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

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.