ArticleNeurogenetics2016
Mutations in HIVEP2 are associated with developmental delay, intellectual disability, and dysmorphic features.
Article in Neurogenetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 papers.
What it found
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Who cites it
31 citing papers in PubMed, 51 citations in OpenAlex.
- Dynamic changes in the corpus callosum in a case of HIVEP2-related disorder: a case report and literature review.BMC pediatrics · 2026Review
- Dendritic compartment-specific spine formation in layer 5 neurons underlies cortical circuit maturation during adolescence.Science advances · 2026Article
- Genetic crossroads of cardiovascular disease and its comorbidities: toward holistic therapeutic strategies.BMC medical genomics · 2025Article
- Remote spatial memory deficits in mouse models of neuropsychiatric disorders with immature dentate gyrus phenotype.The international journal of neuropsychopharmacology · 2025Article
- Comprehensive insight on immune landscape in intracerebral hemorrhage patients with single-cell RNA sequencing: from blood to hematoma.Journal of neuroinflammation · 2025Article
- Early transcriptional responses reveal cell type-specific vulnerability and neuroprotective mechanisms in the neonatal ischemic hippocampus.Acta neuropathologica communications · 2025Article
- Article
- Genome-wide analysis of Smad and Schnurri transcription factors inbioRxiv : the preprint server for biology · 2025Article
- Coexisting Congenital Mesoblastic Nephroma and Lissencephaly: Unique Case Report with Pathological Analysis and Its Clinical Significance.Biomedicines · 2025Article
- Adult-Onset Parkinsonism as Late Manifestation of HIVEP2-Associated Developmental Disorder.Movement disorders clinical practice · 2024Article
- Microcephaly GeneInternational journal of molecular sciences · 2024Article
- Parental gonadossomatic mosaicism inFrontiers in genetics · 2023Article
- Expanding the Phenotypic Spectrum ofMolecular syndromology · 2022Article
- The Intricate Epigenetic and Transcriptional Alterations in Pediatric High-Grade Gliomas: Targeting the Crosstalk as the Oncogenic Achilles' Heel.Biomedicines · 2022Review
- Neurodevelopmental profile of HIVEP2-related disorder.Developmental medicine and child neurology · 2022Article
- Regional identity of human neural stem cells determines oncogenic responses to histone H3.3 mutants.Cell stem cell · 2021Article
- Article
- Genetic Etiologies in Developmental and/or Epileptic Encephalopathy With Electrical Status Epilepticus During Sleep: Cohort Study.Frontiers in genetics · 2021Article
- Functional CRISPR dissection of gene networks controlling human regulatory T cell identity.Nature immunology · 2020Article
- CircHivep2 contributes to microglia activation and inflammation via miR-181a-5p/SOCS2 signalling in mice with kainic acid-induced epileptic seizures.Journal of cellular and molecular medicine · 2020Article
Corrections and comments
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Authors and funding
16 authors at 8 institutions in 2 countries.
Funding
Abstract
Human immunodeficiency virus type I enhancer binding protein 2 (HIVEP2) has been previously associated with intellectual disability and developmental delay in three patients. Here, we describe six patients with developmental delay, intellectual disability, and dysmorphic features with de novo likely gene-damaging variants in HIVEP2 identified by whole-exome sequencing (WES). HIVEP2 encodes a large transcription factor that regulates various neurodevelopmental pathways. Our findings provide further evidence that pathogenic variants in HIVEP2 lead to intellectual disabilities and developmental delay.
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Registered trials
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.