Table 1.
Demographic characteristics and telomere length of dyskeratosis congenita patients by genotype and their unaffected, mutation-negative family members
| Unaffected Relatives N=51 | Dyskeratosis Congenita Patients By Genotype, N=40 | |||
|---|---|---|---|---|
| Mutations in Telomerase-Complex Genes* N=18 | Mutations in TINF2 N=11 | Unknown Gene N=11 | ||
|
Age Median (range) |
45.6 (4.9–87.1) | 24.3 (3.04–47.76) | 21.2 (3.4–71.05) | 7.9 (1.32–16.9) |
|
Gender Male: Female |
23:28 | 13:5 | 9:2 | 9:2 |
|
Absolute telomere length (Kb) Median (range) |
6.4 (3.4–10.3) | 4.0 (3.2–6.0) | 3.4 (3.0–5.2) | 3.8 (2.8–6.6) |
|
Age standardized (z-scores) Median (range) |
−0.5 (−4.1–1.5) | −3.8 (−5.7–1.5) | −4.6 (−7.1–2.2) | −5.7 (−7.8–2.4) |
|
% LINE-1 methylation Median (range) |
77.9 (68.0–83.6) | 78.1 (75.3–82.5) | 78.0 (71.7–79.7) | 79.1 (67.2–82.3) |
|
% subtelomeric methylation Median (range) |
61.8 (49.8–73.2) | 63.0 (52.7–72.5) | 59.3 (53.7–73.9) | 61.0 (52.8–73.5) |
|
% pericentromeric methylation Median (range) |
87.4 (59.4–90.9) | 86.9 (66.9–91.6) | 86.7 (83.4–89.7) | 85.3 (81.0–89.5) |
*
4 patients with TERT mutations, 5 with TERC, 7 with DKC1, and 2 with TCAB1