ArticleAmerican journal of human genetics2017
De Novo Mutations in EBF3 Cause a Neurodevelopmental Syndrome.
Article in American journal of human genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 51 papers.
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Who cites it
51 citing papers in PubMed, 75 citations in OpenAlex.
- Tumor suppressor-like mutations mark a dosage-constrained dependency in leukemia.bioRxiv : the preprint server for biology · 2026Article
- Intrinsic and non-cell-autonomous roles for the neurodevelopmental syndrome-linked transcription factor UNC-3/EBF.Nature communications · 2026Article
- SARS-CoV-2 infects olfactory neurons and basal stem cells and induces axonal degeneration through TRPV1 activation.iScience · 2026Article
- Continuous negative autoregulation fine-tunes dosage-sensitive transcription factor expression to maintain post-mitotic neuron identity.bioRxiv : the preprint server for biology · 2026Article
- Interlocked transcription factor feedback loops maintain and restore adult touch sensation.Cell reports · 2026Article
- Intrinsic and non-cell autonomous roles for a neurodevelopmental syndrome-linked transcription factor.bioRxiv : the preprint server for biology · 2025Article
- Cell type-specific functions of the PBAF chromatin-remodeling complex in neuronal diversification.Nature communications · 2025Article
- Generation and characterization of a knockout mouse of an enhancer of EBF3.Biology open · 2025Article
- Disrupted development of sensory systems and the cerebellum in a zebrafish ebf3a mutant.G3 (Bethesda, Md.) · 2025Article
- Strabismus in Genetic Syndromes: A Review.Clinical & experimental ophthalmology · 2025Review
- Article
- Molecular and Cellular Mechanisms of Motor Circuit Development.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2024Review
- A cell type-aware framework for nominating non-coding variants in Mendelian regulatory disorders.Nature communications · 2024Article
- Boolean Modeling of Biological Network Applied to Protein-Protein Interaction Network of Autism Patients.Biology · 2024Article
- Article
- Neuronal identity control at the resolution of a single transcription factor isoform.bioRxiv : the preprint server for biology · 2024Article
- Maintenance of neuronal identity in C. elegans and beyond: Lessons from transcription and chromatin factors.Seminars in cell & developmental biology · 2024Review
- Detailed Analysis of ITPR1 Missense Variants Guides Diagnostics and Therapeutic Design.Movement disorders : official journal of the Movement Disorder Society · 2024Article
- A cell type-aware framework for nominating non-coding variants in Mendelian regulatory disorders.medRxiv : the preprint server for health sciences · 2023Article
- Integrative analysis of transcriptome dynamics during human craniofacial development identifies candidate disease genes.Nature communications · 2023Article
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Authors and funding
23 authors at 14 institutions in 4 countries.
Funding
Abstract
Early B cell factor 3 (EBF3) is an atypical transcription factor that is thought to influence the laminar formation of the cerebral cortex. Here, we report that de novo mutations in EBF3 cause a complex neurodevelopmental syndrome. The mutations were identified in two large-scale sequencing projects: the UK Deciphering Developmental Disorders (DDD) study and the Canadian Clinical Assessment of the Utility of Sequencing and Evaluation as a Service (CAUSES) study. The core phenotype includes moderate to severe intellectual disability, and many individuals exhibit cerebellar ataxia, subtle facial dysmorphism, strabismus, and vesicoureteric reflux, suggesting that EBF3 has a widespread developmental role. Pathogenic de novo variants identified in EBF3 include multiple loss-of-function and missense mutations. Structural modeling suggested that the missense mutations affect DNA binding. Functional analysis of mutant proteins with missense substitutions revealed reduced transcriptional activities and abilities to form heterodimers with wild-type EBF3. We conclude that EBF3, a transcription factor previously unknown to be associated with human disease, is important for brain and other organ development and warrants further investigation.
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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 OpenQuestion graph.