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

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Title: Variants in BSN, encoding the presynaptic protein Bassoon, result in a distinct 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, VIC, Australia; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, VIC 3052, Australia; Department of Paediatrics, University of Melbourne, Parkville, VIC 3052, Australia., Brown NJ; Australian Genomics, Melbourne, VIC, Australia; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, VIC 3052, Australia; Department of Paediatrics, University of Melbourne, Parkville, VIC 3052, Australia., Kana SL; Division of Clinical Genetics, Genomics, and Metabolism, Nicklaus Children's Hospital, Miami, FL, 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, Madrid, Spain., 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, NC, USA., Wheeler PG; Pediatric Genetics Specialty Practice, Arnold Palmer Hospital for Children, Orlando, FL, USA., Stange L; Pediatric Genetics Specialty Practice, Arnold Palmer Hospital for Children, Orlando, FL, USA., Morrison J; Pediatric Genetics Specialty Practice, Arnold Palmer Hospital for Children, Orlando, FL, 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, CO, 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, QC, 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, USA., Watson DJ; Center for Applied Genomics, Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA, USA; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA., Hakonarson H; Center for Applied Genomics, Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA, USA; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA., 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. Electronic address: ihelbig@email.chop.edu.
Corporate Authors: CHOP Birth Defects Biorepository, Penn Medicine BioBank
Source: American journal of human genetics [Am J Hum Genet] 2025 Jun 05; Vol. 112 (6), pp. 1415-1429. Date of Electronic Publication: 2025 May 19.
Publication Type: Journal Article; Research Support, N.I.H., Extramural
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: Variants in BSN, encoding the presynaptic protein Bassoon, result in a distinct 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>; 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="%22Sullivan+KR%22">Sullivan KR</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="%22Stark+Z%22">Stark Z</searchLink>; Australian Genomics, Melbourne, VIC, Australia; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, VIC 3052, Australia; Department of Paediatrics, University of Melbourne, Parkville, VIC 3052, Australia.<br /><searchLink fieldCode="AU" term="%22Brown+NJ%22">Brown NJ</searchLink>; Australian Genomics, Melbourne, VIC, Australia; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, VIC 3052, Australia; Department of Paediatrics, University of Melbourne, Parkville, VIC 3052, Australia.<br /><searchLink fieldCode="AU" term="%22Kana+SL%22">Kana SL</searchLink>; Division of Clinical Genetics, Genomics, and Metabolism, Nicklaus Children's Hospital, Miami, FL, USA.<br /><searchLink fieldCode="AU" term="%22Tuttle+A%22">Tuttle A</searchLink>; GeneDx, Gaithersburg, MD, USA.<br /><searchLink fieldCode="AU" term="%22Tenorio+J%22">Tenorio J</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Lapunzina+P%22">Lapunzina P</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Nevado+J%22">Nevado J</searchLink>; 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, Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22McDonald+MT%22">McDonald MT</searchLink>; Department of Pediatrics, Duke University Medical Center, Duke University, Durham, NC, USA.<br /><searchLink fieldCode="AU" term="%22Jensen+C%22">Jensen C</searchLink>; Children's Services, Duke University Health Center, Duke University, Durham, NC, USA.<br /><searchLink fieldCode="AU" term="%22Wheeler+PG%22">Wheeler PG</searchLink>; Pediatric Genetics Specialty Practice, Arnold Palmer Hospital for Children, Orlando, FL, USA.<br /><searchLink fieldCode="AU" term="%22Stange+L%22">Stange L</searchLink>; Pediatric Genetics Specialty Practice, Arnold Palmer Hospital for Children, Orlando, FL, USA.<br /><searchLink fieldCode="AU" term="%22Morrison+J%22">Morrison J</searchLink>; Pediatric Genetics Specialty Practice, Arnold Palmer Hospital for Children, Orlando, FL, USA.<br /><searchLink fieldCode="AU" term="%22Keren+B%22">Keren B</searchLink>; Department of Genetics, La Pitié-Salpêtrière Hospital, APHP, Sorbonne University, Paris, France.<br /><searchLink fieldCode="AU" term="%22Heide+S%22">Heide S</searchLink>; Cytogenetics Department, Cochin Hospital, Assistance Publique des Hôpitaux de Paris, Sorbonne Paris Cité, Paris Descartes University, Medical School, Paris, France.<br /><searchLink fieldCode="AU" term="%22Keating+MW%22">Keating MW</searchLink>; 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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.<br /><searchLink fieldCode="AU" term="%22Nguyen+H%22">Nguyen H</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Granadillo+J%22">Granadillo J</searchLink>; Division of Molecular and Human Genetics, Department of Pediatrics, Washington University School of Medicine in St. Louis, St. Louis, MO, USA.<br /><searchLink fieldCode="AU" term="%22Johnston+KM%22">Johnston KM</searchLink>; Department of Genetics and Metabolism, Texas Children's Hospital, Baylor College of Medicine, Houston, TX, USA.<br /><searchLink fieldCode="AU" term="%22Murali+CN%22">Murali CN</searchLink>; Department of Genetics and Metabolism, Texas Children's Hospital, Baylor College of Medicine, Houston, TX, USA.<br /><searchLink fieldCode="AU" term="%22Bosanko+K%22">Bosanko K</searchLink>; Section of Genetics and Metabolism, Department of Pediatrics, University of Arkansas for Medical Sciences, Arkansas Children's Hospital, Little Rock, AR, USA.<br /><searchLink fieldCode="AU" term="%22Burrow+TA%22">Burrow TA</searchLink>; Section of Genetics and Metabolism, Department of Pediatrics, University of Arkansas for Medical Sciences, Arkansas Children's Hospital, Little Rock, AR, USA.<br /><searchLink fieldCode="AU" term="%22Morgan+S%22">Morgan S</searchLink>; Center for Applied Genomics, Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.<br /><searchLink fieldCode="AU" term="%22Watson+DJ%22">Watson DJ</searchLink>; Center for Applied Genomics, Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA, USA; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.<br /><searchLink fieldCode="AU" term="%22Hakonarson+H%22">Hakonarson H</searchLink>; Center for Applied Genomics, Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA, USA; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.<br /><searchLink fieldCode="AU" term="%22Helbig+I%22">Helbig I</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; 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. Electronic address: ihelbig@email.chop.edu.
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