ArticleBMC medical genetics2015
A patient with polymerase E1 deficiency (POLE1): clinical features and overlap with DNA breakage/instability syndromes.
Article in BMC medical genetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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Who cites it
18 citing papers in PubMed, 36 citations in OpenAlex.
- Functional Characterization ofDiseases (Basel, Switzerland) · 2026Article
- Clinical characterization and analysis of the POLE gene in three Chinese patients with IMAGEI syndrome.BMC pediatrics · 2026Article
- Genetics, genomics and clinical features of adenomatous polyposis.Familial cancer · 2025Review
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- Recommendations for the classification of germline variants in the exonuclease domain of POLE and POLD1.Genome medicine · 2023Article
- Infections in DNA Repair Defects.Pathogens (Basel, Switzerland) · 2023Review
- NovelJournal of medical genetics · 2022Article
- Case report: A Chinese boy with facial dysmorphism, immunodeficiency, livedo, and short stature syndrome.Frontiers in pediatrics · 2022Article
- MCM complex members MCM3 and MCM7 are associated with a phenotypic spectrum from Meier-Gorlin syndrome to lipodystrophy and adrenal insufficiency.European journal of human genetics : EJHG · 2021Article
- Compensation for the absence of the catalytically active half of DNA polymerase ε in yeast by positively selected mutations in CDC28.Genetics · 2021Article
- Congenital Diseases of DNA Replication: Clinical Phenotypes and Molecular Mechanisms.International journal of molecular sciences · 2021Review
- Using next-generation sequencing to redefine BRCAness in triple-negative breast cancer.Cancer science · 2020Article
- POLE proofreading defects: Contributions to mutagenesis and cancer.DNA repair · 2019Review
- Clinical Application of Genome and Exome Sequencing as a Diagnostic Tool for Pediatric Patients: a Scoping Review of the Literature.Genetics in medicine : official journal of the American College of Medical Genetics · 2019Article
- DNA Polymerase Epsilon Deficiency Causes IMAGe Syndrome with Variable Immunodeficiency.American journal of human genetics · 2018Article
- Polε Instability Drives Replication Stress, Abnormal Development, and Tumorigenesis.Molecular cell · 2018Article
- Inherited GINS1 deficiency underlies growth retardation along with neutropenia and NK cell deficiency.The Journal of clinical investigation · 2017Article
Corrections and comments
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Authors and funding
15 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundChromosome instability syndromes are a group of inherited conditions associated with chromosomal instability and breakage, often leading to immunodeficiency, growth retardation and increased risk of malignancy. CASE PRESENTATION: We performed exome sequencing on a girl with a suspected chromosome instability syndrome that manifested as growth retardation, microcephaly, developmental delay, dysmorphic features, poikiloderma, immune deficiency with pancytopenia, and myelodysplasia. She was homozygous for a previously reported splice variant, c.4444 + 3A > G in the POLE1 gene, which encodes the catalytic subunit of DNA polymerase E.
conclusionThis is the second family with POLE1-deficency, with the affected individual demonstrating a more severe phenotype than previously described.
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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.