ArticleHuman mutation2015
POLD1 Germline Mutations in Patients Initially Diagnosed with Werner Syndrome.
Article in Human mutation, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 39 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
39 citing papers in PubMed, 61 citations in OpenAlex.
- Genotype-phenotype heterogeneity among patients with lipodystrophy harboring rare POLD1 variants.The Journal of clinical endocrinology and metabolism · 2026Article
- Insulin-Resistant Diabetes Associated With a Novel POLD1 Variant of Uncertain Significance in a Pediatric Patient.Cureus · 2026Article
- Article
- Anesthetic management of a patient with mandibular hypoplasia, deafness, progeroid features, lipodystrophy syndrome: a case report.JA clinical reports · 2024Article
- Caspase 5 depletion is linked to hyper-inflammatory response and progeroid syndrome.GeroScience · 2024Article
- Downregulation of Krüppel-like factor 14 accelerated cellular senescence and aging.Aging cell · 2023Article
- Non-canonical binding of the Chaetomium thermophilum PolD4 N-terminal PIP motif to PCNA involves Q-pocket and compact 2-fork plug interactions but no 3The FEBS journal · 2023Article
- A likely pathogenic POLD1 variant associated with mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome in a Chinese patient.BMC medical genomics · 2022Article
- Scrutinizing Deleterious Nonsynonymous SNPs and Their Effect on Human POLD1 Gene.Genetics research · 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
- Article
- Article
- Review of How Genetic Research on Segmental Progeroid Syndromes Has Documented Genomic Instability as a Hallmark of Aging But Let Us Now Pursue Antigeroid Syndromes!The journals of gerontology. Series A, Biological sciences and medical sciences · 2021Review
- Congenital Diseases of DNA Replication: Clinical Phenotypes and Molecular Mechanisms.International journal of molecular sciences · 2021Review
- Mutations Involved in Premature-Ageing Syndromes.The application of clinical genetics · 2021Review
- Novel Genetic Causes of Gastrointestinal Polyposis Syndromes.The application of clinical genetics · 2021Review
- Loss of MTX2 causes mandibuloacral dysplasia and links mitochondrial dysfunction to altered nuclear morphology.Nature communications · 2020Article
- The identification of six risk genes for ovarian cancer platinum response based on global network algorithm and verification analysis.Journal of cellular and molecular medicine · 2020Article
- Two novel cases further expand the phenotype of TOR1AIP1-associated nuclear envelopathies.Human genetics · 2020Article
- Opportunities for new studies of nuclear DNA replication enzymology in budding yeast.Current genetics · 2020Review
Corrections and comments
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Authors and funding
18 authors at 10 institutions in 5 countries.
Funding
Abstract
Segmental progeroid syndromes are rare, heterogeneous disorders characterized by signs of premature aging affecting more than one tissue or organ. A prototypic example is the Werner syndrome (WS), caused by biallelic germline mutations in the Werner helicase gene (WRN). While heterozygous lamin A/C (LMNA) mutations are found in a few nonclassical cases of WS, another 10%-15% of patients initially diagnosed with WS do not have mutations in WRN or LMNA. Germline POLD1 mutations were recently reported in five patients with another segmental progeroid disorder: mandibular hypoplasia, deafness, progeroid features syndrome. Here, we describe eight additional patients with heterozygous POLD1 mutations, thereby substantially expanding the characterization of this new example of segmental progeroid disorders. First, we identified POLD1 mutations in patients initially diagnosed with WS. Second, we describe POLD1 mutation carriers without clinically relevant hearing impairment or mandibular underdevelopment, both previously thought to represent obligate diagnostic features. These patients also exhibit a lower incidence of metabolic abnormalities and joint contractures. Third, we document postnatal short stature and premature greying/loss of hair in POLD1 mutation carriers. We conclude that POLD1 germline mutations can result in a variably expressed and probably underdiagnosed segmental progeroid syndrome.
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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.