Mutations in telomerase catalytic protein in Japanese children with aplastic anemia

Juan Liang; Hiroshi Yagasaki; Yoshiro Kamachi; Asahito Hama; Kimikazu Matsumoto; Kouji Kato; Kazuko Kudo; Seiji Kojima

Mutations in telomerase catalytic protein in Japanese children with aplastic anemia

Juan Liang, Hiroshi Yagasaki, Yoshiro Kamachi, Asahito Hama, Kimikazu Matsumoto, Kouji Kato, Kazuko Kudo, Seiji Kojima

Research output: Contribution to journal › Article › peer-review

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.

Original language	English
Pages (from-to)	656-658
Number of pages	3
Journal	Haematologica
Volume	91
Issue number	5
Publication status	Published - May 2006
Externally published	Yes

All Science Journal Classification (ASJC) codes

Hematology

Cite this

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title = "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.",

author = "Juan Liang and Hiroshi Yagasaki and Yoshiro Kamachi and Asahito Hama and Kimikazu Matsumoto and Kouji Kato and Kazuko Kudo and Seiji Kojima",

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T1 - Mutations in telomerase catalytic protein in Japanese children with aplastic anemia

AU - Liang, Juan

AU - Yagasaki, Hiroshi

AU - Kamachi, Yoshiro

AU - Hama, Asahito

AU - Matsumoto, Kimikazu

AU - Kato, Kouji

AU - Kudo, Kazuko

AU - Kojima, Seiji

PY - 2006/5

Y1 - 2006/5

N2 - 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.

AB - 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.

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Mutations in telomerase catalytic protein in Japanese children with aplastic anemia

Abstract

All Science Journal Classification (ASJC) codes

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