ArticlePLoS genetics2013
A recessive founder mutation in regulator of telomere elongation helicase 1, RTEL1, underlies severe immunodeficiency and features of Hoyeraal Hreidarsson syndrome.
Article in PLoS genetics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 79 papers, 1 of them a synthesis that pooled it.
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Who cites it
79 citing papers in PubMed, 1 synthesis or guideline pooled it, 137 citations in OpenAlex.
- The role of the RTEL1 rs2297440 polymorphism in the risk of glioma development: a meta-analysis.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2016Pooled it
- A Reduced-Intensity Conditioning Regimen for Patients with Dyskeratosis Congenita Undergoing Hematopoietic Stem Cell Transplantation.Biology of blood and marrow transplantation : journal of the American Society for Blood and Marrow Transplantation · 2016Trial
- Clinical Evaluation of Long-Read Sequencing for Telomere Length Assessment in Human Blood and Lung Tissues.Cells · 2026Article
- Subclinical Telomere Biology Disorder in Cancer Patients Heterozygous for the RTEL1 R1264H Founder Variant.American journal of medical genetics. Part A · 2026Article
- Clonal Signatures of Telomere Biology Disorders.Current hematologic malignancy reports · 2026Review
- Rare genetic diseases associated with G-quadruplex-induced replication stress.Communications biology · 2026Review
- Age-associated G-quadruplex accumulation and DDX5 loss shape chromatin landscapes in human astrocytes.Research square · 2025Article
- Immune cells display an abnormal maturation and a proinflammatory profile in telomere biology disorders.Blood advances · 2025Article
- Clinical and molecular features of immunodeficiency in patients with telomere biology disorders.Blood · 2025Article
- Separation of telomere protection from length regulation by two different point mutations at amino acid 492 of RTEL1.Nucleic acids research · 2025Article
- TERT c.3150 G > C (p.K1050N): a founder Ashkenazi Jewish variant associated with telomere biology disorders.NPJ genomic medicine · 2025Article
- Rapid dynamics allow the low-abundance RTEL1 helicase to promote telomere replication.Nucleic acids research · 2025Article
- Structural and biochemical characterization of the C-terminal region of the human RTEL1 helicase.Protein science : a publication of the Protein Society · 2024Article
- A comprehensive in silico investigation into the pathogenic SNPs in the RTEL1 gene and their biological consequences.PloS one · 2024Article
- Article
- Telomeres: Dysfunction, Maintenance, Aging and Cancer.Aging and disease · 2023Review
- Telomouse-a mouse model with human-length telomeres generated by a single amino acid change in RTEL1.Nature communications · 2023Article
- p53 in the Molecular Circuitry of Bone Marrow Failure Syndromes.International journal of molecular sciences · 2023Review
- Lung transplant recipients with telomere-mediated pulmonary fibrosis have increased risk for hematologic complications.American journal of transplantation : official journal of the American Society of Transplantation and the American Society of Transplant Surgeons · 2023Article
- ERCC6L2 mitigates replication stress and promotes centromere stability.Cell reports · 2023Article
19 more citing papers are in PubMed but not listed here.
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Authors and funding
24 authors at 8 institutions in 2 countries.
Funding
Abstract
Dyskeratosis congenita (DC) is a heterogeneous inherited bone marrow failure and cancer predisposition syndrome in which germline mutations in telomere biology genes account for approximately one-half of known families. Hoyeraal Hreidarsson syndrome (HH) is a clinically severe variant of DC in which patients also have cerebellar hypoplasia and may present with severe immunodeficiency and enteropathy. We discovered a germline autosomal recessive mutation in RTEL1, a helicase with critical telomeric functions, in two unrelated families of Ashkenazi Jewish (AJ) ancestry. The affected individuals in these families are homozygous for the same mutation, R1264H, which affects three isoforms of RTEL1. Each parent was a heterozygous carrier of one mutant allele. Patient-derived cell lines revealed evidence of telomere dysfunction, including significantly decreased telomere length, telomere length heterogeneity, and the presence of extra-chromosomal circular telomeric DNA. In addition, RTEL1 mutant cells exhibited enhanced sensitivity to the interstrand cross-linking agent mitomycin C. The molecular data and the patterns of inheritance are consistent with a hypomorphic mutation in RTEL1 as the underlying basis of the clinical and cellular phenotypes. This study further implicates RTEL1 in the etiology of DC/HH and immunodeficiency, and identifies the first known homozygous autosomal recessive disease-associated mutation in RTEL1.
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