The DOI matches its Crossref record; 46 of the 46 references it cites were found in a registry or an index.
TINF2, a Component of the Shelterin Telomere Protection Complex, Is Mutated in Dyskeratosis Congenita
Open accessAbstract
Patients with dyskeratosis congenita (DC), a heterogeneous inherited bone marrow failure syndrome, have abnormalities in telomere biology, including very short telomeres and germline mutations in DKC1, TERC, TERT, or NOP10, but approximately 60% of DC patients lack an identifiable mutation. With the very short telomere phenotype and a highly penetrant, rare disease model, a linkage scan was performed on a family with autosomal-dominant DC and no mutations in DKCI, TERC, or TERT. Evidence favoring linkage was found at 2p24 and 14q11.2, and this led to the identification of TINF2 (14q11.2) mutations, K280E, in the proband and her five affected relatives and TINF2 R282H in three additional unrelated DC probands, including one with Revesz syndrome; a fifth DC proband had a R282S mutation. TINF2 mutations were not present in unaffected relatives, DC probands with mutations in DKC1, TERC, or TERT or 298 control subjects. We demonstrate that a fifth gene, TINF2, is mutated in classical DC and, for the first time, in Revesz syndrome. This represents the first shelterin complex mutation linked to human disease and confirms the role of very short telomeres as a diagnostic test for DC.
Overview
Integrity signals
Registry
Cites
Statistics
Verification
Claims the paper makes
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
In the citing paper
“Shelterin mutations have been found in some cases of aplastic anemia and dyskeratosis congenita (Savage et al., 2008; Walne et al., 2008; Zhong et al., 2011).”
From The Hallmarks of Aging (2013) · cites this paper as Savage et al., 2008
In the citing paper
“Autosomal dominant forms are caused by mutations in TERT, TERC or the telomere binding protein TRF1-interacting nuclear factor 2 (156-159).”
From Telomeres and telomerase in cancer (2010) · cites this paper as [156]
In the citing paper
“Eight mutant genes have been identified in dyskeratosis congenita9,38,39,60–64, and all of them encode telomerase or telomere protein components (summarized in Table 1).”
From The telomere syndromes (2012) · cites this paper as [62]
Citations
Cites
SIFT: predicting amino acid changes that affect protein function
Ng, P. C. (2003) · Nucleic Acids Research · doi:10.1093/nar/gkg509 · Cited by 6,601
Shelterin: the protein complex that shapes and safeguards human telomeres
de Lange, T. (2005) · Genes & Development · doi:10.1101/gad.1346005 · Cited by 3,056
Parametric and nonparametric linkage analysis: a unified multipoint approach.
Kruglyak, L., Daly, M. J., Daly, M. J., & Lander, E. S. (1996) · PubMed Central · Cited by 2,883
VISTA: computational tools for comparative genomics
Frazer, K. A., Pachter, L. S., Poliakov, A., Rubin, E. M., & Dubchak, I. L. (2004) · Nucleic Acids Research · doi:10.1093/nar/gkh458 · Cited by 2,821
ESEfinder: a web resource to identify exonic splicing enhancers
Cartegni, L. (2003) · Nucleic Acids Research · doi:10.1093/nar/gkg616 · Cited by 1,593
A telomerase component is defective in the human disease dyskeratosis congenita
Mitchell, J. R., Wood, E., & Collins, K. (1999) · Nature · doi:10.1038/990141 · Cited by 1,168
Predictive Identification of Exonic Splicing Enhancers in Human Genes
Fairbrother, W. G., Yeh, R., Sharp, P. A., & Burge, C. B. (2002) · Science · doi:10.1126/science.1073774 · Cited by 1,020
Mutations in TERT, the Gene for Telomerase Reverse Transcriptase, in Aplastic Anemia
Yamaguchi, H., Calado, R. T., Ly, H., Kajigaya, S., Baerlocher, G. M., Chanock, S. J., Lansdorp, P. M., & Young, N. S. (2005) · New England Journal of Medicine · doi:10.1056/nejmoa042980 · Cited by 723
Self-citationTelomerase in the human organism
Collins, K., & Mitchell, J. R. (2002) · Oncogene · doi:10.1038/sj.onc.1205083 · Cited by 616
Connecting Chromosomes, Crisis, and Cancer
Maser, R. S., & DePinho, R. A. (2002) · Science · doi:10.1126/science.297.5581.565 · Cited by 561
Cited by
Sorted by citations
Items 401–412 of 412
Relations between aortic valve calcification and telomere lenght dynamics
Saraieva, I. (2020) · theses.fr (ABES) · doi:10.70675/c98af202z0365z444bz8ee1z337555d97246
Rakotopare, J. (2024) · theses.fr (ABES) · doi:10.70675/cc79cc10zbaf8z4e88za003z8a8d37707576
Clonal Signatures of Telomere Biology Disorders
Arcuri, L., Groarke, E. M., Savage, S. A., & Gutierrez‐Rodrigues, F. (2026) · Current Hematologic Malignancy Reports · doi:10.1007/s11899-026-00777-2
Self-citationOutcomes of Dyskeratosis Congenita: Results From the Canadian Inherited Marrow Failure Registry
Nuaimi, M. A., Català, A., Elias, E., Lim, Y. J., Zlateska, B., Klaassen, R. J., Cuvelier, G. D. E., Fernandez, C., Rayar, M. S., Steele, M., et al. (2026) · Journal of Pediatric Hematology/Oncology · doi:10.1097/mph.0000000000003222
Lui, M., Minuti, A., D’Angiolini, S., Scuruchi, M., Silvestro, S., & Artimagnella, O. (2026) · Genes · doi:10.3390/genes17060692
Xie, T., Nong, H., Jiang, J., Yang, M., Liao, J., Lin, Z., Li, Y., Xie, B., & Wei, H. (2026) · Frontiers in Genetics · doi:10.3389/fgene.2026.1833814
Shah, A., Yadav, A., George, M., Dhangar, S., Rajendran, A., Shanmukhaiah, C., Sharma, S., Idicula‐Thomas, S., & Vundinti, B. R. (2026) · European Journal of Human Genetics · doi:10.1038/s41431-026-02233-4
Targeted genomic integration and rearrangement using prime assembly
Levesque, S., Kawashima, N., Hwang, G., Zeng, J., Toskov, V., Barry, T., Mannherz, W. P., Homfeldt, L., Becerra, B., Schoonenberg, V. A. C., et al. (2026) · Nature · doi:10.1038/s41586-026-11024-2 · Cited by 3
Telomeres, Epigenetics, and Aging
Londoño‐Vallejo, A. (2009) · Springer eBooks · doi:10.1007/978-1-4419-0639-7_12 · Cited by 1
Functional Analysis of ACD Mutations in Dyskeratosis Congenita.
Koçak, H. (2014) · Deep Blue (University of Michigan)
Metadata
- Authors
- Savage, S. A., Giri, N., Baerlocher, G. M., Orr, N., Lansdorp, P. M., & Alter, B. P.
- Affiliations
- National Institutes of Health (US)
- University Hospital of Bern (CH)
- National Cancer Institute (US)
- Corresponding author
- Savage, Sharon A.
- ORCID
- Venue
- The American Journal of Human Genetics
- Publisher
- Elsevier BV
- Published
- 2008-02
- Volume
- 82
- Issue
- 2
- Pages
- 501-509
- ISSN
- 0002-9297 (ISSN-L)
- PMC
- PMC2427222
- OpenAlex
- W2033942199
- Cited by
- 414
- References
- 46
- Citations by year
- 2026: 10 · 2025: 16 · 2024: 16 · 2023: 15 · 2022: 15 · 2021: 16 · 2020: 17 · 2019: 17 · 2018: 29 · 2017: 17 · 2016: 17 · 2015: 21 · 2014: 27 · 2013: 29 · 2012: 25
- FWCI
- 28.20
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Licence
- Locations
- The American Journal of Human Genetics (publishedVersion)
- Europe PMC (PubMed Central) (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- BORIS (University Library Bern) (submittedVersion)
- Research Portal (Queen's University Belfast) (submittedVersion)
- Funders
- National Institutes of Health
- National Cancer Institute (N02 CP011019)
- National Institute of Allergy and Infectious Diseases (AI 29524, R21AI029524, R01AI029524)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Cell Biology › Telomeres, Telomerase, and Senescence
- Health Sciences › Medicine › Hematology › Blood disorders and treatments
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Nuclear Structure and Function
- Keywords
- TIN2, dyskeratosis congenita, shelterin complex, telomere protection, bone marrow failure, autosomal dominant inheritance, germline mutations, telomere biology
- MeSH terms
- Adolescent, Adult, Base Sequence, Child, Child, Preschool, Chromosome Mapping, Chromosomes, Human, Pair 14, Humans, Molecular Sequence Data, Mutation, Pedigree, Telomere, Sequence Analysis, DNA, Dyskeratosis Congenita, Telomere-Binding Proteins
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
