Journal
BRITISH JOURNAL OF HAEMATOLOGY
Volume 185, Issue 5, Pages 935-939Publisher
WILEY
DOI: 10.1111/bjh.15862
Keywords
CTC1; heterozygous; germline variant; telomere length; bone marrow failure
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Funding
- National Heart, Lung, and Blood institute, National Institutes of Health [R01HL118281, R01HL123904, R01HL132071, R35HL135 795]
- Edward P. Evans Foundation
- National Natural Science Foundation of China [81400079]
- Liu Da Ren Cai Gao Feng of JiangSu Province, China [2017-WSN-026]
- Youth Medical Talent of Empowering Medicine through Science and Education Programe from Jiangsu Provincial Commission of Health and Family planning, China [QNRC2016565]
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Compound heterozygous germline mutations in CTC1 gene have been found in patients with atypical dyskeratosis congenita (DC), whereas heterozygous carriers are unaffected. Through screening of a large cohort of adult patients with acquired bone marrow failure syndromes, in addition to a DC case, we have also found extremely rare or novel heterozygous deleterious germline variants of CTC1 in patients with aplastic anaemia (AA; n=5), paroxysmal nocturnal haemoglobinuria (PNH; n=3) and myelodysplastic syndrome (MDS; n=2). A compound heterozygous case of AA showed clonal evolution. Our results suggest that some of the inherited CTC1 variants may represent predisposition factors for acquired bone marrow failure.
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