ArticleAmerican journal of human genetics2015
TAF1 Variants Are Associated with Dysmorphic Features, Intellectual Disability, and Neurological Manifestations.
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Article in American journal of human genetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 72 papers.
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72 citing papers in PubMed, 125 citations in OpenAlex.
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- From chromatin to proteostasis: multilevel gene regulation in Mendelian diseases.Frontiers in epigenetics and epigenomics · 2026Review
- Infantile Epileptic Spasm Syndrome Caused byHuman mutation · 2026Article
- TAF1 is required for fetal but not adult hematopoiesis in mice.Developmental cell · 2025Article
- Therapeutic targeting of alternative splicing caused by a lethal noncoding structural variant in X-linked dystonia parkinsonism.medRxiv : the preprint server for health sciences · 2025Article
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- Novel fetal phenotype of TAF8 deficiency.European journal of human genetics : EJHG · 2025Article
- Assessing the utility of large language models for phenotype-driven gene prioritization in the diagnosis of rare genetic disease.American journal of human genetics · 2024Article
- The roles of TAF1 in neuroscience and beyond.Royal Society open science · 2024Review
- Taf1 knockout is lethal in embryonic male mice and heterozygous females show weight and movement disorders.Disease models & mechanisms · 2024Article
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- Skewed X-chromosome inactivation in unsolved neurodevelopmental disease cases can guide re-evaluation For X-linked genes.European journal of human genetics : EJHG · 2023Article
- Deletion of taf1 and taf5 in zebrafish capitulate cardiac and craniofacial abnormalities associated with TAFopathies through perturbations in metabolism.Biology open · 2023Article
- Co-translational binding of importins to nascent proteins.Nature communications · 2023Article
- Sex and Brain: The Role of Sex Chromosomes and Hormones in Brain Development and Parkinson's Disease.Cells · 2023Review
12 more citing papers are in PubMed but not listed here.
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Authors and funding
48 authors at 20 institutions in 9 countries.
Jason A O'RaweStanley Institute for Cognitive Genomics, Cold Spring Harbor Laboratory, Cold Spring Harbor, NY 11724, USA; Graduate Program in Genetics, Stony Brook University, Stony Brook, NY 11794, USA.
Yiyang WuStanley Institute for Cognitive Genomics, Cold Spring Harbor Laboratory, Cold Spring Harbor, NY 11724, USA; Graduate Program in Genetics, Stony Brook University, Stony Brook, NY 11794, USA.
Max J DörfelStanley Institute for Cognitive Genomics, Cold Spring Harbor Laboratory, Cold Spring Harbor, NY 11724, USA.
Alan F RopeDepartment of Medical Genetics, Northwest Kaiser Permanente, Portland, OR 97227, USA.
P Y Billie AuDepartment of Medical Genetics and Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, AB T3B 6A8, Canada.
Jillian S ParboosinghDepartment of Medical Genetics and Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, AB T3B 6A8, Canada.
Sungjin MoonCenter for Human Disease Modeling, Duke University, Durham, NC 27708, USA.
Maria KousiCenter for Human Disease Modeling, Duke University, Durham, NC 27708, USA.
Konstantina KosmaDepartment of Medical Genetics, Medical School, University of Athens, Athens 11527, Greece; Research Institute for the Study of Genetic and Malignant Disorders in Childhood, Aghia Sophia, Children's Hospital, Athens 11527, Greece.
Christopher S SmithDepartment of Medical Genetics and Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, AB T3B 6A8, Canada.
Maria TzetisDepartment of Medical Genetics, Medical School, University of Athens, Athens 11527, Greece; Research Institute for the Study of Genetic and Malignant Disorders in Childhood, Aghia Sophia, Children's Hospital, Athens 11527, Greece.
Jane L SchuetteDepartment of Pediatrics, Division of Genetics, University of Michigan, Ann Arbor, MI 48109, USA; Department of Human Genetics, University of Michigan, Ann Arbor, MI 48109, USA.
Robert B HufnagelDivision of Human Genetics, Cincinnati Children's Hospital, Cincinnati, OH 45229, USA; Unit on Pediatric, Developmental, and Genetic Ophthalmology, Ophthalmic Genetics and Visual Function Branch, National Eye Institute, NIH, Bethesda, MD 20892, USA.
Carlos E PradaDivision of Human Genetics, Cincinnati Children's Hospital, Cincinnati, OH 45229, USA; Centro de Medicina Genómica y Metabolismo, Fundación Cardiovascular de Colombia, Bucaramanga, Santander 681004, Colombia.
Francisco MartinezUnidad de Genetica, Hospital Universitario y Politecnico La Fe, Valencia 46026, Spain.
Carmen OrellanaUnidad de Genetica, Hospital Universitario y Politecnico La Fe, Valencia 46026, Spain.
Jonathan CrainStanley Institute for Cognitive Genomics, Cold Spring Harbor Laboratory, Cold Spring Harbor, NY 11724, USA.
Alfonso Caro-LlopisUnidad de Genetica, Hospital Universitario y Politecnico La Fe, Valencia 46026, Spain.
Silvestre OltraUnidad de Genetica, Hospital Universitario y Politecnico La Fe, Valencia 46026, Spain.
Sandra MonfortUnidad de Genetica, Hospital Universitario y Politecnico La Fe, Valencia 46026, Spain.
Laura T Jiménez-BarrónStanley Institute for Cognitive Genomics, Cold Spring Harbor Laboratory, Cold Spring Harbor, NY 11724, USA; Centro de Ciencias Genomicas, Universidad Nacional Autonoma de México, Cuernavaca, Morelos 62210, Mexico.
Jeffrey SwensenCaris Life Sciences, Phoenix, AZ 85040, USA.
Sara EllingwoodDivision of Genetics, Pediatric Specialty Care, Maine Medical Partners, ME 04102, USA.
Rosemarie SmithDepartment of Pediatrics, Division of Genetics, Barbara Bush Children's Hospital, Maine Medical Center, Portland, ME 04102, USA.
Han FangStanley Institute for Cognitive Genomics, Cold Spring Harbor Laboratory, Cold Spring Harbor, NY 11724, USA.
Sandra OspinaFundacion Cardioinfantil and Universidad del Rosario, Bogota 681004, Colombia.
Sander StegmannDeptartment of Clinical Genetics, 6202 AZ Maastricht, the Netherlands.
Nicolette Den HollanderDepartment of Clinical Genetics, Leiden University Medical Center, 2300 RC Leiden, the Netherlands.
David MittelmanGene by Gene Ltd., Houston, TX 77008, USA.
Gareth HighnamGene by Gene Ltd., Houston, TX 77008, USA.
Reid RobisonUtah Foundation for Biomedical Research, Salt Lake City, UT 84107, USA; Tute Genomics, 150 South 100 West Street, Provo, UT 84601, USA.
Edward YangDepartment of Radiology, Boston Children's Hospital, Boston, MA 02115, USA.
Laurence FaivreGénétique des Anomalies du Développement EA4271, Université Bourgogne Franche-Comté, 21000 Dijon, France; Centre de Génétique, Centre de Référence Maladies Rares "Anomalies du Développement et Syndromes Malformatifs," Centre Hospitalier Universitaire de Dijon, 21000 Dijon, France.
Agathe RoubertieInstitut des Neurosciences de Montpellier, Université de Montpellier, BP 74103, 34950 Montpellier Cedex 5, France; Service de Neuropédiatrie, Centre Hospitalier Universitaire Gui de Chauliac, 34000 Montpellier, France.
Jean-Baptiste RivièreGénétique des Anomalies du Développement EA4271, Université Bourgogne Franche-Comté, 21000 Dijon, France.
Kristin G MonaghanGeneDx, Gaithersburg, MD 20877, USA.
Kai WangZilkha Neurogenetic Institute, Department of Psychiatry and Preventive Medicine, University of Southern California, Los Angeles, CA 90089, USA.
Erica E DavisCenter for Human Disease Modeling, Duke University, Durham, NC 27708, USA.
Nicholas KatsanisCenter for Human Disease Modeling, Duke University, Durham, NC 27708, USA.
Vera M KalscheuerResearch Group Development and Disease, Max Planck Institute for Molecular Genetics, 14195 Berlin, Germany.
Edith H WangDepartment of Pharmacology, University of Washington, Seattle, WA 98195, USA.
Kay MetcalfeClinical Genetics Service, Manchester Centre for Genomic Medicine, Saint Mary's Hospital, Central Manchester University Hospitals NHS Foundation Trust, Oxford Road, Manchester M13 9WL, UK.
Tjitske KleefstraDepartment of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands.
A Micheil InnesDepartment of Medical Genetics and Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, AB T3B 6A8, Canada.
Sophia Kitsiou-TzeliDepartment of Medical Genetics, Medical School, University of Athens, Athens 11527, Greece.
Monica RoselloUnidad de Genetica, Hospital Universitario y Politecnico La Fe, Valencia 46026, Spain.
Catherine E KeeganDepartment of Pediatrics, Division of Genetics, University of Michigan, Ann Arbor, MI 48109, USA; Department of Human Genetics, University of Michigan, Ann Arbor, MI 48109, USA.
Gholson J LyonStanley Institute for Cognitive Genomics, Cold Spring Harbor Laboratory, Cold Spring Harbor, NY 11724, USA; Graduate Program in Genetics, Stony Brook University, Stony Brook, NY 11794, USA; Utah Foundation for Biomedical Research, Salt Lake City, UT 84107, USA. Electronic address: gholsonjlyon@gmail.com.
Cold Spring Harbor Laboratory · USHospital Universitari i Politècnic La Fe · ESDuke University · USAlberta Children's Hospital · CAChildren's Hospital Agia Sophia · GRFoundation for Biomedical Research · USUniversity of Calgary · CAUniversity of Michigan–Ann Arbor · USBarbara Bush Children’s Hospital · USBoston Children's Hospital · USCaris Life Sciences (United States) · USCentre Hospitalier Universitaire Dijon Bourgogne · FRFundación Cardiovascular de Colombia · COKaiser Permanente · USLeiden University Medical Center · NLMaastricht University · NLMaine Medical Center · USMax Planck Institute for Molecular Genetics · DENational and Kapodistrian University of Athens · GRNational Eye Institute · US
Funding
Integrated variation detection annotation and analysis for high-throughout sequeR01HG006465 · NHGRI · UNIVERSITY OF SOUTHERN CALIFORNIA · PI WANG, KAI · 2012 to 2016
$1.8MNHGRI NIH HHS HG006465NHGRI NIH HHS R01 HG006465
Abstract
We describe an X-linked genetic syndrome associated with mutations in TAF1 and manifesting with global developmental delay, intellectual disability (ID), characteristic facial dysmorphology, generalized hypotonia, and variable neurologic features, all in male individuals. Simultaneous studies using diverse strategies led to the identification of nine families with overlapping clinical presentations and affected by de novo or maternally inherited single-nucleotide changes. Two additional families harboring large duplications involving TAF1 were also found to share phenotypic overlap with the probands harboring single-nucleotide changes, but they also demonstrated a severe neurodegeneration phenotype. Functional analysis with RNA-seq for one of the families suggested that the phenotype is associated with downregulation of a set of genes notably enriched with genes regulated by E-box proteins. In addition, knockdown and mutant studies of this gene in zebrafish have shown a quantifiable, albeit small, effect on a neuronal phenotype. Our results suggest that mutations in TAF1 play a critical role in the development of this X-linked ID syndrome.
Indexed as
AdolescentAnimalsChildChild, PreschoolDevelopmental DisabilitiesDisease Models, AnimalE-Box ElementsFaciesFamilyGene Expression RegulationHistone AcetyltransferasesHumansInfantInheritance PatternsIntellectual DisabilityMaleHistone AcetyltransferasesTATA-binding protein associated factor 250 kDaTATA-Binding Protein Associated FactorsTranscription Factor TFIIDabnormal gaitdevelopmental delaydystoniafacial dysmorphologyintellectual disabilityintergluteal creaseneurologic featuresTAF1transcription
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