ArticleAmerican journal of human genetics2018
DNA Polymerase Epsilon Deficiency Causes IMAGe Syndrome with Variable Immunodeficiency.
Article in American journal of human genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 57 papers.
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Who cites it
57 citing papers in PubMed, 106 citations in OpenAlex.
- Targeting DNA Polymerase Epsilon Induces Tumor Clearance and Activates an NF-κB-Mediated Inflammatory Response in Triple-Negative Breast Cancer.Cancer research · 2026Article
- Regulatory networks of iron sulfur cluster biology in cancer mechanisms and therapeutic perspectives.iScience · 2026Review
- Functional Characterization ofDiseases (Basel, Switzerland) · 2026Article
- Clinical characterization and analysis of the POLE gene in three Chinese patients with IMAGEI syndrome.BMC pediatrics · 2026Article
- Inborn errors of immunity with DNA repair disorders: at the interface of immune deficiency, immune dysregulation, and malignancy.Frontiers in immunology · 2026Review
- An Intronic Variant in CDKN1C Gene Causing IMAGe Syndrome in an Iranian Girl.Molecular genetics & genomic medicine · 2025Article
- Targeting DNA Polymerase Epsilon Leads to Tumor Clearance and Activation of an NF-κB-mediated inflammatory response in Triple Negative Breast Cancer.bioRxiv : the preprint server for biology · 2025Article
- Characterization of a PNLIP variant identified in Amish pediatric patients with congenital pancreatic lipase deficiency.Journal of lipid research · 2025Article
- Human genetic influences on early B cell development.Journal of human immunity · 2025Review
- Comprehensive Analysis of Human Colorectal Cancers Harboring Polymerase Epsilon Mutations.International journal of molecular sciences · 2025Article
- Type 2 Diabetes in a Patient With IMAGe Syndrome Secondary to Polymerase Epsilon Pathogenic Variants.JCEM case reports · 2025Article
- Adrenal Insufficiency Associated Cardiomyopathy, From Molecule to Clinic: A Comprehensive Review.Health science reports · 2025Article
- Genetics, genomics and clinical features of adenomatous polyposis.Familial cancer · 2025Review
- Site directed mutagenesis reveals functional importance of conserved amino acid residues within the N-terminal domain of Dpb2 in budding yeast.Archives of microbiology · 2024Article
- Current progress of anti‑PD‑1/PDL1 immunotherapy for glioblastoma (Review).Molecular medicine reports · 2024Review
- Expanding the genetic and phenotypic landscape of replication factor C complex-related disorders: RFC4 deficiency is linked to a multisystemic disorder.American journal of human genetics · 2024Article
- Variable Syndromic Immunodeficiency in Patients with Biallelic PRIM1 Mutations.Journal of clinical immunology · 2024Article
- POLE2 promotes osteosarcoma progression by enhancing the stability of CD44.Cell death discovery · 2024Article
- Antagonistic interactions safeguard mitotic propagation of genetic and epigenetic information in zebrafish.Communications biology · 2024Article
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Authors and funding
47 authors at 20 institutions in 7 countries.
Funding
Abstract
During genome replication, polymerase epsilon (Pol ε) acts as the major leading-strand DNA polymerase. Here we report the identification of biallelic mutations in POLE, encoding the Pol ε catalytic subunit POLE1, in 15 individuals from 12 families. Phenotypically, these individuals had clinical features closely resembling IMAGe syndrome (intrauterine growth restriction [IUGR], metaphyseal dysplasia, adrenal hypoplasia congenita, and genitourinary anomalies in males), a disorder previously associated with gain-of-function mutations in CDKN1C. POLE1-deficient individuals also exhibited distinctive facial features and variable immune dysfunction with evidence of lymphocyte deficiency. All subjects shared the same intronic variant (c.1686+32C>G) as part of a common haplotype, in combination with different loss-of-function variants in trans. The intronic variant alters splicing, and together the biallelic mutations lead to cellular deficiency of Pol ε and delayed S-phase progression. In summary, we establish POLE as a second gene in which mutations cause IMAGe syndrome. These findings add to a growing list of disorders due to mutations in DNA replication genes that manifest growth restriction alongside adrenal dysfunction and/or immunodeficiency, consolidating these as replisome phenotypes and highlighting a need for future studies to understand the tissue-specific development roles of the encoded proteins.
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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.