadelphia, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104, USA.; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, 19104, USA.; Department of Neurology, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, 19104, USA., Harrison AG; The Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, PA, 19104, USA.; Department of Biomedical and Health Informatics (DBHi), Children's Hospital of Philadelphia, Philadelphia, PA, 19146, USA.; Epilepsy and Neurodevelopmental Disorders Center (ENDD), Children's Hospital of Philadelphia, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104, USA.; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, 19104, USA., Sullivan KR; The Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, PA, 19104, USA.; Department of Biomedical and Health Informatics (DBHi), Children's Hospital of Philadelphia, Philadelphia, PA, 19146, USA.; Epilepsy and Neurodevelopmental Disorders Center (ENDD), Children's Hospital of Philadelphia, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104, USA.; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, 19104, USA., Stark Z; Australian Genomics, Melbourne, Australia.; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, Victoria, 3052, Australia.; Department of Paediatrics, University of Melbourne, Parkville, Victoria, 3052, Australia., Brown NJ; Australian Genomics, Melbourne, Australia.; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, Victoria, 3052, Australia.; Department of Paediatrics, University of Melbourne, Parkville, Victoria, 3052, Australia., Kana SL; Division of Clinical Genetics, Genomics, and Metabolism, Nicklaus Children's Hospital, Miami, USA., Tuttle A; GeneDx, Gaithersburg, MD, USA., Tenorio J; Instituto de Genética Médica y Molecular (INGEMM), Hospital Universitario La Paz-IDIPAZ, 28046 Madrid, Spain.; Centre for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain., Lapunzina P; Instituto de Genética Médica y Molecular (INGEMM), Hospital Universitario La Paz-IDIPAZ, 28046 Madrid, Spain.; Centre for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain., Nevado J; Instituto de Genética Médica y Molecular (INGEMM), Hospital Universitario La Paz-IDIPAZ, 28046 Madrid, Spain.; Centre for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain.; ERN-ITHACA-European Reference Network., McDonald MT; Department of Pediatrics, Duke University Medical Center, Duke University, Durham, NC, USA., Jensen C; Children's Services, Duke University Health Center, Duke University, Durham, North Carolina, USA., Wheeler PG; Pediatric Genetics Specialty Practice, Arnold Palmer Hospital for Children, Orlando, Florida, USA., Stange L; Pediatric Genetics Specialty Practice, Arnold Palmer Hospital for Children, Orlando, Florida, USA., Morrison J; Pediatric Genetics Specialty Practice, Arnold Palmer Hospital for Children, Orlando, Florida, USA., Keren B; Department of Genetics, La Pitié-Salpêtrière Hospital, APHP, Sorbonne University, Paris, France., Heide S; Cytogenetics department, Cochin Hospital, Assistance Publique des Hôpitaux de Paris; Sorbonne Paris Cité, Paris Descartes University, Medical school, Paris, France., Keating MW; Greenwood Genetics Center, Greenwood, SC, USA., Butler KM; Greenwood Genetics Center, Greenwood, SC, USA., Lyons MA; Greenwood Genetics Center, Greenwood, SC, USA.; Mycobacteria Research Laboratories, Department of Microbiology, Immunology and Pathology, Colorado State Universitygrid.47894.36, Fort Collins, Colorado, USA., Jain S; Department of Medical Genetics, University of Alberta, Edmonton, AB, Canada., Yeganeh M; Division of Medical Genetics, Department of Pediatrics, Faculty of Medicine, Centre Hospitalier Universitaire de Québec, Centre Mère-Enfant Soleil Université Laval Québec City Québec Canada., Thompson ML; Department of Pathology and Immunology, Division of Laboratory and Genomic Medicine, Washington University School of Medicine, St. Louis, MO, USA., Schroeder M; Department of Pathology and Immunology, Division of Laboratory and Genomic Medicine, Washington University School of Medicine, St. Louis, MO, USA.; Division of Molecular and Human Genetics, Department of Pediatrics, Washington University School of Medicine in St. Louis, St. Louis, MO, USA., Nguyen H; Department of Pathology and Immunology, Division of Laboratory and Genomic Medicine, Washington University School of Medicine, St. Louis, MO, USA.; Division of Molecular and Human Genetics, Department of Pediatrics, Washington University School of Medicine in St. Louis, St. Louis, MO, USA., Granadillo J; Division of Molecular and Human Genetics, Department of Pediatrics, Washington University School of Medicine in St. Louis, St. Louis, MO, USA., Johnston KM; Department of Genetics and Metabolism, Texas Children's Hospital, Baylor College of Medicine, Houston, TX, USA., Murali CN; Department of Genetics and Metabolism, Texas Children's Hospital, Baylor College of Medicine, Houston, TX, USA., Bosanko K; Section of Genetics and Metabolism, Department of Pediatrics, University of Arkansas for Medical Sciences, Arkansas Children's Hospital, Little Rock, AR, USA., Burrow TA; Section of Genetics and Metabolism, Department of Pediatrics, University of Arkansas for Medical Sciences, Arkansas Children's Hospital, Little Rock, AR, USA., Morgan S; Center for Applied Genomics, Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA, United States of America., Watson DJ; Center for Applied Genomics, Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA, United States of America.; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, United States of America., Hakonarson H; Center for Applied Genomics, Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA, United States of America.; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, United States of America., Helbig I; Department of Biochemistry, Biophysics, and Chemical Biology, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, 19104, USA.; The Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, PA, 19104, USA.; Department of Biomedical and Health Informatics (DBHi), Children's Hospital of Philadelphia, Philadelphia, PA, 19146, USA.; Epilepsy and Neurodevelopmental Disorders Center (ENDD), Children's Hospital of Philadelphia, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104, USA.; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, 19104, USA.; Department of Neurology, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, 19104, USA.
Corporate Authors: CHOP Birth Defects Biorepository, Penn Medicine Biobank
Source: MedRxiv : the preprint server for health sciences [medRxiv] 2025 Feb 12. Date of Electronic Publication: 2025 Feb 12.
Publication Type: Journal Article; Preprint
Journal Info: Country of Publication: United States NLM ID: 101767986 Publication Model: Electronic Cited Medium: Internet NLM ISO Abbreviation: medRxiv Subsets: PubMed not MEDLINE
Database: MEDLINE Ultimate
FullText Text:
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  Data: Variants in BSN, encoding the presynaptic protein Bassoon, result in a novel neurodevelopmental disorder with a broad phenotypic range.
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  Data: <searchLink fieldCode="AU" term="%22Guzman+SG%22">Guzman SG</searchLink>; Department of Biochemistry, Biophysics, and Chemical Biology, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, 19104, USA.; The Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, PA, 19104, USA.<br /><searchLink fieldCode="AU" term="%22Ruggiero+SM%22">Ruggiero SM</searchLink>; The Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, PA, 19104, USA.; Department of Biomedical and Health Informatics (DBHi), Children's Hospital of Philadelphia, Philadelphia, PA, 19146, USA.; Epilepsy and Neurodevelopmental Disorders Center (ENDD), Children's Hospital of Philadelphia, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104, USA.; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, 19104, USA.<br /><searchLink fieldCode="AU" term="%22Ganesan+S%22">Ganesan S</searchLink>; The Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, PA, 19104, USA.; Department of Biomedical and Health Informatics (DBHi), Children's Hospital of Philadelphia, Philadelphia, PA, 19146, USA.; Epilepsy and Neurodevelopmental Disorders Center (ENDD), Children's Hospital of Philadelphia, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104, USA.; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, 19104, USA.<br /><searchLink fieldCode="AU" term="%22Ellis+CA%22">Ellis CA</searchLink>; The Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, PA, 19104, USA.; Epilepsy and Neurodevelopmental Disorders Center (ENDD), Children's Hospital of Philadelphia, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104, USA.; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, 19104, USA.; Department of Neurology, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, 19104, USA.<br /><searchLink fieldCode="AU" term="%22Harrison+AG%22">Harrison AG</searchLink>; 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