ArticleAmerican journal of human genetics2014
NR2F1 mutations cause optic atrophy with intellectual disability.
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Article in American journal of human genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 73 papers.
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73 citing papers in PubMed, 141 citations in OpenAlex.
- Genomic analysis identifies candidate pathogenic variants in 9 of 18 patients with unexplained West syndrome.Human genetics · 2015Trial
- An NR2F1-dependent retinoic acid network controls retinal specialization in mice and reveals foveal hypoplasia in patients with BBSOAS.bioRxiv : the preprint server for biology · 2026Article
- Second Prenatal Diagnosis of Bosch-Boonstra-Schaaf Optic Atrophy Syndrome in a Fetus With a 5q14.3q15 Deletion: A Case Report and Review of the Literature.Clinical case reports · 2026Article
- Cranial neural crest shortage leads to extensive craniofacial anomalies in mice mutant for the NR2F1/2 nuclear receptors.Developmental biology · 2026Article
- The NR2F1-Related 5q14.3-q21.1 deletion causing periventricular heterotopia with cerebral visual impairment: a longitudinal case report and genotype-phenotype analysis.Frontiers in genetics · 2026Article
- Language and Cognitive Features in a Girl with Bosch-Boonstra-Schaaf Optic Atrophy Syndrome.Pediatric reports · 2025Article
- Transgene-Induced Chromosomal Rearrangement With Aberrant Human Vascular Endothelial Growth Factor at the Optic Fissure Leads to Uveal Coloboma in Mice.Investigative ophthalmology & visual science · 2025Observational
- Models of Bosch-Boonstra-Schaaf optic atrophy syndrome reveal genotype-phenotype correlations in brain structure and behavior.Disease models & mechanisms · 2025Article
- The Natural Course of Bosch-Boonstra-Schaaf Optic Atrophy Syndrome.Clinical genetics · 2025Article
- Tracking single-cell evolution using clock-like chromatin accessibility loci.Nature biotechnology · 2025Article
- Single-nucleus profiling decoding the subcortical visual pathway evolution of vertebrates.iScience · 2025Article
- Unravelling the conundrum of nucleolar NR2F1 localization using antibody-based approaches in vitro and in vivo.Communications biology · 2025Article
- A pathogenic NR2F1 gene variant disrupts transcriptional activity and causes severe neurodevelopmental delay in Bosch-Boonstra-Schaaf syndrome.Hereditas · 2025Article
- Case Report: AFrontiers in medicine · 2025Article
- Article
- Roles of the NR2F Family in the Development, Disease, and Cancer of the Lung.Journal of developmental biology · 2024Review
- Disrupted protein interaction dynamics in a genetic neurodevelopmental disorder revealed by structural bioinformatics and genetic code expansion.Protein science : a publication of the Protein Society · 2024Article
- NAT10-mediated acCell proliferation · 2024Article
- Transcriptional regulation in the development and dysfunction of neocortical projection neurons.Neural regeneration research · 2024Review
- Effective treatment of NR2F1-related epilepsy with perampanel.Acta epileptologica · 2024Article
13 more citing papers are in PubMed but not listed here.
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Authors and funding
24 authors at 8 institutions in 2 countries.
Daniëlle G M BoschDepartment of Human Genetics, Radboud university medical center, 6500 HB Nijmegen, the Netherlands; Bartiméus, Institute for the Visually Impaired, 3700 BA Zeist, the Netherlands; Radboud Institute for Molecular Life Sciences, Radboud university medical center, 6500 HB Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behavior, Radboud university medical center, 6500 HB Nijmegen, the Netherlands.
F Nienke BoonstraBartiméus, Institute for the Visually Impaired, 3700 BA Zeist, the Netherlands; Donders Institute for Brain, Cognition and Behavior, Radboud university medical center, 6500 HB Nijmegen, the Netherlands.
Claudia Gonzaga-JaureguiDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Mafei XuDepartment of Molecular and Cellular Biology, Baylor College of Medicine, Houston, TX 77030, USA.
Joep de LigtDepartment of Human Genetics, Radboud university medical center, 6500 HB Nijmegen, the Netherlands; Radboud Institute for Molecular Life Sciences, Radboud university medical center, 6500 HB Nijmegen, the Netherlands; Institute for Genetic and Metabolic Disease, Radboud university medical center, 6500 HB Nijmegen, the Netherlands.
Shalini JhangianiHuman Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA.
Wojciech WiszniewskiDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA.
Donna M MuznyHuman Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA.
Helger G YntemaDepartment of Human Genetics, Radboud university medical center, 6500 HB Nijmegen, the Netherlands.
Rolph PfundtDepartment of Human Genetics, Radboud university medical center, 6500 HB Nijmegen, the Netherlands.
Lisenka E L M VissersDepartment of Human Genetics, Radboud university medical center, 6500 HB Nijmegen, the Netherlands; Radboud Institute for Molecular Life Sciences, Radboud university medical center, 6500 HB Nijmegen, the Netherlands; Institute for Genetic and Metabolic Disease, Radboud university medical center, 6500 HB Nijmegen, the Netherlands.
Liesbeth SpruijtDepartment of Human Genetics, Radboud university medical center, 6500 HB Nijmegen, the Netherlands; Research Institute for Oncology, Radboud university medical center, 6500 HB Nijmegen, the Netherlands.
Ellen A W BloklandDepartment of Human Genetics, Radboud university medical center, 6500 HB Nijmegen, the Netherlands; Radboud Institute for Molecular Life Sciences, Radboud university medical center, 6500 HB Nijmegen, the Netherlands.
Chun-An ChenDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA.
Baylor-Hopkins Center for Mendelian Genomics
Richard A LewisDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA; Department of Ophthalmology, Baylor College of Medicine, Houston, TX 77030, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA.
Sophia Y TsaiDepartment of Molecular and Cellular Biology, Baylor College of Medicine, Houston, TX 77030, USA.
Richard A GibbsDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA.
Ming-Jer TsaiDepartment of Molecular and Cellular Biology, Baylor College of Medicine, Houston, TX 77030, USA.
James R LupskiDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA.
Huda Y ZoghbiDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA; Howard Hughes Medical Institute, 4000 Jones Bridge Road, Chevy Chase, MD 20815, USA; Department of Neuroscience, Program in Developmental Biology, Baylor College of Medicine, Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA.
Frans P M CremersDepartment of Human Genetics, Radboud university medical center, 6500 HB Nijmegen, the Netherlands; Radboud Institute for Molecular Life Sciences, Radboud university medical center, 6500 HB Nijmegen, the Netherlands.
Bert B A de VriesDepartment of Human Genetics, Radboud university medical center, 6500 HB Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behavior, Radboud university medical center, 6500 HB Nijmegen, the Netherlands; Institute for Genetic and Metabolic Disease, Radboud university medical center, 6500 HB Nijmegen, the Netherlands. Electronic address: Bert.deVries@radboudumc.nl.
Christian P SchaafDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA. Electronic address: schaaf@bcm.edu.
Baylor College of Medicine · USRadboud University Nijmegen · NLRadboud University Medical Center · NLNeurological Research Institute · USRadboud Institute for Molecular Life Sciences · NLTexas Children's Hospital · USBartiméus · NLBaylor Genetics · US
Funding
The Human Genome Sequencing CenterU54HG003273 · NHGRI · BAYLOR COLLEGE OF MEDICINE · PI GIBBS, RICHARD A · 2004 to 2015
$341.3MTISSUE COACTIVATOR AND RECEPTOR EXPRESSION FINGERPRINTSP01DK059820 · NIDDK · INSTITUT DE GENETIQUE ET BIOLOGIE MOLECU · PI DEMAYO, FRANCESCO JOHN · 2001 to 2016
$23.1MBaylor-Johns Hopkins Center for Mendelian GeneticsU54HG006542 · NHGRI · JOHNS HOPKINS UNIVERSITY · PI VALLE, DAVID · 2012 to 2015
$15.6MSteps towards a paternal gene activation therapy for Angelman syndromeU54HD083092 · NICHD · BAYLOR COLLEGE OF MEDICINE · PI NELSON, DAVID LOREN, NEUL, JEFFREY L · 2014 to 2019
$7.8MMECHANISM OF ACTION OF COUP TRANSCRIPTION FACTORSR37DK045641 · NIDDK · BAYLOR COLLEGE OF MEDICINE · PI TSAI, MING-JER · 1999 to 2008
$3.4MMECHANISMS OF ACTION OF COUP TRANSCRIPTION FACTORSR01DK045641 · NIDDK · BAYLOR COLLEGE OF MEDICINE · PI TSAI, MING-JER · 1992 to 2014
$2.2MNuclear Orphan Receptor, COUP-TFII, in Energy Metabolism and DiseaseR01HL114539 · NHLBI · BAYLOR COLLEGE OF MEDICINE · PI TSAI, SOPHIA Y. · 2013 to 2016
$1.5MGenome analysis to elucidate molecular mechanisms for peripheral neuropathiesK23NS078056 · NINDS · OREGON HEALTH & SCIENCE UNIVERSITY · PI WISZNIEWSKI, WOJCIECH KRZYSZTOF · 2012 to 2016
$783kNHGRI NIH HHS U54 HG003273NHGRI NIH HHS U54 HG006542NHGRI NIH HHS U54HG006542NHLBI NIH HHS HL114539NHLBI NIH HHS R01 HL114539NICHD NIH HHS U54 HD083092NIDDK NIH HHS DK45641NIDDK NIH HHS P01 DK059820NIDDK NIH HHS R01 DK045641NIDDK NIH HHS R37 DK045641NINDS NIH HHS K23 NS078056NINDS NIH HHS K23NS078056
Abstract
Optic nerve atrophy and hypoplasia can be primary disorders or can result from trans-synaptic degeneration arising from cerebral visual impairment (CVI). Here we report six individuals with CVI and/or optic nerve abnormalities, born after an uneventful pregnancy and delivery, who have either de novo heterozygous missense mutations in NR2F1, also known as COUP-TFI, or deletions encompassing NR2F1. All affected individuals show mild to moderate intellectual impairment. NR2F1 encodes a nuclear receptor protein that regulates transcription. A reporter assay showed that missense mutations in the zinc-finger DNA-binding domain and the putative ligand-binding domain decrease NR2F1 transcriptional activity. These findings indicate that NR2F1 plays an important role in the neurodevelopment of the visual system and that its disruption can lead to optic atrophy with intellectual disability.
Indexed as
AdolescentAdultAmino Acid SequenceChildChild, PreschoolCOUP Transcription Factor IDNA-Binding ProteinsFemaleGenotypeHumansIntellectual DisabilityMaleMolecular Sequence DataMutation, MissenseOptic AtrophyPhenotypeCOUP Transcription Factor IDNA-Binding ProteinsNR2F1 protein, human
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