Impact of germline CTC1 alterations on telomere length in acquired bone marrow failure.
Br J Haematol
; 185(5): 935-939, 2019 06.
Article
em En
| MEDLINE
| ID: mdl-30891747
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.
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Texto completo:
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Base de dados:
MEDLINE
Assunto principal:
Telômero
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Mutação em Linhagem Germinativa
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Proteínas de Ligação a Telômeros
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Transtornos da Insuficiência da Medula Óssea
Limite:
Adult
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Aged
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Aged80
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Female
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Humans
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Male
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Middle aged
Idioma:
En
Revista:
Br J Haematol
Ano de publicação:
2019
Tipo de documento:
Article
País de afiliação:
Estados Unidos