A novel spliceosomopathy caused by de novo SF3B3 variants.

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Bibliographic Details
Title: A novel spliceosomopathy caused by de novo SF3B3 variants.
Authors: Musante L; Institute for Maternal and Child Health - IRCCS 'Burlo Garofolo', Trieste, Italy. luciana.musante@burlo.trieste.it., Janos P; CNR - Istituto Officina dei Materiali (IOM) c/o International School for Advanced Studies (SISSA), Via Bonomea 265, Trieste, 34136, Italy., Pianigiani G; Institute for Maternal and Child Health - IRCCS 'Burlo Garofolo', Trieste, Italy., Cappelli S; Molecular Pathology Group, International Centre for Genetic Engineering and Biotechnology (ICGEB), Trieste, 34149, Italy., Longo A; Molecular Pathology Group, International Centre for Genetic Engineering and Biotechnology (ICGEB), Trieste, 34149, Italy., Alves C; FDNA, Boston, MA, USA., Schwaibold EM; Institute of Human Genetics, Heidelberg University, Heidelberg, Germany., Wagner M; Institute of Human Genetics, School of Medicine and Health, Technical University of Munich, Munich, Germany.; Institute for Neurogenomics, Helmholtz Zentrum München, Neuherberg, Germany.; Division of Paediatric Neurology, Developmental Neurology, and Social Pediatrics, Dr von Hauner Children's Hospital, Munich, Germany., Costain G; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, and Program in Genetics and Genome Biology, SickKids Research Institute, Toronto, ON, Canada.; Departments of Paediatrics and of Molecular Genetics, University of Toronto, Toronto, ON, Canada., Fridriksdottir R; deCODE genetics/Amgen Inc, Reykjavik, Iceland., Stefansson K; deCODE genetics/Amgen Inc, Reykjavik, Iceland., Sulem P; deCODE genetics/Amgen Inc, Reykjavik, Iceland., Lichtenbelt KD; Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands., van Binsbergen E; Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands., van Jaarsveld RH; Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands., Brusco A; Department of Neurosciences Rita Levi-Montalcini, University of Turin, Turin, 10126, Italy.; Unit of Medical Genetics, Città della Salute e della Scienza University Hospital, Turin, 10126, Italy., Pavinato L; Department of Neurosciences Rita Levi-Montalcini, University of Turin, Turin, 10126, Italy.; Institute of Oncology Research (IOR), Bellinzona Institutes of Science (BIOS+), Bellinzona, 6500, Switzerland.; Faculty of Biomedical Sciences, Università della Svizzera Italiana, Lugano, 6900, Switzerland., Biamino E; Department of Pediatrics, Regina Margherita Children's Hospital, Turin, Italy., Spano A; Department of Pediatrics, Regina Margherita Children's Hospital, Turin, Italy., Hildebrandt CC; Department of Pediatrics, Division of Genetics and Genomics, University of North Carolina, Chapel Hill, NC, USA., Chan YM; Division of Endocrinology, Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA.; Department of Pediatrics, Harvard Medical School, Boston, MA, USA.; Broad Institute of MIT and Harvard, Cambridge, MA, USA., Groopman E; Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA., Berkenstadt M; The Danek Gertner Institute of Human Genetics, Sheba Medical Center, Tel Hashomer, Israel., Koboldt D; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, 700 Children's Drive, Columbus, OH, 43205, USA., Williamson R; Akron Children's Hospital, One Perkins Square, Akron, OH, 44308, USA., Brunner HG; Radboudumc, Department of Human Genetics, Nijmegen, the Netherlands.; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, the Netherlands., Vissers LE; Radboudumc, Department of Human Genetics, Nijmegen, the Netherlands., Torring PM; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark., Hao Q; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark., Gelb BD; Mindich Child Health and Development Institute, Departments of Pediatrics and Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Goldmuntz E; Division of Cardiology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Pediatrics, Perelman School of Medicine of the University of Pennsylvania, Philadelphia, PA, USA., Reed K; Division of Cardiology, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Bedoukian EC; Roberts Individualized Medical Genetics Center, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Vecchio D; Rare Disease and Medical Genetics Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Salzano E; Division of Medical Genetics, AOOR Villa Sofia-Cervello, Palermo, Italy., Piccione M; Division of Medical Genetics, AOOR Villa Sofia-Cervello, Palermo, Italy.; Department of Health Promotion, Mother and Child Care, Internal Medicine and Medical Specialties, University of Palermo, Palermo, Italy., Zanus C; Institute for Maternal and Child Health - IRCCS 'Burlo Garofolo', Trieste, Italy., Mio C; Department of Medicine (DMED), University of Udine, Udine, Italy., Eichler EE; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, 98195, USA.; Howard Hughes Medical Institute, University of Washington, Seattle, WA, 98195, USA., Wang T; Department of Medical Genetics, Center for Medical Genetics, School of Basic Medical Sciences, Peking University, Beijing, 100191, China.; Neuroscience Research Institute, Key Laboratory for Neuroscience, Peking University, Ministry of Education of China & National Health Commission of China, Beijing, 100191, China.; Autism Research Center, Peking University Health Science Center, Beijing, 100191, China., Patterson WG; Greenwood Genetic Center, Greenwood, SC, USA., Butler KM; Greenwood Genetic Center, Greenwood, SC, USA., Piotrowski M; Greenwood Genetic Center, Greenwood, SC, USA., Mercier S; Service de Génétique médicale, Nantes Université, CHU de Nantes, Nantes, F-44000, France.; Nantes Université, CHU de Nantes, CNRS, INSERM, l'institut du thorax, Nantes, F-44000, France., Cogné B; Service de Génétique médicale, Nantes Université, CHU de Nantes, Nantes, F-44000, France.; Nantes Université, CHU de Nantes, CNRS, INSERM, l'institut du thorax, Nantes, F-44000, France.; Laboratoire de Biologie Médicale Multi-Sites SeqOIA (laboratoire-sequoia.fr), Paris, France., Wentzensen IM; GeneDx LLC, Gaithersburg, MD, 20877, USA., Buratti E; Molecular Pathology Group, International Centre for Genetic Engineering and Biotechnology (ICGEB), Trieste, 34149, Italy., Magistrato A; CNR - Istituto Officina dei Materiali (IOM) c/o International School for Advanced Studies (SISSA), Via Bonomea 265, Trieste, 34136, Italy., Faletra F; Department of Medicine (DMED), University of Udine, Udine, Italy. flavio.faletra@asufc.sanita.fvg.it.; Institute of Medical Genetics, Azienda Sanitaria Universitaria Friuli Centrale, Udine, Italy. flavio.faletra@asufc.sanita.fvg.it.
Source: Genome medicine [Genome Med] 2026 Feb 19; Vol. 18 (1). Date of Electronic Publication: 2026 Feb 19.
Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 101475844 Publication Model: Electronic Cited Medium: Internet ISSN: 1756-994X (Electronic) Linking ISSN: 1756994X NLM ISO Abbreviation: Genome Med Subsets: MEDLINE
Database: MEDLINE Ultimate
Description
ISSN:1756-994X
DOI:10.1186/s13073-026-01610-4