Telomere lengths and clinical presentations of carriers of the novel hTERT K570N mutation
| Individual . | Neutrophils . | Lymphocytes . | Diagnosis . | ||
|---|---|---|---|---|---|
| Observed TL, kb (expected TL, kb) . | Interpretation* . | Observed TL, kb (expected TL, kb) . | Interpretation* . | ||
| III-1 | 4.9 (7.7) | Very short | 3.6 (5.8) | Very short | Healthy |
| IV-1 | 5.3 (8.2) | Very short | 4.0 (6.5) | Very short | Liver fibrosis |
| IV-2 | 3.9 (8.1) | Very short | 3.3 (6.6) | Very short | AA |
| IV-3 | 5.4 (8.1) | Very short | 4.0 (6.5) | Very short | Macrocytosis |
| IV-4 | ND | ND | 4.8 (6.6) | Short | Healthy |
| V-7 | 6.7 (9.0) | Short | 5.2 (8.1) | Very short | Macrocytosis |
| V-8 | 4.5 (8.9) | Very short | 4.4 (7.9) | Very short | Macrocytosis |
| V-9 | 8.3 (9.2) | Normal | 8.0 (8.4) | Normal | Healthy |
| V-10 | 7.1 (8.8) | Short | 6.2 (7.7) | Short | Healthy |
| V-11 | 3.8 (8.6) | Very short | 3.1 (7.5) | Very short | AA |
| Individual . | Neutrophils . | Lymphocytes . | Diagnosis . | ||
|---|---|---|---|---|---|
| Observed TL, kb (expected TL, kb) . | Interpretation* . | Observed TL, kb (expected TL, kb) . | Interpretation* . | ||
| III-1 | 4.9 (7.7) | Very short | 3.6 (5.8) | Very short | Healthy |
| IV-1 | 5.3 (8.2) | Very short | 4.0 (6.5) | Very short | Liver fibrosis |
| IV-2 | 3.9 (8.1) | Very short | 3.3 (6.6) | Very short | AA |
| IV-3 | 5.4 (8.1) | Very short | 4.0 (6.5) | Very short | Macrocytosis |
| IV-4 | ND | ND | 4.8 (6.6) | Short | Healthy |
| V-7 | 6.7 (9.0) | Short | 5.2 (8.1) | Very short | Macrocytosis |
| V-8 | 4.5 (8.9) | Very short | 4.4 (7.9) | Very short | Macrocytosis |
| V-9 | 8.3 (9.2) | Normal | 8.0 (8.4) | Normal | Healthy |
| V-10 | 7.1 (8.8) | Short | 6.2 (7.7) | Short | Healthy |
| V-11 | 3.8 (8.6) | Very short | 3.1 (7.5) | Very short | AA |
*Telomere length (TL) is designated as normal, short, or very short, according to the age-adjusted TL of healthy controls, where very short indicates a length at or below the first percentile of healthy age-matched controls; short, at or below the 10th percentile; and normal, between the 10th and 90th percentiles. The expected TL values correspond to the 50th percentile of healthy controls. TLs of individuals in the family with the hTERT K570N mutation are defined based on these criteria.