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Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition.

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Title: Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition.
Authors: Mirzaa GM; Norcliffe Foundation Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA. Ghayda.Mirzaa@seattlechildrens.org.; Department of Pediatrics, University of Washington School of Medicine, Seattle, WA, USA. Ghayda.Mirzaa@seattlechildrens.org.; Brotman Baty Institute for Precision Medicine, Seattle, WA, USA. Ghayda.Mirzaa@seattlechildrens.org., Yan K; Regenerative Medicine Program, Ottawa Hospital Research Institute, Ottawa, ON, Canada., Relator R; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, Canada., Levesque M; Regenerative Medicine Program, Ottawa Hospital Research Institute, Ottawa, ON, Canada.; Department of Biochemistry, Microbiology, and Immunology, University of Ottawa, Ottawa, ON, Canada., Jayasinghe P; Regenerative Medicine Program, Ottawa Hospital Research Institute, Ottawa, ON, Canada.; Department of Cellular and Molecular Medicine, University of Ottawa, Ottawa, ON, Canada., Timpano S; Regenerative Medicine Program, Ottawa Hospital Research Institute, Ottawa, ON, Canada., Yalcin B; INSERM UMR1231, University of Bourgogne, Dijon, France., Collins S; INSERM UMR1231, University of Bourgogne, Dijon, France., Ziegler A; Service de Génétique Médicale, CHU de Toulouse, Toulouse, France., Pao E; Norcliffe Foundation Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA., Oyama N; Norcliffe Foundation Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA., Brischoux-Boucher E; Centre Génétique Humaine, Centre Hospitalier Universitaire de Besançon, Besançon, France., Piard J; Centre Génétique Humaine, Centre Hospitalier Universitaire de Besançon, Besançon, France.; INSERM UMR1231, Equipe Génétique des Anomalies du Développement, Université de Bourgogne-Franche-Comté, Dijon, France., Monaghan KG; GeneDx, Gaithersburg, MD, USA., Guillen Sacoto MJ; GeneDx, Gaithersburg, MD, USA., Dobyns WB; Department of Pediatrics, University of Minnesota, Minneapolis, MN, USA., Park KL; Departments of Pediatrics and Neurology, University of Colorado School of Medicine, Aurora CO, USA., Fernández-Mayoralas DM; Neuropediatric Department, Hospital Universitario Quirónsalud, Madrid, Spain.; Universidad Europea de Madrid, Madrid, Spain., Fernández-Jaén A; Neuropediatric Department, Hospital Universitario Quirónsalud, Madrid, Spain.; Universidad Europea de Madrid, Madrid, Spain., Jayakar P; Division of Genetics and Metabolism, Nicklaus Children's Hospital, Miami, FL, USA., Palomares-Bralo M; INGEMM-IdiPaz, Institute of Medical and Molecular Genetics, Madrid, Spain.; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, Madrid, Spain., Santos-Simarro F; Unit of Molecular Diagnostics and Clinical Genetics, Hospital Universitari Son Espases, Health Research Institute of the Balearic Islands (IdISBa), Palma, Spain., Brusco A; Department of Neurosciences Rita Levi-Montalcini, University of Turin, Turin, Italy.; Molecular Biotechnology Center 'Guido Tarrone', University of Turin, Turin, Italy.; Medical Genetics Unit, Città della Salute e della Scienza University Hospital, Turin, Italy., Antona V; Department of Health Promotion, Mother and Child Care, Internal Medicine and Medical Specialties 'G. D'Alessandro, ' University of Palermo, Palermo, Italy., Giorgio E; Department of Molecular Medicine, University of Pavia, Pavia, Italy.; Neurogenetics Research Center, IRCCS Mondino Foundation, Pavia, Italy., Kvarnung M; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden., Isidor B; Nantes Université, CHU de Nantes, CNRS, INSERM, L'institut du thorax, Nantes, France.; Nantes Université, CHU de Nantes, Service de Génétique médicale, Nantes, France., Conrad S; Nantes Université, CHU de Nantes, CNRS, INSERM, L'institut du thorax, Nantes, France.; Nantes Université, CHU de Nantes, Service de Génétique médicale, Nantes, France., Cogné B; Nantes Université, CHU de Nantes, CNRS, INSERM, L'institut du thorax, Nantes, France.; Nantes Université, CHU de Nantes, Service de Génétique médicale, Nantes, France., Deb W; Nantes Université, CHU de Nantes, CNRS, INSERM, L'institut du thorax, Nantes, France.; Nantes Université, CHU de Nantes, Service de Génétique médicale, Nantes, France., Stuurman KE; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, Netherlands., Štěrbová K; Department of Paediatric Neurology, Second Faculty of Medicine, Charles University and Motol Epilepsy Center, University Hospital Motol, Prague, Czech Republic., Smal N; Applied & Translational Neurogenomics Group, VIB Center for Molecular Neurology, VIB, Antwerp, Belgium., Weckhuysen S; Applied & Translational Neurogenomics Group, VIB Center for Molecular Neurology, VIB, Antwerp, Belgium.; Translational Neurosciences, Faculty of Medicine and Health Science, University of Antwerp, Antwerp, Belgium.; Department of Neurology, Antwerp University Hospital, Antwerp, Belgium.; µNEURO Research Centre of Excellence, University of Antwerp, Antwerp, Belgium., Oegema R; Department of Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, Netherlands., Innes AM; Departments of Medical Genetics and Pediatrics and Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, Canada., Koboldt DC; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, OH, USA., Ben-Omran T; Genetic and Genomic Medicine, Sidra, and Department of Medical Genetics, Hamad Medical Corporation, Doha, Qatar., Yeh RC; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA., Kruer MC; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ, USA.; Departments of Child Health, Neurology, and Cellular & Molecular Medicine, and Program in Genetics, University of Arizona College of Medicine-Phoenix, Phoenix, AZ, USA., Bakhtiari S; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ, USA.; Departments of Child Health, Neurology, and Cellular & Molecular Medicine, and Program in Genetics, University of Arizona College of Medicine-Phoenix, Phoenix, AZ, USA., Papavasiliou A; IASO Children's Hospital, Athens, Greece., Moutton S; Centre de Génétique Clinique, Centre de Référence Maladies Raes Anomalies du développement et Syndromes malformatifs, FHU TRANSLAD, INSERM UMR1231, CHU François Mitterrand, Dijon, France., Nambot S; Centre de Génétique Clinique, Centre de Référence Maladies Raes Anomalies du développement et Syndromes malformatifs, FHU TRANSLAD, INSERM UMR1231, CHU François Mitterrand, Dijon, France., Chanprasert S; Division of Medical Genetics, University of Washington, Seattle, WA, USA., Paolucci SA; Department of Laboratory Medicine and Pathology, University of Washington, Seattle, WA, USA., Miller K; Department of Pediatrics, University of Washington School of Medicine, Seattle, WA, USA., Burton B; Northwestern University Feinberg School of Medicine, Chicago, IL, USA.; Division of Genetics, Genomics, and Metabolism, Ann & Robert H Lurie Children's Hospital of Chicago, Chicago, IL, USA., Kim K; Northwestern University Feinberg School of Medicine, Chicago, IL, USA.; Division of Genetics, Genomics, and Metabolism, Ann & Robert H Lurie Children's Hospital of Chicago, Chicago, IL, USA., O'Heir E; Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT, Cambridge, MA, USA., Bruwer Z; Department of Paediatrics and Child Health, Red Cross War Memorial Children's Hospital, University of Cape Town, Rondebosch, South Africa., Donald KA; Department of Paediatrics and Child Health, Red Cross War Memorial Children's Hospital, University of Cape Town, Rondebosch, South Africa., Kleefstra T; Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands.; Center for excellence in neuropsychiatry, Vincent van Gogh, Venray, Netherlands., Goldstein A; Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; The Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA., Angle B; Department of Genetics, Advocate Children's Hospital, Park Ridge, IL, USA., Bontempo K; Department of Genetics, Advocate Children's Hospital, Park Ridge, IL, USA., Miny P; Medical Genetics, Institute of Medical Genetics and Pathology, University Hospital Basel, Basel, Switzerland., Joset P; Medical Genetics, Institute of Medical Genetics and Pathology, University Hospital Basel, Basel, Switzerland., Demurger F; Service de Génétique, CHBA, Vannes, France., Hobson E; Leeds Clinical Genomics Service, Chapel Allerton Hospital, Leeds Teaching Hospitals NHS Trust, Leeds, UK., Pang L; Genomics Laboratory, Royal Devon and Exeter, Exeter, UK., Carpenter L; Saint Francis Health System, Inc, Tulsa, OK, USA., Li D; The Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA., Bonneau D; Service de Génétique Médicale, CHU de Toulouse, Toulouse, France.; MitoVasc, UMR CNRS 6015-INSERM 1083, University of Angers, Angers, France., Sadikovic B; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, Canada.; Department of Pathology and Laboratory Medicine, Western University, London, ON, Canada., Picketts DJ; Regenerative Medicine Program, Ottawa Hospital Research Institute, Ottawa, ON, Canada. dpicketts@ohri.ca.; Department of Biochemistry, Microbiology, and Immunology, University of Ottawa, Ottawa, ON, Canada. dpicketts@ohri.ca.; Department of Cellular and Molecular Medicine, University of Ottawa, Ottawa, ON, Canada. dpicketts@ohri.ca.; Department of Medicine, University of Ottawa, Ottawa, ON, Canada. dpicketts@ohri.ca.
Source: Nature communications [Nat Commun] 2025 Nov 10; Vol. 16 (1), pp. 9875. Date of Electronic Publication: 2025 Nov 10.
Publication Type: Journal Article
Journal Info: Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun Subsets: MEDLINE
Database: MEDLINE Ultimate
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ISSN:2041-1723
DOI:10.1038/s41467-025-64838-5