Summary of patients' background with TERC mutation
Case no. . | Mutation, sex/age/race . | Diagnosis . | Family history . | Chromosome abnormality . | Telomere length in leukocytes, kb . | Treatment response . |
|---|---|---|---|---|---|---|
| C1 | n305 (G > A), F/15 y/H | mAA | Affected twin sister | None | 4.6 | Response to danazol |
| C35 | n450 (G > A), F/31 y/W | sAA | Negative | None | 11 | Response to ATG + CSA |
| C131 | n322 (G > A), M/77 y/W | MDS RA | Negative | del(5)(q15;q13) | Not done | No response to Epo or CSA |
Case no. . | Mutation, sex/age/race . | Diagnosis . | Family history . | Chromosome abnormality . | Telomere length in leukocytes, kb . | Treatment response . |
|---|---|---|---|---|---|---|
| C1 | n305 (G > A), F/15 y/H | mAA | Affected twin sister | None | 4.6 | Response to danazol |
| C35 | n450 (G > A), F/31 y/W | sAA | Negative | None | 11 | Response to ATG + CSA |
| C131 | n322 (G > A), M/77 y/W | MDS RA | Negative | del(5)(q15;q13) | Not done | No response to Epo or CSA |
F indicates female; H, Hispanic; W, white; M, Male; mAA, moderate aplastic anemia; ATG, antithymocyte globulin; CSA, cyclosporin A; sAA, severe aplastic anemia; RA, refractory anemia; Epo, erythropoietin