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.
authors.affiliation: Department of Pediatrics, Nagoya University Graduate School of Medicine, Nagoya, Japan.
authors.forename: Juan
authors.initials: J
authors.lastname: Liang
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Yagasaki
authors.forename: Yoshiro
authors.initials: Y
authors.lastname: Kamachi
authors.forename: Asahito
authors.initials: A
authors.lastname: Hama
authors.forename: Kimikazu
authors.initials: K
authors.lastname: Matsumoto
authors.forename: Kouji
authors.initials: K
authors.lastname: Kato
authors.forename: Kazuko
authors.initials: K
authors.lastname: Kudo
authors.forename: Seiji
authors.initials: S
authors.lastname: Kojima
mesh_terms: D000293:Adolescent; D019943:Amino Acid Substitution; D000741:Anemia, Aplastic / Q000188:drug therapy / Q000209:etiology / Q000235:genetics*; D020134:Catalytic Domain; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D004268:DNA-Binding Proteins / Q000235:genetics*; D004351:Drug Resistance; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D006505:Hepatitis / Q000150:complications; D006801:Humans; D007166:Immunosuppressive Agents / Q000627:therapeutic use; D007223:Infant; D007231:Infant, Newborn; D007564:Japan / Q000453:epidemiology; D008297:Male; D020125:Mutation, Missense; D010641:Phenotype; D017354:Point Mutation; D012313:RNA / Q000235:genetics; D019098:Telomerase / Q000235:genetics*; D016615:Telomere / Q000648:ultrastructure; D014777:Virus Diseases / Q000150:complications
chemical_list: D004268:DNA-Binding Proteins; D007166:Immunosuppressive Agents; C422952:telomerase RNA; D012313:RNA; C509186:TERT protein, human; D019098:Telomerase