Table II:
Inheritance patterns of study participants
| AD (non-TINF2) | AD-TINF2 | AR | Unknown | P value | |
|---|---|---|---|---|---|
| Number | 26 | 3 | 4 | 6 | |
| Genes | 12 TERC, 9 TERT, 4 RTEL1, 1 MDM4 | 1 de novo, 2 inherited | 2 RTEL1 2 CTC1 | ||
| Age at DC/TBD diagnosis, y | 42 (15–81) | 4, 10, 33 | 15 (9–16) | 15 (11–29) | 0.0005 |
| Age at study, y Median (range) | 46 (16–81) | 13, 27, 47 | 17 (14–18) | 18 (13–31) | 0.0005 |
| BMF, N (%) | 15 (58%) | 3 (100%) | 4 (100%) | 5 (96%) | 0.151 |
| Age at BMF, y | 27 (14–46) | 3, 10, 33 | 14 (6–16) | 8 (2–21) | 0.0043 |
| HCT, N (%) | 4 (15%) | 3 (100%) | 3 (75%) | 2 (33%) | 0.002 |
| Pregnancy, N (%) | 22 (85%) | 2 (67%) | 0 | 2* (33%) | 0.002 |
| Age at 1st pregnancy, y | 27 (17–38) | 21, 31 | 16, 17 | 0.03 | |
| Age at LFU or death, y | 46 (25–81) | 16, 40, 47 | 18 (17–26) | 18 (13–32) | 0.0003 |
| N died | 7 | 2 | 0 | 2 | 0.277 |
| Age at death, y | 57 (25–63) | 16, 47 | 29, 32 | 0.23 |
AD = autosomal dominant; AR = Autosomal recessive; UK = unknown; LFU = last follow-up; BMF = bone marrow failure; N = number; HCT = hematopoietic cell transplant
*
1 induced abortion at age 17 years; y = years. All ages are median (range)
All P values are global comparing AD non-TINF2 DC, TINF2, AR and unknown using Pearson chi2 for categorical and Kruskal-Wallis for continuous variables (Stata/SE 16.1 version). All P values were more significant when AD non-TINF2 DC was compared with all others as one group (TINF2, AR and unknown) which were similar to each other (data not shown).