Mutations in telomerase catalytic protein in Japanese children with aplastic anemia.

Abstract:

:Recent studies indicate that a subset of patients with apparently acquired aplastic anemia (AA) have mutations in genes for telomerase ribonucleoprotein complex components. We looked for mutations in telomerase RNA (TERC) and telomerase reverse transcriptase (TERT) in 96 Japanese children with acquired AA and in 76 healthy controls. No mutations in TERC were found in any subjects. Novel heterozygous, non-synonymous mutations in TERT (T726M and G682D) were found in two patients with AA, neither of whom had clinical characteristics suggesting constitutional AA. This genetic difference does not explain the higher incidence of AA in Asian populations.

journal_name

Haematologica

journal_title

Haematologica

authors

Liang J,Yagasaki H,Kamachi Y,Hama A,Matsumoto K,Kato K,Kudo K,Kojima S

subject

Has Abstract

pub_date

2006-05-01 00:00:00

pages

656-8

issue

5

eissn

0390-6078

issn

1592-8721

pii

03906078_9413

journal_volume

91

pub_type

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