Table I.
Patient demographics and results
| Characteristics (%) |
Total (n=60) |
XLR/AR (n=23) |
TINF2 (n=14) |
Non-TINF2 AD (n=23) |
|---|---|---|---|---|
| Age (yrs) | ||||
| Median | 23 | 32 | 17 | 15 |
| Range | 1–69 | 1–46 | 2–31 | 1–69 |
| Age group (yrs) | ||||
| 0–9 (n=14) | 14 (23) | 6 (26) | 6 (43) | 2 (9) |
| 10–19 (n=14) | 14 (23) | 10 (43) | 1 (7) | 3 (13) |
| 20–29 (n=14) | 14 (23) | 5 (22) | 6 (43) | 3 (13) |
| 30–39 (n=7) | 7 (12) | 1 (4) | 1 (7) | 5 (22) |
| 40–49 (n=6) | 6 (10) | 1 (4) | 0 | 5 (22) |
| 50+ (n=6) | 6 (10) | 0 | 0 | 5 (22) |
| DC gene | ||||
| TINF2 | 14 (23) | - | 14 (100) | - |
| RTEL1 | 12 (20) | 6 (26) | - | 6 (26) |
| DKC1 | 11 (18) | 11 (48) | - | - |
| TERT | 10 (17) | 1 (4) | - | 9 (39) |
| TERC | 8 (13) | - | - | 8 (35) |
| PARN | 3 (5) | 3 (13) | - | - |
| ACD | 1 (2) | 1 (4) | - | - |
| WRAP53 | 1 (2) | 1 (4) | - | - |
| CTC1 | 0 | 0 | - | - |
| NHP2 | 0 | 0 | - | - |
| NOP10 | 0 | 0 | - | - |
| Sex | ||||
| Male | 44 (73) | 20 (87) | 12 (86) | 12 (52) |
| Female | 16 (27) | 3 (13) | 2 (14) | 11 (48) |
| # Triad features | ||||
| 0/3 | 6 (10) | 0 | 0 | 6 (26) |
| 1/3 | 17 (28) | 6 (26) | 2 (14) | 9 (39) |
| 2/3 | 15 (25) | 6 (26) | 4 (29) | 5 (22) |
| 3/3 | 22 (37) | 11 (48) | 8 (57) | 3 (13) |
| # Total features | ||||
| 0–2 | 23 (38) | 7 (30) | 3 (21) | 13 (57) |
| 3–5 | 21 (35) | 7 (30) | 4 (29) | 10 (43) |
| 6–9 | 16 (27) | 9 (39) | 7 (50) | 0 |
XLR:X-linked recessive inheritance, pathogenic variants in DKC1. AR: autosomal recessive, pathogenic variants in RTEL1, PARN, ACD, TERT, and WRAP53. AD: autosomal dominant, pathogenic variants in TERT, TERC, and RTEL1. Parenthesis indicate percent of total with specified inheritance pattern (%).