ArticleClinical genetics2012
Three novel truncating TINF2 mutations causing severe dyskeratosis congenita in early childhood.
Article in Clinical genetics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 54 papers.
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Who cites it
54 citing papers in PubMed, 90 citations in OpenAlex.
- Clonal Signatures of Telomere Biology Disorders.Current hematologic malignancy reports · 2026Review
- C-Terminal Extended Domain-Independent Telomere Maintenance: Modeling the Function of TIN2 Isoforms inInternational journal of molecular sciences · 2025Article
- Hematological complications in solid organ transplant recipients with telomere biology disorders: a narrative review.Frontiers in immunology · 2025Review
- TIN2 modulates FOXO1 mitochondrial shuttling to enhance oxidative stress-induced apoptosis in retinal pigment epithelium under hyperglycemia.Cell death and differentiation · 2024Article
- Telomeres: Dysfunction, Maintenance, Aging and Cancer.Aging and disease · 2023Review
- Article
- A de novo TINF2, R282C Mutation in a Case of Dyskeratosis Congenital Founded by Next-Generation Sequencing.Iranian biomedical journal · 2023Article
- Truncating TINF2 p.Tyr312Ter variant and inherited breast cancer susceptibility.Familial cancer · 2023Article
- NovelWorld journal of clinical cases · 2022Article
- Telomere-mediated lung disease.Physiological reviews · 2022Review
- Editing TINF2 as a potential therapeutic approach to restore telomere length in dyskeratosis congenita.Blood · 2022Article
- TIN2 deficiency leads to ALT-associated phenotypes and differentiation defects in embryonic stem cells.Stem cell reports · 2022Article
- Article
- Revesz syndrome with bilateral retinal detachments successfully treated by pars plana vitrectomy.American journal of ophthalmology case reports · 2021Article
- Shaping human telomeres: from shelterin and CST complexes to telomeric chromatin organization.Nature reviews. Molecular cell biology · 2021Review
- Revesz syndrome revisited.Orphanet journal of rare diseases · 2020Review
- Nonsense Suppression Therapy: New Hypothesis for the Treatment of Inherited Bone Marrow Failure Syndromes.International journal of molecular sciences · 2020Review
- Review
- A Truncating Germline Mutation ofThyroid : official journal of the American Thyroid Association · 2020Article
- An update on the biology and management of dyskeratosis congenita and related telomere biology disorders.Expert review of hematology · 2019Review
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4 authors at 1 institution in 1 country.
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Abstract
Dyskeratosis congenita (DC) is a telomere biology disorder characterized by a mucocutaneous triad, aplastic anemia, and predisposition to cancer. Mutations in a narrow segment of TINF2 exon 6 have been recognized to cause often-severe DC that is either sporadic or autosomal dominant. We describe three children with very early presentations of DC, including one with the severe variant known as Revesz syndrome. Although most TINF2 mutations reported to date are missense changes, each of our patients carried a novel heterozygous nonsense or frameshift mutation, revealing a new 5' boundary to the affected gene segment in patients with DC. Examination of patient-derived lymphoblastoid cell lines revealed stable expression of the predicted truncated TIN2 proteins. In co-immunoprecipitation assays, the ability of a truncation mutant to interact with TRF1 was severely impaired, whereas the ability of the most common DC-associated mutant was much less affected. This suggests that the disruption of TIN2-TRF1 interaction may contribute to the severe clinical phenotype observed in the context of the TIN2 truncation mutation, but is unlikely to be the primary cause of telomere shortening associated with the more prevalent TIN2 missense mutations. Telomere flow-fluorescent in situ hybridization (FISH) analysis of one pedigree showed the dramatic effect a de novo nonsense TINF2 mutation had on telomere length in early development. These cases underscore the severe manifestations of truncating TINF2 mutations.
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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.