ArticleEuropean journal of human genetics : EJHG2016
Loss-of-function variants in HIVEP2 are a cause of intellectual disability.
Article in European journal of human genetics : EJHG, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 33 papers.
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Who cites it
33 citing papers in PubMed, 49 citations in OpenAlex.
- Article
- Multiparity exacerbates Aβ accumulation and promotes cellular senescence in a mouse model of amyloidosis.Immunity & ageing : I & A · 2026Article
- 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
- 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
- Epigenetic mechanisms governing cell type specific somatic expansion and toxicity in Huntington's disease.bioRxiv : the preprint server for biology · 2025Article
- Mapping the hippocampal spatial proteomic signature in male and female mice of an early Alzheimer's disease model.Biology of sex differences · 2025Article
- Coexisting Congenital Mesoblastic Nephroma and Lissencephaly: Unique Case Report with Pathological Analysis and Its Clinical Significance.Biomedicines · 2025Article
- RBM4-mediated intron excision of Hsf1 induces BDNF for cerebellar foliation.Communications biology · 2024Article
- Adult-Onset Parkinsonism as Late Manifestation of HIVEP2-Associated Developmental Disorder.Movement disorders clinical practice · 2024Article
- Vertebrate-conserved Schnurri zinc fingers restrain Drosophila vein patterning.microPublication biology · 2024Article
- MAPK Is a Mutual Pathway Targeted by Anxiety-Related miRNAs, and E2F5 Is a Putative Target for Anxiolytic miRNAs.Biomolecules · 2023Article
- Parental gonadossomatic mosaicism inFrontiers in genetics · 2023Article
- Expanding the Phenotypic Spectrum ofMolecular syndromology · 2022Article
- Comprehensive genome sequencing analyses identify novel gene mutations and copy number variations associated with infant developmental delay or intellectual disability (DD/ID).Genes & diseases · 2022Article
- Deregulation of ceRNA Networks in Frontal Cortex and Choroid Plexus of Brain during SARS-CoV-2 Infection Aggravates Neurological Manifestations: An Insight from Bulk and Single-Cell Transcriptomic Analyses.Advanced biology · 2022Article
- Neurodevelopmental profile of HIVEP2-related disorder.Developmental medicine and child neurology · 2022Article
- Comprehensive genetic analysis confers high diagnostic yield in 16 Japanese patients with corpus callosum anomalies.Journal of human genetics · 2021Article
- Functional CRISPR dissection of gene networks controlling human regulatory T cell identity.Nature immunology · 2020Article
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Authors and funding
17 authors at 8 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Intellectual disability (ID) affects 2-3% of the population. In the past, many genetic causes of ID remained unidentified due to its vast heterogeneity. Recently, whole exome sequencing (WES) studies have shown that de novo variants underlie a significant portion of sporadic cases of ID. Applying WES to patients with ID or global developmental delay at different centers, we identified three individuals with distinct de novo variants in HIVEP2 (human immunodeficiency virus type I enhancer binding protein), which belongs to a family of zinc-finger-containing transcriptional proteins involved in growth and development. Two of the variants were nonsense changes, and one was a 1 bp deletion resulting in a premature stop codon that was reported previously without clinical detail. In silico prediction programs suggest loss-of-function in the mutated allele leading to haploinsufficiency as a putative mechanism in all three individuals. All three patients presented with moderate-to-severe ID, minimal structural brain anomalies, hypotonia, and mild dysmorphic features. Growth parameters were in the normal range except for borderline microcephaly at birth in one patient. Two of the patients exhibited behavioral anomalies including hyperactivity and aggression. Published functional data suggest a neurodevelopmental role for HIVEP2, and several of the genes regulated by HIVEP2 are implicated in brain development, for example, SSTR-2, c-Myc, and genes of the NF-κB pathway. In addition, HIVEP2-knockout mice exhibit several working memory deficits, increased anxiety, and hyperactivity. On the basis of the genotype-phenotype correlation and existing functional data, we propose HIVEP2 as a causative ID gene.
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