Clinical features of individuals with hTERT and hTR mutations
| . | Fulfilled study criteria (n = 10) . | Did not fulfill study criteria (n = 28) . |
|---|---|---|
| First diagnosis in index case | ||
| BMF | 6 (60%) | 10 (36%) |
| PF | 4 (40%) | 18 (64%) |
| Second feature (BMF or PF) in index case | 6 (60%) | 3 (11%) |
| Onset of premature graying < 25 y | 7 (70%) | 3 (11%) |
| Family history | ||
| BMF in index case and PF in family | 6 of 6 (100%) | 0 of 28 (0%) |
| PF in index case and BMF in family | 4 of 4 (100%) | 0 of 28 (0%) |
| hTERT or hTR mutation | 10 (100%) | 2 (7%) |
| . | Fulfilled study criteria (n = 10) . | Did not fulfill study criteria (n = 28) . |
|---|---|---|
| First diagnosis in index case | ||
| BMF | 6 (60%) | 10 (36%) |
| PF | 4 (40%) | 18 (64%) |
| Second feature (BMF or PF) in index case | 6 (60%) | 3 (11%) |
| Onset of premature graying < 25 y | 7 (70%) | 3 (11%) |
| Family history | ||
| BMF in index case and PF in family | 6 of 6 (100%) | 0 of 28 (0%) |
| PF in index case and BMF in family | 4 of 4 (100%) | 0 of 28 (0%) |
| hTERT or hTR mutation | 10 (100%) | 2 (7%) |
BMF indicates bone marrow failure; and PF, pulmonary fibrosis defined using criteria for idiopathic interstitial lung disease.