Cited by 414Telomeres, Telomerase, and SenescenceBlood disorders and treatmentsNuclear Structure and Function

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TINF2, a Component of the Shelterin Telomere Protection Complex, Is Mutated in Dyskeratosis Congenita

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Savage, Sharon A., Giri, Neelam, Baerlocher, Gabriela M., Orr, Nick, Lansdorp, Peter M., Alter, Blanche P.·2008·The American Journal of Human Genetics

DOI 10.1016/j.ajhg.2007.10.004PMC PMC2427222

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Abstract

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.

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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: Savage, Sharon A.
Giri, Neelam
Baerlocher, Gabriela M.
Orr, Nick
Lansdorp, Peter M.
Alter, Blanche P.
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)
DOI: 10.1016/j.ajhg.2007.10.004
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: www.elsevier.com/tdm/userlicense/1.0/ (tdm)
www.elsevier.com/open-access/userlicense/1.0/ (vor, 1995 d)
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

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TINF2, a Component of the Shelterin Telomere Protection Complex, Is Mutated in Dyskeratosis Congenita

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