ArticlemedRxiv : the preprint server for health sciences2025
Androgens mediate sexual dimorphism in Pilarowski-Bjornsson Syndrome.
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69 authors.
Kimberley Jade AndersonDepartment of Genetics and Molecular Medicine, Landspitali University Hospital, Reykjavik, Iceland.ORCID 0000-0003-0629-6343
Eirny Tholl ThorolfsdottirDepartment of Genetics and Molecular Medicine, Landspitali University Hospital, Reykjavik, Iceland.
Ilana M NodelmanT.C. Jenkins Department of Biophysics, Johns Hopkins University, Baltimore, MD, USA.
Sara Tholl HalldorsdottirThe Louma G. Laboratory of Epigenetic Research, Faculty of Medicine, University of Iceland, Reykjavik, Iceland.
Stefania BenonisdottirInstitute of Physical Sciences, University of Iceland, Reykjavik, Iceland.
Malak AlghamdiMedical Genetics Division, Pediatric Department, College of Medicine, King Saud University Medical City, King Saud University, Riyadh, Saudi Arabia.
Naif AlmontashiriCollege of Applied Medical Sciences and Center for Genetics and Inherited Diseases, Taibah University, Madinah, Kingdom of Saudi Arabia.
Brenda J BarryF.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA, USA.
Matthias BegemannInstitute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, Germany.
Jacquelyn F BrittonMcKusick-Nathans Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
Sarah BurkeMunroe-Meyer Institute for Genetics and Rehabilitation, University of Nebraska Medical Center, Omaha, Nebraska, USA.
Benjamin CogneNantes Université, CHU de Nantes, CNRS, INSERM, l'institut du thorax, F-44000 Nantes, France.
Ana S A CohenDepartment of Pathology and Laboratory Medicine, Genomic Medicine Center, Children's Mercy-Kansas City, Kansas City, MO, USA.
Carles de Diego BoguñáServicio de Genética, Hospital Universitario de Toledo, Toledo, Spain.
Evan E EichlerHoward Hughes Medical Institute, University of Washington, Seattle, WA, USA.
Elizabeth C EngleF.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA, USA.
Jill A FahrnerMcKusick-Nathans Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
Laurence FaivreINSERM UMR1231, GAD team, Univeristé de Bourgogne Europe, Dijon, France.
Mélanie FradinService de Genetique Medicale, Centre Labellisé Anomalies du Développement de l'Ouest, CHU Rennes, Rennes, France.
Nico FuhrmannInstitute of Human Genetics, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.
Christine W GaoMcKusick-Nathans Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA.ORCID 0000-0003-2298-2239
Gunjan GargDepartment of Clinical Genetics, Liverpool Hospital, Sydney, New South Wales, Australia.
Dagmar GrečmalováInstitute of Molecular and Clinical Pathology and Medical Genetics, University Hospital Ostrava, Czech Republic.
Mina GrippaSSD Medical Genetics, Maternal and Child Department, AOU Policlinico Modena, Modena, Italy.
Jacqueline R HarrisMcKusick-Nathans Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
Kendra HoekzemaDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.
Tova HershkovitzThe Genetics Institute, Galilee Mefical Center, Nahriya, Israel.
Sydney HubbardMunroe-Meyer Institute for Genetics and Rehabilitation, University of Nebraska Medical Center, Omaha, Nebraska, USA.
Katrien JanssensCenter of Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium.
Julie A JurgensF.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA, USA.
Stanislav KmochResearch Unit for Rare Diseases, Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University, Prague, Czech Republic.
Cordula KnoppInstitute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, Germany.
Meral Aktas KoptagelInstitute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, Germany.
Farah A LadhaBaylor College of Medicine, Department of Molecular and Human Genetics, Houston, TX, USA.
Pablo LapunzinaINGEMM-Institute of Medical and Molecular Genetics, IdiPAZ- CIBERER- Hospital Universitario La Paz, Madrid, Spain and ERNITHACA, Madrid, Spain.
Tobias LindauDepartment of Pediatrics, Gemeinschaftsklinikum Mittelrhein Kemperhof, Koblenzer Straße 115-155, 56073 Koblenz, Germany.
Marije MeuwissenCenter of Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium.
Andreina MinicucciIRCCS Azienda Ospedaliero-Universitaria di Bologna, U.O. Genetica Medica, 40138 Bologna, Italy.
Emily NeuhausDepartment of Psychiatry and Behavioral Sciences, University of Washington, Seattle, Washington, USA.
Mathilde NizonService de Génétique Médicale, Unité de Génétique Clinique, Nantes, France.
Lenka NoskováResearch Unit for Rare Diseases, Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University, Prague, Czech Republic.
Kristen ParkDepartments of Pediatrics and Neurology, University of Colorado School of Medicine and Children's Hospital Colorado, Aurora, CO, USA.ORCID 0000-0001-5527-3047
Chirag PatelGenetic Health Queensland, Royal Brisbane & Women's Hospital Campus, Herston, Brisbane, Australia.
Rolph PfundtDepartment of Human Genetics, Donders Institute, Radboud University Medical Center, Nijmegen, The Netherlands.
Pankaj PrasunDivision of Genetics, Department of Pediatrics West Virginia School of Medicine, Morgantown, USA.
Nils RahnerMVZ Institute for Clinical Genetics and Tumor Genetics, Bonn, Germany.
Nathaniel H RobinDepartment of Genetics, UAB Heersink School of Medicine, Birmingham AL, USA.
Carey RonspiesDepartment of Pediatrics, University of Nebraska Medical Center, Omaha, NE, USA.
Jasmin RoohiDepartment of Genetics, Mid-Atlantic Permanente Medical Group, Washington, DC, USA.
Jill RosenfeldBaylor Genetics, Houston, TX, USA.
Margarita SaenzDepartments of Pediatrics and Neurology, University of Colorado School of Medicine and Children's Hospital Colorado, Aurora, CO, USA.
Carol SaundersDepartment of Pathology and Laboratory Medicine, Genomic Medicine Center, Children's Mercy-Kansas City, Kansas City, MO, USA.
Zornitza StarkVictorian Clinical Genetics Services, Murdoch Children's Research Institute, Flemington Road, Parkville, Victoria, Australia.
Isabelle ThiffaultDepartment of Pathology and Laboratory Medicine, Genomic Medicine Center, Children's Mercy-Kansas City, Kansas City, MO, USA.
Sarah ThullInstitute of Human Genetics, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.
Danita VelascoDepartment of Pediatrics, University of Nebraska Medical Center, Omaha, NE, USA.
Clara VelmansInstitute of Human Genetics, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.
Jolijn VerseputHuman Genetics Department, Radboud University Medical Center, Nijmegen, the Netherlands.
Antonio VitobelloINSERM UMR1231, GAD team, Univeristé de Bourgogne Europe, Dijon, France.ORCID 0000-0003-3717-8374
Tianyun WangDepartment of Medical Genetics, Center for Medical Genetics, School of Basic Medical Sciences, Peking University, Beijing 100191, China.ORCID 0000-0002-5179-087X
Karin WeissThe Genetics Institute Rambam Health Care Campus Haifa Israel.
Ingrid M WentzensenGeneDx, LLC, Gaithersburg MD 20877 USA.
Genay PilarowskiChan Zuckerberg Biohub, San Francisco, CA, USA.
Thor EysteinssonDepartment of Physiology, Faculty of Medicine, University of Iceland.
Madelyn GillentineIndependent Scientist.
Kári StefánssondeCODE Genetics/Amgen Inc., Reykjavik, Iceland.
Agnar HelgasondeCODE Genetics/Amgen Inc., Reykjavik, Iceland.
Gregory D BowmanT.C. Jenkins Department of Biophysics, Johns Hopkins University, Baltimore, MD, USA.ORCID 0000-0001-8025-4315
Hans Tomas BjornssonDepartment of Genetics and Molecular Medicine, Landspitali University Hospital, Reykjavik, Iceland.ORCID 0000-0001-6635-6753
Funding
Structural and Functional Characterization of the Chd1 Chromatin RemodelerR01GM084192 · NIGMS · JOHNS HOPKINS UNIVERSITY · PI BOWMAN, GREGORY DEAN · 2008 to 2024
$6.3MNIGMS NIH HHS R01 GM084192Wellcome Trust
Abstract
Sex-specific penetrance in autosomal dominant Mendelian conditions is largely understudied. The neurodevelopmental disorder Pilarowski-Bjornsson syndrome (PILBOS) was initially described in females. Here, we describe the clinical and genetic characteristics of the largest PILBOS cohort to date, showing that both sexes can exhibit PILBOS features, although males are overrepresented. A mouse model carrying a human-derived
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CHD1Mendelian diseaseNeurodevelopmental disorderSex differences
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LicenceCC BY-ND
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.