Table 5.

Novel TERC mutations

MutationLocationFamilyPresentation
79delC Pseudoknot domain DCR207 FAA
52-55delCTAA Template region DCR209 S-MDS/DC
48A>G Template region DCR230 S-DC
  • FAA indicates familial aplastic anemia; S, sporadic case; MDS, myelodysplastic syndrome.