ArticleGenetics in medicine : official journal of the American College of Medical Genetics2022
Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort.
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Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 9 papers.
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9citing papers in PubMed
1.7field-weighted citation impact, top 15% of its field
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Who cites it
9 citing papers in PubMed, 20 citations in OpenAlex.
- Identification of the Genomic Etiology of Unexplained Congenital Problems in Pediatric Patients: First Reported Case With Coffin-Siris Syndrome and Sialuria From India.Clinical case reports · 2026Article
- SMARCB1-related schwannomatosis and other SMARCB1-associated phenotypes: clinical spectrum and molecular pathogenesis.Familial cancer · 2025Review
- Fetal Corpus Callosum Anomalies: A Review of Underlying Genetic Disorders and Prenatal Testing Options.Journal of ultrasound in medicine : official journal of the American Institute of Ultrasound in Medicine · 2025Review
- ARID1A-BAF coordinates ZIC2 genomic occupancy for epithelial-to-mesenchymal transition in cranial neural crest specification.American journal of human genetics · 2024Article
- SWI/SNF Complex in Vascular Smooth Muscle Cells and Its Implications in Cardiovascular Pathologies.Cells · 2024Review
- A Carboxy-terminal Smarcb1 Point Mutation Induces Hydrocephalus Formation and Affects AP-1 and Neuronal Signalling Pathways in Mice.Cellular and molecular neurobiology · 2023Article
- Landscape of mSWI/SNF chromatin remodeling complex perturbations in neurodevelopmental disorders.Nature genetics · 2023Article
- Evidence for an association between Coffin-Siris syndrome and congenital diaphragmatic hernia.American journal of medical genetics. Part A · 2022Review
- Prenatal Coffin-Siris Syndrome: Expanding the Phenotypic and Genotypic Spectrum of the Disease.Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology SocietyArticle
Corrections and comments
- Erratum issued
Authors and funding
55 authors at 20 institutions in 10 countries.
Pleuntje J van der SluijsDepartment of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
Marieke JoostenDepartment of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, The Netherlands.
Caroline AlbyDepartment of Histo-Embryology and Cytogenetics, Necker-Enfants Malades Hospital, AP-HP, Paris, France; National Institute of Health and Medical Research (INSERM), University of Paris, Imagine Institute, Paris, France.
Tania Attié-BitachDepartment of Histo-Embryology and Cytogenetics, Necker-Enfants Malades Hospital, AP-HP, Paris, France; National Institute of Health and Medical Research (INSERM), University of Paris, Imagine Institute, Paris, France.
Kelly GilmoreDepartment of Obstetrics and Gynecology, Division of Maternal-Fetal Medicine, University of North Carolina School of Medicine, Chapel Hill, NC.
Christele DubourgDepartment of Molecular Genetics and Genomics, Rennes University Hospital Center (CHU), Rennes, France.
Mélanie FradinDepartment of Clinical Genetics, Centre de Référence Maladies Rares Anomalies du Développement, CHU de Rennes, Rennes, France.
Tianyun WangDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA.
Evangeline C Kurtz-NelsonDepartment of Psychiatry and Behavioral Sciences, University of Washington, Seattle, WA.
Kaitlyn P AhlersDepartment of Psychiatry and Behavioral Sciences, University of Washington, Seattle, WA.
Peer ArtsDepartment of Genetics and Molecular Pathology, Centre for Cancer Biology, An Alliance Between SA Pathology and the University of South Australia, Adelaide, South Australia, Australia.
Christopher P BarnettPaediatric and Reproductive Genetics Unit, Women's and Children's Hospital, North Adelaide, South Australia, Australia; School of Medicine, University of Adelaide, Adelaide, South Australia, Australia.
Myla AshfaqDepartment of Pediatrics, Division of Medical Genetics, McGovern Medical School, University of Texas Health Science Center at Houston, Houston, TX.
Anwar BabanDepartment of Pediatric Cardiology and Cardiac Surgery, Bambino Gesù Children's Hospital and Research Institute, Scientific Institute for Research, Hospitalization and Healthcare, Rome, Italy.
Myrthe van den BornDepartment of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, The Netherlands.
Sarah BorrieDepartment of Pediatrics, Division of Medical Genetics, McGovern Medical School, University of Texas Health Science Center at Houston, Houston, TX.
Tiffany BusaService de Génétique Médicale, Hôpital de la Timone, APHM, Marseille, France; Department of Medical Genetics, Timone Hospital, APHM, Marseille, France.
Alicia ByrneDepartment of Genetics and Molecular Pathology, Centre for Cancer Biology, An Alliance Between SA Pathology and the University of South Australia, Adelaide, South Australia, Australia; Australian Genomics, Parkville, Victoria, Australia.
Miriam CarrieroMedical Genetics, University of Siena, Siena, Italy.
Claudia CesarioMedical Genetics Lab, Bambino Gesù Children's Hospital and Research Institute, Scientific Institute for Research, Hospitalization and Healthcare, Rome, Italy.
Karen ChongThe Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada; Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.
Anna Maria Cueto-GonzálezDepartment of Clinical and Molecular Genetics, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain.
Jennifer C DempseyDepartment of Pediatrics, University of Washington, Seattle, WA.
Karin E M DiderichDepartment of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, The Netherlands.
Dan DohertyDepartment of Pediatrics, University of Washington, Seattle, WA; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA.
Stense FarholtDepartment of Children and Adolescents, University Hospital Rigshospitalet, Copenhagen, Denmark.
Erica H GerkesDepartment of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.
Svetlana GorokhovaService de Génétique Médicale, Hôpital de la Timone, APHM, Marseille, France; Department of Medical Genetics, Timone Hospital, APHM, Marseille, France; Aix Marseille University, INSERM, Marseille Medical Genetics, U 1251, Marseille, France.
Lutgarde C P GovaertsDepartment of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, The Netherlands.
Pernille A GregersenDepartment of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark; Pediatrics and Adolescent Medicine, Centre for Rare Diseases, Aarhus University Hospital, Aarhus, Denmark.
Scott E HickeyDivision of Genetic & Genomic Medicine, Nationwide Children's Hospital, Columbus, OH; Department of Pediatrics, The Ohio State University College of Medicine, Columbus, OH.
Mathilde LefebvreInserm UMR 1231 GAD, Genetics of Developmental Anomalies, F21000 Dijon, France; Functional Unit of Fœtal Pathology, Pathological Anatomy Department, CHR Orleans, Orleans, France.
Francesca MariMedical Genetics, University of Siena, Siena, Italy.
Jelena MartinovicDepartment of Histo-Embryology and Cytogenetics, Necker-Enfants Malades Hospital, AP-HP, Paris, France; Unit of Fetal Pathology, Antoine Beclere Hospital, AP-HP, Clamart, France.
Hope NorthrupDepartment of Pediatrics, Division of Medical Genetics, McGovern Medical School, University of Texas Health Science Center at Houston, Houston, TX.
Melanie O'LearyBroad Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA.
Kareesma ParbhooDivision of Genetic & Genomic Medicine, Nationwide Children's Hospital, Columbus, OH.
Sophie PatrierDepartment of Pathology, CHU Charles Nicolle, Rouen, France.
Bernt PoppInstitute of Human Genetics, University Hospital Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.
Fernando Santos-SimarroInstitute of Medical and Molecular Genetics, Hospital Universitario La Paz, Hospital La Paz Institute for Health Research, Centre for Biomedical Network Research on Rare Diseases, Instituto de Salud Carlos III, Madrid, Spain.
Corinna StoltenburgDepartment of Neuropaediatrics, Charité - Berlin University of Medicine, Berlin, Germany.
Christel Thauvin-RobinetInserm UMR 1231 GAD, Genetics of Developmental Anomalies, F21000 Dijon, France; Reference Center for Rare Diseases, « Intellectual Disabilities from rare causes », CHU Dijon Bourgogne, F21000 Dijon, France.
Elisabeth ThompsonPaediatric and Reproductive Genetics Unit, Women's and Children's Hospital, North Adelaide, South Australia, Australia; School of Medicine, University of Adelaide, Adelaide, South Australia, Australia.
Anneke T Vulto-van SilfhoutDepartment of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.
Farah R ZahirDepartment of Medical Genetics, University of British Columbia, Children's and Women's Hospital, Vancouver, British Columbia, Canada.
Hamish S ScottDepartment of Genetics and Molecular Pathology, Centre for Cancer Biology, An Alliance Between SA Pathology and the University of South Australia, Adelaide, South Australia, Australia; School of Medicine, University of Adelaide, Adelaide, South Australia, Australia; Australian Genomics, Parkville, Victoria, Australia; ACRF Cancer Genomics Facility, Centre for Cancer Biology, An Alliance Between SA Pathology and the University of South Australia, Adelaide, South Australia, Australia.
Rachel K EarlDepartment of Psychiatry and Behavioral Sciences, University of Washington, Seattle, WA.
Evan E EichlerDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA; Howard Hughes Medical Institute, University of Washington, Seattle, WA.
Neeta L VoraDepartment of Obstetrics and Gynecology, Division of Maternal-Fetal Medicine, University of North Carolina School of Medicine, Chapel Hill, NC.
Yael WilnaiGenetic Institute, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.
Jessica L GiordanoInstitute for Genomic Medicine, Columbia University Medical Center, New York, NY; Division of Maternal-Fetal Medicine, Department of Obstetrics and Gynecology, Columbia University Vagelos Medical Center, New York, NY.
Ronald J WapnerInstitute for Genomic Medicine, Columbia University Medical Center, New York, NY; Division of Maternal-Fetal Medicine, Department of Obstetrics and Gynecology, Columbia University Vagelos Medical Center, New York, NY.
Jill A RosenfeldDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Baylor Genetics Laboratories, Houston, TX.
Monique C HaakDepartment of Obstetrics and Fetal Medicine, Leiden University Medical Center, Leiden, Netherlands.
Gijs W E SantenDepartment of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands. Electronic address: santen@lumc.nl.
University of Washington · USErasmus MC · NLHôpital Necker-Enfants Malades · FRInserm · FRLeiden University Medical Center · NLSouth Australia Pathology · AUBambino Gesù Children's Hospital · ITCentre Hospitalier Universitaire de Rennes · FRColumbia University Irving Medical Center · USNationwide Children's Hospital · USUniversity of North Carolina at Chapel Hill · USUniversity of Siena · ITWomen's and Children's Hospital · AUAarhus University Hospital · DKBaylor College of Medicine · USBroad Institute · USCharité - Universitätsmedizin Berlin · DEFriedrich-Alexander-Universität Erlangen-Nürnberg · DEHôpital Charles-Nicolle · FRHôpital de la Timone · FR
Funding
Joint Center for Mendelian GenomicsUM1HG008900 · NHGRI · BROAD INSTITUTE, INC. · PI O'DONNELL-LURIA, ANNE, REHM, HEIDI L · 2016 to 2020
$16.5MMechanisms of Brain Dysmorphology in MN1 C-Terminal Truncation Syndrome, a Novel Intellectual Developmental Disability Disorder P50HD103524 · NICHD · UNIVERSITY OF WASHINGTON · PI DANIEL DOHERTY · 2020 to 2026
$9.9MSporadic Mutations and Autism Spectrum DisordersR01MH101221 · NIMH · UNIVERSITY OF WASHINGTON · PI EICHLER, EVAN · 2013 to 2025
$9.2MUnmet Needs: Achieving Equity and Support for Parents Pursuing Prenatal Diagnosis in the Genomic EraR01HD105868 · NICHD · UNIV OF NORTH CAROLINA CHAPEL HILL · PI VORA, NEETA L · 2021 to 2025
$3.4MA powerful web-based discovery platform for rare disease geneticsR01HG009141 · NHGRI · BROAD INSTITUTE, INC. · PI QUINLAN, AARON R, REHM, HEIDI L · 2017 to 2020
$2.9MEarly Genomic DiagnosisK23HD088742 · NICHD · UNIV OF NORTH CAROLINA CHAPEL HILL · PI VORA, NEETA L · 2017 to 2020
$685kNHGRI NIH HHS R01 HG009141NHGRI NIH HHS UM1 HG008900NICHD NIH HHS K23 HD088742NICHD NIH HHS P50 HD103524NICHD NIH HHS R01 HD105868NIMH NIH HHS R01 MH101221
Abstract
purposeGenome-wide sequencing is increasingly being performed during pregnancy to identify the genetic cause of congenital anomalies. The interpretation of prenatally identified variants can be challenging and is hampered by our often limited knowledge of prenatal phenotypes. To better delineate the prenatal phenotype of Coffin-Siris syndrome (CSS), we collected clinical data from patients with a prenatal phenotype and a pathogenic variant in one of the CSS-associated genes.
methodsClinical data was collected through an extensive web-based survey.
resultsWe included 44 patients with a variant in a CSS-associated gene and a prenatal phenotype; 9 of these patients have been reported before. Prenatal anomalies that were frequently observed in our cohort include hydrocephalus, agenesis of the corpus callosum, hypoplastic left heart syndrome, persistent left vena cava, diaphragmatic hernia, renal agenesis, and intrauterine growth restriction. Anal anomalies were frequently identified after birth in patients with ARID1A variants (6/14, 43%). Interestingly, pathogenic ARID1A variants were much more frequently identified in the current prenatal cohort (16/44, 36%) than in postnatal CSS cohorts (5%-9%).
conclusionOur data shed new light on the prenatal phenotype of patients with pathogenic variants in CSS genes.
Indexed as
Hand Deformities, CongenitalIntellectual DisabilityMicrognathismAbnormalities, MultipleChromosomal Proteins, Non-HistoneFaceGenetic Association StudiesHumansNeckPhenotypeChromosomal Proteins, Non-HistoneARID1AARID1B BAFopathyBAF-complexFetalSMARCA4SMARCB1
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