ArticleNature communications2025
Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition.
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Article in Nature communications, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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2 citing papers in PubMed.
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Authors and funding
66 authors.
Ghayda M MirzaaNorcliffe Foundation Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA. Ghayda.Mirzaa@seattlechildrens.org.ORCID http://orcid.org/0000-0003-2648-7657
Keqin YanRegenerative Medicine Program, Ottawa Hospital Research Institute, Ottawa, ON, Canada.
Raissa RelatorVerspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, Canada.
Mathieu LevesqueRegenerative Medicine Program, Ottawa Hospital Research Institute, Ottawa, ON, Canada.
Pranisha JayasingheRegenerative Medicine Program, Ottawa Hospital Research Institute, Ottawa, ON, Canada.
Sara TimpanoRegenerative Medicine Program, Ottawa Hospital Research Institute, Ottawa, ON, Canada.
Binnaz YalcinINSERM UMR1231, University of Bourgogne, Dijon, France.ORCID http://orcid.org/0000-0002-1924-6807
Stephan CollinsINSERM UMR1231, University of Bourgogne, Dijon, France.
Alban ZieglerService de Génétique Médicale, CHU de Toulouse, Toulouse, France.
Emily PaoNorcliffe Foundation Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA.
Nora OyamaNorcliffe Foundation Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA.
Elise Brischoux-BoucherCentre Génétique Humaine, Centre Hospitalier Universitaire de Besançon, Besançon, France.
Juliette PiardCentre Génétique Humaine, Centre Hospitalier Universitaire de Besançon, Besançon, France.ORCID http://orcid.org/0000-0001-5244-5325
Kristin G MonaghanGeneDx, Gaithersburg, MD, USA.
Maria J Guillen SacotoGeneDx, Gaithersburg, MD, USA.
William B DobynsDepartment of Pediatrics, University of Minnesota, Minneapolis, MN, USA.ORCID http://orcid.org/0000-0002-7681-2844
Kristen L ParkDepartments of Pediatrics and Neurology, University of Colorado School of Medicine, Aurora CO, USA.ORCID http://orcid.org/0000-0001-5527-3047
Daniel Martin Fernández-MayoralasNeuropediatric Department, Hospital Universitario Quirónsalud, Madrid, Spain.
Alberto Fernández-JaénNeuropediatric Department, Hospital Universitario Quirónsalud, Madrid, Spain.ORCID http://orcid.org/0000-0003-3306-9832
Parul JayakarDivision of Genetics and Metabolism, Nicklaus Children's Hospital, Miami, FL, USA.
María Palomares-BraloINGEMM-IdiPaz, Institute of Medical and Molecular Genetics, Madrid, Spain.
Fernando Santos-SimarroUnit of Molecular Diagnostics and Clinical Genetics, Hospital Universitari Son Espases, Health Research Institute of the Balearic Islands (IdISBa), Palma, Spain.
Alfredo BruscoDepartment of Neurosciences Rita Levi-Montalcini, University of Turin, Turin, Italy.ORCID http://orcid.org/0000-0002-8318-7231
Vincenzo AntonaDepartment of Health Promotion, Mother and Child Care, Internal Medicine and Medical Specialties "G. D'Alessandro, " University of Palermo, Palermo, Italy.
Elisa GiorgioDepartment of Molecular Medicine, University of Pavia, Pavia, Italy.
Malin KvarnungDepartment of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.
Bertrand IsidorNantes Université, CHU de Nantes, CNRS, INSERM, L'institut du thorax, Nantes, France.
Solène ConradNantes Université, CHU de Nantes, CNRS, INSERM, L'institut du thorax, Nantes, France.
Benjamin CognéNantes Université, CHU de Nantes, CNRS, INSERM, L'institut du thorax, Nantes, France.ORCID http://orcid.org/0000-0002-5503-6292
Wallid DebNantes Université, CHU de Nantes, CNRS, INSERM, L'institut du thorax, Nantes, France.ORCID http://orcid.org/0000-0002-5103-8573
Kyra E StuurmanDepartment of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, Netherlands.
Katalin ŠtěrbováDepartment of Paediatric Neurology, Second Faculty of Medicine, Charles University and Motol Epilepsy Center, University Hospital Motol, Prague, Czech Republic.
Noor SmalApplied & Translational Neurogenomics Group, VIB Center for Molecular Neurology, VIB, Antwerp, Belgium.ORCID http://orcid.org/0000-0003-4335-1583
Sarah WeckhuysenApplied & Translational Neurogenomics Group, VIB Center for Molecular Neurology, VIB, Antwerp, Belgium.
Renske OegemaDepartment of Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, Netherlands.ORCID http://orcid.org/0000-0002-7146-617X
A Micheil InnesDepartments of Medical Genetics and Pediatrics and Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, Canada.ORCID http://orcid.org/0000-0001-9881-5467
Daniel C KoboldtThe Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, OH, USA.
Tawfeg Ben-OmranGenetic and Genomic Medicine, Sidra, and Department of Medical Genetics, Hamad Medical Corporation, Doha, Qatar.
Rebecca C YehDivision of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.
Michael C KruerPediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ, USA.ORCID http://orcid.org/0000-0002-1373-7891
Somayeh BakhtiariPediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ, USA.
Antigone PapavasiliouIASO Children's Hospital, Athens, Greece.ORCID http://orcid.org/0000-0002-1064-7954
Sébastien MouttonCentre de Génétique Clinique, Centre de Référence Maladies Raes Anomalies du développement et Syndromes malformatifs, FHU TRANSLAD, INSERM UMR1231, CHU François Mitterrand, Dijon, France.
Sophie NambotCentre de Génétique Clinique, Centre de Référence Maladies Raes Anomalies du développement et Syndromes malformatifs, FHU TRANSLAD, INSERM UMR1231, CHU François Mitterrand, Dijon, France.ORCID http://orcid.org/0000-0002-9630-5049
Sirisak ChanprasertDivision of Medical Genetics, University of Washington, Seattle, WA, USA.
Sarah A PaolucciDepartment of Laboratory Medicine and Pathology, University of Washington, Seattle, WA, USA.
Kait MillerDepartment of Pediatrics, University of Washington School of Medicine, Seattle, WA, USA.
Barbara BurtonNorthwestern University Feinberg School of Medicine, Chicago, IL, USA.
Katherine KimNorthwestern University Feinberg School of Medicine, Chicago, IL, USA.
Emily O'HeirCenter for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT, Cambridge, MA, USA.ORCID http://orcid.org/0000-0001-7669-8239
Zandre BruwerDepartment of Paediatrics and Child Health, Red Cross War Memorial Children's Hospital, University of Cape Town, Rondebosch, South Africa.
Kirsten A DonaldDepartment of Paediatrics and Child Health, Red Cross War Memorial Children's Hospital, University of Cape Town, Rondebosch, South Africa.ORCID http://orcid.org/0000-0002-0276-9660
Tjitske KleefstraDepartment of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands.
Amy GoldsteinMitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Brad AngleDepartment of Genetics, Advocate Children's Hospital, Park Ridge, IL, USA.
Kelly BontempoDepartment of Genetics, Advocate Children's Hospital, Park Ridge, IL, USA.
Peter MinyMedical Genetics, Institute of Medical Genetics and Pathology, University Hospital Basel, Basel, Switzerland.
Pascal JosetMedical Genetics, Institute of Medical Genetics and Pathology, University Hospital Basel, Basel, Switzerland.
Florence DemurgerService de Génétique, CHBA, Vannes, France.
Emma HobsonLeeds Clinical Genomics Service, Chapel Allerton Hospital, Leeds Teaching Hospitals NHS Trust, Leeds, UK.
Lewis PangGenomics Laboratory, Royal Devon and Exeter, Exeter, UK.
Lori CarpenterSaint Francis Health System, Inc, Tulsa, OK, USA.
Dong LiThe Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.ORCID http://orcid.org/0000-0002-2265-6727
Dominique BonneauService de Génétique Médicale, CHU de Toulouse, Toulouse, France.
Bekim SadikovicVerspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, Canada.ORCID http://orcid.org/0000-0001-6363-0016
David J PickettsRegenerative Medicine Program, Ottawa Hospital Research Institute, Ottawa, ON, Canada. dpicketts@ohri.ca.ORCID http://orcid.org/0000-0002-9227-2016
Funding
Rare genetic disorders in NeuroDev: Insight into the genetic and phenotypic heterogeneity of ID, ASD and ADHD in South African PopulationsU01MH119689 · NIMH · BROAD INSTITUTE, INC. · PI DONALD, KIRSTY, O'DONNELL-LURIA, ANNE · 2019 to 2023
$5.2MA powerful web-based discovery platform for rare disease geneticsR01HG009141 · NHGRI · BROAD INSTITUTE, INC. · PI QUINLAN, AARON R, REHM, HEIDI L · 2017 to 2020
$2.9MGenomic analysis of the Multiplex, Autozygous Populations in Cerebral Palsy (MAP CP) cohort: a focused approach to a complex diseaseR01NS127108 · NINDS · UNIVERSITY OF ARIZONA · PI Michael C Kruer · 2023 to 2026
$2.6MGouvernement du Canada | Canadian Institutes of Health Research (Instituts de Recherche en Santé du Canada) MOP142398Gouvernement du Canada | Canadian Institutes of Health Research (Instituts de Recherche en Santé du Canada) PJT180577NHGRI NIH HHS R01 HG009141NIMH NIH HHS U01 MH119689NINDS NIH HHS R01 NS127108
Abstract
Pathogenic variants in ATP-dependent chromatin remodeling proteins are a recurrent cause of neurodevelopmental disorders (NDDs). The NURF complex consists of BPTF and either the SMARCA5 or SMARCA1 ISWI-chromatin remodeling enzyme. Pathogenic variants in BPTF and SMARCA5 have been previously implicated in NDDs. Here, we describe 35 individuals from 26 families with de novo or maternally inherited variants in the X-linked SMARCA1 gene. This SMARCA1-related NDD is associated with a spectrum of involvement, including mild to severe ID/DD, delayed or regressive speech development, ASD features, facial dysmorphisms, and other variable features. Individuals carrying SMARCA1 truncating variants exhibit a mildly unique genome-wide DNA methylation profile and a high penetrance of macrocephaly. Genetic dissection of the NURF complex using Smarca1, Smarca5, and Bptf single and double mouse knockouts reveals the importance of NURF composition and dosage for proper forebrain development. We propose that genetic alterations affecting different NURF components, including SMARCA1, result in a NDD with a broad clinical spectrum.
Indexed as
DNA-Binding ProteinsNeurodevelopmental DisordersTranscription FactorsAdenosine TriphosphatasesAdolescentAdultAnimalsChildChild, PreschoolChromosomal Proteins, Non-HistoneFemaleHumansMaleMiceMice, KnockoutPedigreeAdenosine TriphosphatasesChromosomal Proteins, Non-HistoneDNA-Binding ProteinsSmarca5 protein, mouseTranscription Factors
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