Cited by 301Telomeres, Telomerase, and SenescenceBlood disorders and treatmentsAcute Myeloid Leukemia Research

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Mutations of the human telomerase RNA gene (TERC) in aplastic anemia and myelodysplastic syndrome

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Yamaguchi, Hiroki, Baerlocher, Gabriela M., Lansdorp, Peter M., Chanock, Stephen J., Nunez, Olga, Sloand, Elaine, Young, Neal S.·2003·Blood

DOI 10.1182/blood-2003-01-0335

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Abstract

Mutations in the human telomerase RNA (TERC) occur in autosomal dominant dyskeratosis congenita (DKC). Because of the possibility that TERC mutations might underlie seemingly acquired forms of bone marrow failure, we examined blood samples from a large number of patients with aplastic anemia (AA), paroxysmal nocturnal hemoglobinuria (PNH), and myelodysplasia (MDS). Only 3 of 210 cases showed heterozygous TERC mutations: both nucleotide 305 (n305) (G>A) and n322 (G>A) were within the conserved region (CR) 4–CR5 domain; n450 (G>A) was localized to the boxH/ACA domain. However, only one patient (with a mutation at n305 [G>A]) had clinical characteristics suggesting DKC; her blood cells contained short telomeres and her sister also suffered from bone marrow failure. Another 21 patients with short telomeres did not show TERC mutations. Our results suggest that cryptic DKC, at least secondary to mutations in the TERC gene, is an improbable diagnosis in patients with otherwise typical AA, PNH, and MDS.

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Authors: Yamaguchi, H., Baerlocher, G. M., Lansdorp, P. M., Chanock, S. J., Nunez, O., Sloand, E., & Young, N. S.
Affiliations: National Institutes of Health (US)
From the Hematology Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD; Terry Fox Laboratory, BC Cancer Research Center, Vancouver; Department of Medicine, University of British Columbia, Vancouver, Canada; and the Section on Genomic Variation, Pediatric Oncology Branch, National Cancer Institutes, Advanced Technology Center, Gaithersburg, MD
ORCID: Yamaguchi, Hiroki
Baerlocher, Gabriela M.
Lansdorp, Peter M.
Chanock, Stephen J.
Young, Neal S.
Venue: Blood
Publisher: American Society of Hematology
Published: 2003-08-01
Volume: 102
Issue: 3
Pages: 916-918
ISSN: 0006-4971 (ISSN-L)
1528-0020
DOI: 10.1182/blood-2003-01-0335
OpenAlex: W2085418826
Cited by: 301
References: 27
Citations by year: 2026: 2 · 2025: 3 · 2024: 7 · 2023: 11 · 2022: 5 · 2021: 4 · 2020: 13 · 2019: 9 · 2018: 16 · 2017: 19 · 2016: 12 · 2015: 14 · 2014: 19 · 2013: 13 · 2012: 14
FWCI: 9.27
Type: journal article
Language: en
Open access: bronze
doi.org
Locations: Blood (publishedVersion)
PubMed (publishedVersion)
Topics: Life Sciences › Biochemistry, Genetics and Molecular Biology › Cell Biology › Telomeres, Telomerase, and Senescence
Health Sciences › Medicine › Hematology › Blood disorders and treatments
Health Sciences › Medicine › Hematology › Acute Myeloid Leukemia Research
Keywords: telomerase RNA, TERC mutations, aplastic anemia, myelodysplastic syndrome, paroxysmal nocturnal hemoglobinuria, dyskeratosis congenita, bone marrow failure, short telomeres, heterozygous mutation
MeSH terms: Anemia, Aplastic, Hemoglobinuria, Paroxysmal, Heterozygote, Humans, Mutation, Myelodysplastic Syndromes, RNA, Case-Control Studies, Telomerase, Dyskeratosis Congenita, Polymorphism, Single Nucleotide

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Mutations of the human telomerase RNA gene (TERC) in aplastic anemia and myelodysplastic syndrome

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