ArticleEuropean journal of human genetics : EJHG2023
CUX1-related neurodevelopmental disorder: deep insights into phenotype-genotype spectrum and underlying pathology.
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Article in European journal of human genetics : EJHG, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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16citing papers in PubMed
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16 citing papers in PubMed, 18 citations in OpenAlex.
- A transient sex-biased transcriptional program shapes early postnatal L2/3 neuron development.Biology of sex differences · 2026Article
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- Ultrarare Variants in DNA Damage Repair and Mitochondrial Genes in Pediatric Acute-Onset Neuropsychiatric Syndrome and Acute Behavioral Regression in Neurodevelopmental Disorders.Developmental neuroscience · 2026Article
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- Analyses of GWAS and Sub-Threshold Loci Lead to the Discovery of Dendrite Development and Morphology Dysfunction Underlying Schizophrenia Genetic Risk.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2025Article
- CUX1 variant and 9p deletion: expanding the spectrum and resolving variable GDD/ID in a family.BMC medical genomics · 2025Article
- Cocaine-induced gene regulation in D1 and D2 neuronal ensembles of the nucleus accumbens.Communications biology · 2025Article
- Artificial intelligence-driven genotype-epigenotype-phenotype approaches to resolve challenges in syndrome diagnostics.EBioMedicine · 2025Article
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- Molecular signatures of cortical expansion in the human foetal brain.Nature communications · 2024Article
- GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases.medRxiv : the preprint server for health sciences · 2024Article
- Consider CUX1 variants in children with a variation of sex development: a case report and review of the literature.BMC medical genomics · 2024Review
- GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases.Research square · 2024Article
- Heterozygous loss-of-function variants in DOCK4 cause neurodevelopmental delay and microcephaly.Human genetics · 2024Article
- Molecular signatures of cortical expansion in the human fetal brain.bioRxiv : the preprint server for biology · 2024Article
- Deep phenotyping and population-level data can help resolve genomic variants.European journal of human genetics : EJHG · 2023Article
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Authors and funding
55 authors at 20 institutions in 10 countries.
Henry Oppermann *Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany. Henry.oppermann@medizin.uni-leipzig.de.ORCID 0000-0001-9216-5918
Elia Marcos-Grañeda *Department of Cellular and Molecular Biology, Centro Nacional de Biotecnología, Consejo Superior de Investigaciones Científicas (CNB-CSIC), Campus de Cantoblanco, Madrid, Spain.ORCID 0000-0002-0595-6824
Linnea A WeissDepartment of Cellular and Molecular Biology, Centro Nacional de Biotecnología, Consejo Superior de Investigaciones Científicas (CNB-CSIC), Campus de Cantoblanco, Madrid, Spain.
Christina A GurnettDepartment of Neurology, Washington University in St Louis, St Louis, MO, USA.
Anne Marie JelsigDpt. of Clinical Genetics, Copenhagen University Hospital-Rigshospitalet, Copenhagen, Denmark.ORCID 0000-0002-0916-4517
Susanne H VinekeDpt. of Clinical Genetics, Copenhagen University Hospital-Rigshospitalet, Copenhagen, Denmark.
Bertrand IsidorService de Génétique Médicale, CHU de Nantes, Nantes, France.
Sandra MercierService de Génétique Médicale, CHU de Nantes, Nantes, France.
Kari MagnussenRandall Children's Hospital at Legacy Emanuel, Portland, OR, USA.
Pia ZacherEpilepsy Center Kleinwachau, Radeberg, Germany.ORCID 0000-0002-0211-5763
Mona HashimNIHR Oxford Biomedical Research Centre, Wellcome Centre for Human Genetics, University of Oxford, Oxford, UK.
Alistair T PagnamentaNIHR Oxford Biomedical Research Centre, Wellcome Centre for Human Genetics, University of Oxford, Oxford, UK.ORCID 0000-0001-7334-0602
Simone RaceBC Children's Hospital, University of British Columbia, Vancouver, BC, Canada.
Siddharth SrivastavaDepartment of Neurology, Boston Children's Hospital, Boston, MA, USA.ORCID 0000-0001-7008-1879
Zoë FrazierDepartment of Neurology, Boston Children's Hospital, Boston, MA, USA.
Robert MaiwaldMVZ for Coagulation Diagnostics and Medical Genetics Cologne, ÜBAG Zotz/Klimas, Cologne, Germany.
Matthias PergandeMVZ Düsseldorf Zentrum, ÜBAG Zotz/Klimas, Düsseldorf, Germany.ORCID 0000-0003-1100-3752
Donatella MilaniFondazione IRCCS Ca'Granda Ospedale Maggiore Policlinico, Milan, Italy.
Martina RinelliLaboratory of Medical Genetics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Jonathan LevyGenetics Department, CHU Robert-Debré, AP-HP, Paris, France.
Ilona KreyInstitute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.ORCID 0000-0002-9168-7615
Paolo FontanaMedical Genetics Unit, A.O.R.N. San Pio, Benevento, Italy.
Fortunato LonardoMedical Genetics Unit, A.O.R.N. San Pio, Benevento, Italy.
Stephanie RileyDepartment of Pediatrics, University of Maryland School of Medicine, Baltimore, MD, USA.
Jasmine KretzerDepartment of Pediatrics, University of Maryland School of Medicine, Baltimore, MD, USA.
Julia RankinDepartment of Clinical Genetics, Royal Devon University Healthcare NHS Trust, Exeter, UK.
Linda M ReisDepartment of Pediatrics and Children's Research Institute, Medical College of Wisconsin and Children's Hospital of Wisconsin, Milwaukee, WI, USA.ORCID 0000-0002-5098-6336
Elena V SeminaDepartment of Pediatrics and Children's Research Institute, Medical College of Wisconsin and Children's Hospital of Wisconsin, Milwaukee, WI, USA.ORCID 0000-0003-0531-3586
Miriam S ReuterThe Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON, Canada.ORCID 0000-0001-8662-6685
Stephen W SchererThe Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON, Canada.ORCID 0000-0002-8326-1999
Maria IasconeLaboratory of Medical Genetics, ASST Papa Giovanni XXIII, Bergamo, Italy.ORCID 0000-0002-4707-212X
Denisa WeisDepartment of Medical Genetics, Kepler University Hospital Med Campus IV, Johannes Kepler University, Linz, Austria.
Christina R FagerbergDepartment of Clinical Genetics, Odense University Hospital, Odense, Denmark.ORCID 0000-0002-5206-4327
Charlotte Brasch-AndersenDepartment of Clinical Genetics, Odense University Hospital, Odense, Denmark.
Lars Kjaersgaard HansenHC Andersen Childrens Hospital, Odense University Hospital, Odense, Denmark.
Alma KuechlerInstitut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, Essen, Germany.
Nathan NobleBlank Children's Developmental Center, Unity Point Health, Des Moines, IA, USA.
Alice GardhamNorth West Thames Regional Genetic Service, North West London Hospitals, London, UK.
Jessica TenneyDivision of Medical Genetics, University of California, San Francisco, CA, USA.ORCID 0000-0002-2459-8831
Geetanjali RathoreDvision of Pediatric Neurology, University of Nebraska Medical Center, Omaha, NE, USA.
Stefanie Beck-WoedlInstitute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.
Tobias B HaackInstitute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.
Despoina C PavlidouDivision of Genetic Medicine, Lausanne Universitary Hospital and University of Lausanne, Lausanne, Switzerland.
Isis AtallahDivision of Genetic Medicine, Lausanne Universitary Hospital and University of Lausanne, Lausanne, Switzerland.ORCID 0000-0002-0618-1549
Julia VodopiutzDepartment of Pediatrics and Adolescent Medicine, Division of Pediatric Pulmonology, Allergology and Endocrinology, Comprehensive Center for Pediatrics, Medical University of Vienna, Vienna, Austria.ORCID 0000-0002-8087-7026
Andreas R JaneckeDepartment of Pediatrics, Medical University of Innsbruck, Innsbruck, Austria.ORCID 0000-0001-7155-0315
Tzung-Chien HsiehInstitute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich-Wilhelms-Universität Bonn, Bonn, Germany.ORCID 0000-0003-3828-4419
Hellen LesmannInstitute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich-Wilhelms-Universität Bonn, Bonn, Germany.
Hannah KlinkhammerInstitute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich-Wilhelms-Universität Bonn, Bonn, Germany.ORCID 0000-0003-3752-1275
Peter M KrawitzInstitute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich-Wilhelms-Universität Bonn, Bonn, Germany.
Johannes R LemkeInstitute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.ORCID 0000-0002-4435-6610
Rami Abou JamraInstitute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.ORCID 0000-0002-1542-1399
Marta NietoDepartment of Cellular and Molecular Biology, Centro Nacional de Biotecnología, Consejo Superior de Investigaciones Científicas (CNB-CSIC), Campus de Cantoblanco, Madrid, Spain. mnlopez@cnb.csic.es.ORCID 0000-0002-8349-8435
Zeynep TümerKennedy Center, Department of Clinical Genetics, Copenhagen University Hospital-Rigshospitalet, Copenhagen, Denmark. zeynep.tumer@regionh.dk.ORCID 0000-0002-4777-5802
Konrad PlatzerInstitute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.ORCID 0000-0001-6127-6308
Leipzig University · DEUniversity of Bonn · DEConsejo Superior de Investigaciones Científicas · ESOdense University Hospital · DKBoston Children's Hospital · USCentre for Human Genetics · GBChildren's Hospital of Wisconsin · USCopenhagen University Hospital · DKUniversity of Lausanne · CHUniversity of Maryland, Baltimore · USUniversity of Toronto · CAUniversity of Tübingen · DEAgostino Gemelli University Polyclinic · ITAssistance Publique – Hôpitaux de Paris · FRBlank Children's Hospital · USCentre Hospitalier Universitaire de Nantes · FREpilepsiezentrum Kleinwachau Gemeinnützige · DEEssen University Hospital · DEFondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico · ITInnsbruck Medical University · AT
Funding
WUIDDRC Supplement-Supporting the health and well-being of children with intellectual and developmental disability during COVID-19 pandemicP50HD103525 · NICHD · WASHINGTON UNIVERSITY · PI JOSEPH D DOUGHERTY, Natasha Marrus · 2020 to 2026
$15.5MGenetic Analysis and Manipulation Core (GAEC)P50HD105351 · NICHD · BOSTON CHILDREN'S HOSPITAL · PI SCOTT Loren POMEROY, MUSTAFA SAHIN · 2021 to 2026
$9.4MMolecular Mechanisms of Axenfeld-Rieger SyndromeR01EY015518 · NEI · MEDICAL COLLEGE OF WISCONSIN · PI Elena V Semina · 2005 to 2026
$5.6MMAB21L Family in Human Ocular Disease and DevelopmentR01EY025718 · NEI · MEDICAL COLLEGE OF WISCONSIN · PI SEMINA, ELENA V · 2017 to 2020
$1.4MInvestigating the Genetic Landscape of Cerebral PalsyK23NS119666 · NINDS · BOSTON CHILDREN'S HOSPITAL · PI SRIVASTAVA, SIDDHARTH · 2021 to 2025
$1.1MNEI NIH HHS R01 EY015518NEI NIH HHS R01 EY025718NICHD NIH HHS P50 HD103525NICHD NIH HHS P50 HD105351NINDS NIH HHS K23 NS119666
Abstract
Heterozygous, pathogenic CUX1 variants are associated with global developmental delay or intellectual disability. This study delineates the clinical presentation in an extended cohort and investigates the molecular mechanism underlying the disorder in a Cux1
Indexed as
Intellectual DisabilityNeurodevelopmental DisordersAdultAnimalsHeterozygoteHomeodomain ProteinsHumansMiceNuclear ProteinsPhenotypeRepressor ProteinsSeizuresTranscription FactorsCUX1 protein, humanCux1 protein, mouseHomeodomain ProteinsNuclear ProteinsRepressor ProteinsTranscription Factors
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