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Impact of germline CTC 1 alterations on telomere length in acquired bone marrow failure
Author(s) -
Shen Wenyi,
Kerr Cassandra M.,
Przychozen Bartlomiej,
Mahfouz Reda Z.,
LaFramboise Thomas,
Nagata Yasunobu,
Hanna Rabi,
Radivoyevitch Tomas,
Nazha Aziz,
Sekeres Mikkael A.,
Maciejewski Jaroslaw P.
Publication year - 2019
Publication title -
british journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.907
H-Index - 186
eISSN - 1365-2141
pISSN - 0007-1048
DOI - 10.1111/bjh.15862
Subject(s) - dyskeratosis congenita , bone marrow failure , germline , compound heterozygosity , telomere , bone marrow , germline mutation , cancer research , biology , mutation , genetics , immunology , medicine , haematopoiesis , gene , stem cell
Summary Compound heterozygous germline mutations in CTC 1 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 CTC 1 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 CTC 1 variants may represent predisposition factors for acquired bone marrow failure.
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