ArticleAmerican journal of human genetics2019
ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder.
Erratum issuedOpen access · bronzeAbstract read
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Article in American journal of human genetics, 2019. 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 31 papers.
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31citing papers in PubMed
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Who cites it
31 citing papers in PubMed, 66 citations in OpenAlex.
- Loss of Zmiz1 in Mice Leads to Impaired Cortical Development and Autistic-Like Behaviors.Biological psychiatry · 2026Article
- The ZMIZ1-GTF2I interaction as a potential contributor to the neurodevelopmental phenotype in neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies (NEDDFSA).Pediatric research · 2026Article
- Regulation of Neuronal Senescence byBiology · 2026Article
- Zmiz1-Mediated SUMOylation of NLRP3 Inflammasome Regulates Satellite Glial Cell Activation and Neuronal Autophagy in Trigeminal Neuralgia.Inflammation · 2025Article
- Transcriptional coregulator ZMIZ1 modulates estrogen responses that are essential for healthy endometrial function.The Journal of clinical investigation · 2025Article
- Association Between Primary Dysmenorrhea and Mental Health Traits: A Study Based on Multi-Phenotype Correlation Network and Mendelian Randomization Analysis in Female College Students.Phenomics (Cham, Switzerland) · 2025Article
- Mate-pair sequencing assisted prenatal counseling for a rare complex chromosomal rearrangement carrier.Human molecular genetics · 2025Article
- Blockade of ZMIZ1-GATA4 Axis Regulation Restores Youthfulness to Aged Cartilage.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2025Article
- Association of genetic variants, protein domains, and phenotypes in the ZMIZ1 syndromic neurodevelopmental disorder.Frontiers in neuroscience · 2025Article
- EndothelialFrontiers in cell and developmental biology · 2025Article
- Characterization of Freshly Isolated Human Peripheral Blood B Cells, Monocytes, CD4+ and CD8+ T Cells, and Skin Mast Cells by Quantitative Transcriptomics.International journal of molecular sciences · 2024Article
- SMPD4-mediated sphingolipid metabolism regulates brain and primary cilia development.Development (Cambridge, England) · 2024Article
- Endothelial Zmiz1 modulates physiological and pathophysiological angiogenesis during retinal development.bioRxiv : the preprint server for biology · 2024Article
- Genetic and phenotypic analysis of 225 Chinese children with developmental delay and/or intellectual disability using whole-exome sequencing.BMC genomics · 2024Article
- Clinical report and genetic analysis of a novel variant in ZMIZ1 causing neurodevelopmental disorder with dysmorphic factors and distal skeletal anomalies in a Chinese family.Genes & genomics · 2024Review
- Zmiz1 is a novel regulator of brain development associated with autism and intellectual disability.Frontiers in psychiatry · 2024Article
- Zmiz1 is a novel regulator of lymphatic endothelial cell gene expression and function.PloS one · 2024Article
- The challenges in the interpretation of genetic variants detected by genomics techniques in patients with congenital anomalies.Journal of clinical laboratory analysis · 2023Article
- Zmiz1 is a novel regulator of lymphatic endothelial cell gene expression and function.bioRxiv : the preprint server for biology · 2023Article
- Targeted Sequencing Approach and Its Clinical Applications for the Molecular Diagnosis of Human Diseases.Cells · 2023Review
Corrections and comments
- Erratum issued
Authors and funding
61 authors at 20 institutions in 5 countries.
Raphael CarapitoLaboratoire d'ImmunoRhumatologie Moléculaire, plateforme GENOMAX, INSERM UMR_S 1109, Faculté de Médecine, Fédération Hospitalo-Universitaire OMICARE, Fédération de Médecine Translationnelle de Strasbourg (FMTS), LabEx TRANSPLANTEX, Université de Strasbourg, 4 rue Kirschleger, 67085 Strasbourg, France; Service d'Immunologie Biologique, Plateau Technique de Biologie, Pôle de Biologie, Nouvel Hôpital Civil, 1 place de l'Hôpital, 67091 Strasbourg, France. Electronic address: carapito@unistra.fr.
Ekaterina L IvanovaInstitut de Génétique et de Biologie Moléculaire et Cellulaire, CNRS UMR 7104, INSERM U1258, Université de Strasbourg, 1 rue Laurent Fries, 67404 Illkirch, France.
Aurore MorlonBIOMICA SAS, 4 rue Boussingault, 67000 Strasbourg, France.
Linyan MengDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Baylor Genetics, Houston, TX 77021, USA.
Anne MolitorLaboratoire d'ImmunoRhumatologie Moléculaire, plateforme GENOMAX, INSERM UMR_S 1109, Faculté de Médecine, Fédération Hospitalo-Universitaire OMICARE, Fédération de Médecine Translationnelle de Strasbourg (FMTS), LabEx TRANSPLANTEX, Université de Strasbourg, 4 rue Kirschleger, 67085 Strasbourg, France.
Eva ErdmannInstitut de Génétique et de Biologie Moléculaire et Cellulaire, CNRS UMR 7104, INSERM U1258, Université de Strasbourg, 1 rue Laurent Fries, 67404 Illkirch, France.
Bruno KiefferInstitut de Génétique et de Biologie Moléculaire et Cellulaire, CNRS UMR 7104, INSERM U1258, Université de Strasbourg, 1 rue Laurent Fries, 67404 Illkirch, France.
Angélique PichotLaboratoire d'ImmunoRhumatologie Moléculaire, plateforme GENOMAX, INSERM UMR_S 1109, Faculté de Médecine, Fédération Hospitalo-Universitaire OMICARE, Fédération de Médecine Translationnelle de Strasbourg (FMTS), LabEx TRANSPLANTEX, Université de Strasbourg, 4 rue Kirschleger, 67085 Strasbourg, France.
Lydie NaegelyLaboratoire d'ImmunoRhumatologie Moléculaire, plateforme GENOMAX, INSERM UMR_S 1109, Faculté de Médecine, Fédération Hospitalo-Universitaire OMICARE, Fédération de Médecine Translationnelle de Strasbourg (FMTS), LabEx TRANSPLANTEX, Université de Strasbourg, 4 rue Kirschleger, 67085 Strasbourg, France.
Aline KolmerLaboratoire d'ImmunoRhumatologie Moléculaire, plateforme GENOMAX, INSERM UMR_S 1109, Faculté de Médecine, Fédération Hospitalo-Universitaire OMICARE, Fédération de Médecine Translationnelle de Strasbourg (FMTS), LabEx TRANSPLANTEX, Université de Strasbourg, 4 rue Kirschleger, 67085 Strasbourg, France.
Nicodème PaulLaboratoire d'ImmunoRhumatologie Moléculaire, plateforme GENOMAX, INSERM UMR_S 1109, Faculté de Médecine, Fédération Hospitalo-Universitaire OMICARE, Fédération de Médecine Translationnelle de Strasbourg (FMTS), LabEx TRANSPLANTEX, Université de Strasbourg, 4 rue Kirschleger, 67085 Strasbourg, France.
Antoine HanauerLaboratoire d'ImmunoRhumatologie Moléculaire, plateforme GENOMAX, INSERM UMR_S 1109, Faculté de Médecine, Fédération Hospitalo-Universitaire OMICARE, Fédération de Médecine Translationnelle de Strasbourg (FMTS), LabEx TRANSPLANTEX, Université de Strasbourg, 4 rue Kirschleger, 67085 Strasbourg, France.
Frédéric Tran Mau-ThemFédération Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement (TRANSLAD), CHU de Dijon Bourgogne, 21079 Dijon, France; Inserm UMR1231 GAD, Génétique des Anomalies du Développement, Université de Bourgogne, 21079 Dijon, France.
Nolwenn Jean-MarçaisFédération Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement (TRANSLAD), CHU de Dijon Bourgogne, 21079 Dijon, France; Inserm UMR1231 GAD, Génétique des Anomalies du Développement, Université de Bourgogne, 21079 Dijon, France.
Susan M HiattHudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA.
Gregory M CooperHudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA.
Tatiana TvrdikARUP Laboratories, Salt Lake City, UT 84108, USA.
Alison M MuirDepartment of Pediatrics, University of Washington, Seattle, WA 98195, USA.
Clémantine DimartinoLaboratory of Embryology and Genetics of Human Malformations, INSERM UMR 1163, Imagine Institute, 75015 Paris, France; Paris Descartes-Sorbonne Paris Cité Université, Imagine Institute, 75015 Paris, France.
Maya ChopraDépartement de Génétique, Hôpital Necker-Enfants Malades, Assistance Publique Hôpitaux de Paris (AP-HP), Paris, France; Discipline of Genetic Medicine, University of Sydney, Sydney, NSW 2050, Australia.
Jeanne AmielLaboratory of Embryology and Genetics of Human Malformations, INSERM UMR 1163, Imagine Institute, 75015 Paris, France; Paris Descartes-Sorbonne Paris Cité Université, Imagine Institute, 75015 Paris, France; Département de Génétique, Hôpital Necker-Enfants Malades, Assistance Publique Hôpitaux de Paris (AP-HP), Paris, France.
Christopher T GordonLaboratory of Embryology and Genetics of Human Malformations, INSERM UMR 1163, Imagine Institute, 75015 Paris, France; Paris Descartes-Sorbonne Paris Cité Université, Imagine Institute, 75015 Paris, France.
Fabien DutreuxLaboratoire d'ImmunoRhumatologie Moléculaire, plateforme GENOMAX, INSERM UMR_S 1109, Faculté de Médecine, Fédération Hospitalo-Universitaire OMICARE, Fédération de Médecine Translationnelle de Strasbourg (FMTS), LabEx TRANSPLANTEX, Université de Strasbourg, 4 rue Kirschleger, 67085 Strasbourg, France.
Aurore GardeFédération Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement (TRANSLAD), CHU de Dijon Bourgogne, 21079 Dijon, France; Inserm UMR1231 GAD, Génétique des Anomalies du Développement, Université de Bourgogne, 21079 Dijon, France.
Christel Thauvin-RobinetFédération Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement (TRANSLAD), CHU de Dijon Bourgogne, 21079 Dijon, France; Inserm UMR1231 GAD, Génétique des Anomalies du Développement, Université de Bourgogne, 21079 Dijon, France.
Xia WangDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Baylor Genetics, Houston, TX 77021, USA.
Magalie S LeducDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Baylor Genetics, Houston, TX 77021, USA.
Meredith PhillipsCook Children's Medical Center, Fort Worth, TX 76102, USA.
Heather P CrawfordCook Children's Medical Center, Fort Worth, TX 76102, USA.
Mary K KukolichCook Children's Medical Center, Fort Worth, TX 76102, USA.
David HuntWessex Clinical Genetics Service, Princess Anne Hospital, Southampton SO16 5YA, UK.
Victoria HarrisonWessex Clinical Genetics Service, Princess Anne Hospital, Southampton SO16 5YA, UK.
Mira KharbandaWessex Clinical Genetics Service, Princess Anne Hospital, Southampton SO16 5YA, UK.
Deciphering Developmental Disorders StudyThe Wellcome Sanger Institute, Hinxton CB10 1SA, UK.
University of Washington Center for Mendelian Genomics
Robert SmigielDepartment of Pediatrics and Rare Disorders, Wroclaw Medical University, 50-368 Wroclaw, Poland.
Nina GoldDivision of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.
Christina Y HungDivision of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.
David H ViskochilDepartment of Pediatrics, Division of Medical Genetics, University of Utah School of Medicine, Salt Lake City, UT 84108, USA.
Sarah L DuganDepartment of Pediatrics, Division of Medical Genetics, University of Utah School of Medicine, Salt Lake City, UT 84108, USA.
Pinar Bayrak-ToydemirARUP Laboratories, Salt Lake City, UT 84108, USA; Department of Pediatrics, Division of Medical Genetics, University of Utah School of Medicine, Salt Lake City, UT 84108, USA.
Géraldine Joly-HelasDepartment of Genetics, Rouen University Hospital, Normandy Centre for Genomic and Personalized Medicine, 76821 Rouen, France.
Anne-Marie GuerrotDepartment of Genetics, Rouen University Hospital, Normandy Centre for Genomic and Personalized Medicine, 76821 Rouen, France.
Caroline Schluth-BolardDepartment of Genetics, Hospices Civils de Lyon, GENDEV Team, Neurosciences Research Center of Lyon, INSERM U1028, CNRS UMR5292, UCBL1, 69677 Bron, France.
Marlène RioParis Descartes-Sorbonne Paris Cité Université, Imagine Institute, 75015 Paris, France; Département de Génétique, Hôpital Necker-Enfants Malades, Assistance Publique Hôpitaux de Paris (AP-HP), Paris, France.
Ingrid M WentzensenGeneDx Inc., Gaithersburg, MD 20877, USA.
Kirsty McWalterGeneDx Inc., Gaithersburg, MD 20877, USA.
Rhonda E SchnurGeneDx Inc., Gaithersburg, MD 20877, USA.
Andrea M LewisDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA.
Seema R LalaniDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA.
Noël Mensah-BonsuTexas Children's Hospital, Houston, TX 77030, USA.
Jocelyn CéralineInstitut de Génétique et de Biologie Moléculaire et Cellulaire, CNRS UMR 7104, INSERM U1258, Université de Strasbourg, 1 rue Laurent Fries, 67404 Illkirch, France; Service d'Onco-Hématologie, Hôpitaux Universitaires de Strasbourg, 67091 Strasbourg, France.
Zijie SunComprehensive Cancer Center and Beckman Research Institute, City of Hope, Duarte, CA 91010, USA.
Rafal PloskiDepartment of Medical Genetics, Warsaw Medical University, 02-106 Warsaw, Poland.
Carlos A BacinoDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA.
Heather C MeffordDepartment of Pediatrics, University of Washington, Seattle, WA 98195, USA.
Laurence FaivreFédération Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement (TRANSLAD), CHU de Dijon Bourgogne, 21079 Dijon, France; Inserm UMR1231 GAD, Génétique des Anomalies du Développement, Université de Bourgogne, 21079 Dijon, France.
Olaf BodamerDivision of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA; Broad Institute of MIT and Harvard University, Cambridge, MA 02142, USA.
Jamel ChellyInstitut de Génétique et de Biologie Moléculaire et Cellulaire, CNRS UMR 7104, INSERM U1258, Université de Strasbourg, 1 rue Laurent Fries, 67404 Illkirch, France; Laboratoire de Diagnostic Génétique, Hôpitaux Universitaire de Strasbourg, 67000 Strasbourg, France.
Bertrand IsidorService de Génétique Médicale, Hôpital Hôtel-Dieu, CHU de Nantes, 44093 Nantes, France.
Seiamak BahramLaboratoire d'ImmunoRhumatologie Moléculaire, plateforme GENOMAX, INSERM UMR_S 1109, Faculté de Médecine, Fédération Hospitalo-Universitaire OMICARE, Fédération de Médecine Translationnelle de Strasbourg (FMTS), LabEx TRANSPLANTEX, Université de Strasbourg, 4 rue Kirschleger, 67085 Strasbourg, France; Service d'Immunologie Biologique, Plateau Technique de Biologie, Pôle de Biologie, Nouvel Hôpital Civil, 1 place de l'Hôpital, 67091 Strasbourg, France. Electronic address: siamak@unistra.fr.
Inserm · FRBaylor College of Medicine · USCentre National de la Recherche Scientifique · FRDélégation Paris 5 · FRCook Children's Medical Center · USPrincess Anne Hospital · GBUniversity of Utah · USBoston Children's Hospital · USHudsonAlpha Institute for Biotechnology · USUniversité de Rouen Normandie · FRUniversity of Washington · USARUP Laboratories (United States) · USBroad Institute · USCentre Hospitalier Universitaire de Nantes · FRCity of Hope · USHôpital Necker-Enfants Malades · FRMedical University of Warsaw · PLTexas Children's Hospital · USUniversité Claude Bernard Lyon 1 · FRWroclaw Medical University · PL
Funding
UW Center for Mendelian GenomicsUM1HG006493 · NHGRI · UNIVERSITY OF WASHINGTON · PI BAMSHAD, MICHAEL JOSEPH, LEAL, SUZANNE M · 2016 to 2020
$15.3MSouth-seq: DNA sequencing for newborn nurseries in the SouthU01HG007301 · NHGRI · HUDSON-ALPHA INSTITUTE FOR BIOTECHNOLOGY · PI BARSH, GREGORY STEFAN, COOPER, GREGORY MICHAEL · 2017 to 2021
$11.9MIntellectual and Developmental Disabilities Research CenterU54HD083091 · NICHD · UNIVERSITY OF WASHINGTON · PI GURALNICK, MICHAEL J · 2014 to 2019
$7.9MGenomic Diagnosis in Children with Developmental DelayUM1HG007301 · NHGRI · HUDSON-ALPHA INSTITUTE FOR BIOTECHNOLOGY · PI COOPER, GREGORY MICHAEL, MYERS, RICHARD M · 2013 to 2016
$7.5MRoles of the androgen receptor and its co-regulators in prostate tumorigenesisR01CA070297 · NCI · STANFORD UNIVERSITY · PI SUN, ZIJIE · 2003 to 2025
$5.0MNHGRI Genome Sequencing Program Coordinating CenterU24HG008956 · NHGRI · RUTGERS, THE STATE UNIV OF N.J. · PI BUYSKE, STEVEN G, MATISE, TARA C. · 2016 to 2020
$4.9MA Genomic Approach to EpilepsyR01NS069605 · NINDS · UNIVERSITY OF WASHINGTON · PI MEFFORD, HEATHER C. · 2010 to 2019
$4.9MWnt responsive stem cells in the prostateR01DK104941 · NIDDK · STANFORD UNIVERSITY · PI SUN, ZIJIE · 2015 to 2024
$3.0MA new regulator for Wnt/beta-catenin signaling and prostate tumorigenesisR01CA151623 · NCI · STANFORD UNIVERSITY · PI SUN, ZIJIE · 2011 to 2015
$1.7MA New Mechanism for Castration Resistant Prostate CancerR01CA166894 · NCI · STANFORD UNIVERSITY · PI SUN, ZIJIE · 2015 to 2018
$1.2MA Genomic Approach to EpilepsyR56NS069605 · NINDS · UNIVERSITY OF WASHINGTON · PI MEFFORD, HEATHER C. · 2014 to 2014
$503kNCI NIH HHS R01 CA070297NCI NIH HHS R01 CA151623NHGRI NIH HHS U01 HG007301NHGRI NIH HHS U24 HG008956NHGRI NIH HHS UM1 HG006493NHGRI NIH HHS UM1 HG007301NICHD NIH HHS U54 HD083091NIDDK NIH HHS R01 DK104941NINDS NIH HHS R01 NS069605NINDS NIH HHS R56 NS069605Wellcome Trust
Abstract
ZMIZ1 is a coactivator of several transcription factors, including p53, the androgen receptor, and NOTCH1. Here, we report 19 subjects with intellectual disability and developmental delay carrying variants in ZMIZ1. The associated features include growth failure, feeding difficulties, microcephaly, facial dysmorphism, and various other congenital malformations. Of these 19, 14 unrelated subjects carried de novo heterozygous single-nucleotide variants (SNVs) or single-base insertions/deletions, 3 siblings harbored a heterozygous single-base insertion, and 2 subjects had a balanced translocation disrupting ZMIZ1 or involving a regulatory region of ZMIZ1. In total, we identified 13 point mutations that affect key protein regions, including a SUMO acceptor site, a central disordered alanine-rich motif, a proline-rich domain, and a transactivation domain. All identified variants were absent from all available exome and genome databases. In vitro, ZMIZ1 showed impaired coactivation of the androgen receptor. In vivo, overexpression of ZMIZ1 mutant alleles in developing mouse brains using in utero electroporation resulted in abnormal pyramidal neuron morphology, polarization, and positioning, underscoring the importance of ZMIZ1 in neural development and supporting mutations in ZMIZ1 as the cause of a rare neurodevelopmental syndrome.
Indexed as
Point MutationAllelesAnimalsChildChild, PreschoolDevelopmental DisabilitiesFemaleHumansInfantIntellectual DisabilityMaleMiceSyndromeTranscription FactorsTranscription FactorsZMIZ1 protein, humanintellectual disabilityneurodevelopmental disorderneuronal positioningtranscriptional coactivationZMIZ1
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