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Impact of germline CTC1 alterations on telomere length in acquired bone marrow failure.

ABSTRACT: 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.

SUBMITTER: Shen W

PROVIDER: S-EPMC6536344 | biostudies-literature | 2019 Jun

REPOSITORIES: biostudies-literature

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Impact of germline CTC1 alterations on telomere length in acquired bone marrow failure.

Shen Wenyi W Kerr Cassandra M CM Przychozen Bartlomiej B Mahfouz Reda Z RZ LaFramboise Thomas T Nagata Yasunobu Y Hanna Rabi R Radivoyevitch Tomas T Nazha Aziz A Sekeres Mikkael A MA Maciejewski Jaroslaw P JP

British journal of haematology 20190319 5

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 myelodysp ...[more]

PMID: 30891747

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