General characteristics of patients and healthy subjects
| Sample unique code . | Group . | Age, y . | Sex . | Affected gene . | Variant . | Expected TRF, kb . | Observed TRF, kb . | Percentile . | TL z score . |
|---|---|---|---|---|---|---|---|---|---|
| T342 | TBD | 13.6 | M | RTEL1∗ | c.A3257G p.Y1086C and c.3775_3776del p.A1259Lfs∗2 | 8.5 | 3.0 | <1st | −3.83 |
| T86 | TBD | 33.6 | M | TERT† | c.G2594A p.R865H | 7.3 | 2.8 | <1st | −3.14 |
| T801 | TBD | 26.0 | F | TERT | c.C1891T p.R631W | 7.5 | 3.3 | <1st | −2.93 |
| T1009 | TBD | 37.7 | M | TERC‡ | n.314_315del | 7.0 | 3.1 | <1st | −2.72 |
| T693 | TBD | 20.8 | F | — | Not detected | 7.9 | 4.0 | <1st | −2.72 |
| T546 | TBD | 37.9 | M | TERC | n.110_113delGACT | 7.1 | 3.5 | <1st | −2.53 |
| T548 | TBD | 31.6 | F | TERC | n.110_113delGACT | 7.2 | 3.7 | <1st | −2.44 |
| T521 | TBD | 32.7 | M | TERC | n.110_113delGACT | 7.2 | 3.8 | <10th | −2.38 |
| T420 | TBD | 12.8 | M | DKC1§ | c.C1058T p.A353V | 8.6 | 5.3 | <10th | −2.31 |
| T310 | TBD | 28.3 | M | RTEL1 | c.3775_3776del p.A1259Lfs∗2 | 7.4 | 4.2 | <1st | −2.24 |
| T881 | TBD | 56.9 | F | TERT | c.C193A p.P65T | 6.7 | 3.6 | <10th | −2.17 |
| T256 | TBD | 49.2 | F | TERT | c.C193A p.P65T | 6.8 | 3.9 | <10th | −2.06 |
| T324 | TBD | 30.1 | F | POT1‖ | c.C437T p.P146L | 7.3 | 4.4 | <10th | −2.06 |
| T141 | TBD | 49.4 | F | TERT | c.G2594A p.R865H | 7.0 | 4.1 | <10th | −2.03 |
| T924 | TBD | 62.5 | F | TERT | c.G2368A p.V790I | 6.7 | 4.6 | <10th | −1.48 |
| T421 | TBD | 41.3 | M | TERT | c.G2594A p.R865H | 7.1 | 5.1 | <10th | −1.41 |
| T664 | TBD | 34.2 | M | TERT | c.C3234G p.F1078L | 7.3 | 5.4 | <10th | −1.34 |
| T78 | TBD | 57.2 | F | RTEL1 | c.C2227T p.R743X | 6.8 | 5.5 | 10th-20th | −1.30 |
| T127 | TBD | 55.7 | F | TERT | c.C3234G p.F1078L | 6.7 | 5.0 | <10th | −1.20 |
| T85 | TBD | 64.8 | M | TERT | c.G2594A p.R865H | 6.3 | 5.9 | 30th-40th | −0.30 |
| C5 | Healthy | 13.9 | M | — | — | 8.3 | 8.0 | 40th-50th | −0.26 |
| C3 | Healthy | 24.9 | M | — | — | 7.5 | 7.1 | 30th-40th | −0.30 |
| C10 | Healthy | 27.9 | M | — | — | 7.4 | 9.4 | 90th-95th | 1.40 |
| C1 | Healthy | 29.4 | F | — | — | 7.3 | 7.7 | 60th-70th | 0.27 |
| C4 | Healthy | 32.0 | M | — | — | 7.2 | 8.5 | 80th-84th | 0.89 |
| C7 | Healthy | 32.2 | F | — | — | 7.2 | 7.2 | 50th-60th | 0.00 |
| C6 | Healthy | 35.4 | F | — | — | 7.1 | 9.1 | 90th-95th | 1.36 |
| C2 | Healthy | 35.7 | F | — | — | 7.1 | 7.3 | 50th-60th | 0.14 |
| C8 | Healthy | 52.7 | F | — | — | 6.8 | 7.0 | 50th-60th | 0.14 |
| C9 | Healthy | 56.3 | M | — | — | 6.7 | 5.3 | 15.9th-20th | −1.02 |
| Sample unique code . | Group . | Age, y . | Sex . | Affected gene . | Variant . | Expected TRF, kb . | Observed TRF, kb . | Percentile . | TL z score . |
|---|---|---|---|---|---|---|---|---|---|
| T342 | TBD | 13.6 | M | RTEL1∗ | c.A3257G p.Y1086C and c.3775_3776del p.A1259Lfs∗2 | 8.5 | 3.0 | <1st | −3.83 |
| T86 | TBD | 33.6 | M | TERT† | c.G2594A p.R865H | 7.3 | 2.8 | <1st | −3.14 |
| T801 | TBD | 26.0 | F | TERT | c.C1891T p.R631W | 7.5 | 3.3 | <1st | −2.93 |
| T1009 | TBD | 37.7 | M | TERC‡ | n.314_315del | 7.0 | 3.1 | <1st | −2.72 |
| T693 | TBD | 20.8 | F | — | Not detected | 7.9 | 4.0 | <1st | −2.72 |
| T546 | TBD | 37.9 | M | TERC | n.110_113delGACT | 7.1 | 3.5 | <1st | −2.53 |
| T548 | TBD | 31.6 | F | TERC | n.110_113delGACT | 7.2 | 3.7 | <1st | −2.44 |
| T521 | TBD | 32.7 | M | TERC | n.110_113delGACT | 7.2 | 3.8 | <10th | −2.38 |
| T420 | TBD | 12.8 | M | DKC1§ | c.C1058T p.A353V | 8.6 | 5.3 | <10th | −2.31 |
| T310 | TBD | 28.3 | M | RTEL1 | c.3775_3776del p.A1259Lfs∗2 | 7.4 | 4.2 | <1st | −2.24 |
| T881 | TBD | 56.9 | F | TERT | c.C193A p.P65T | 6.7 | 3.6 | <10th | −2.17 |
| T256 | TBD | 49.2 | F | TERT | c.C193A p.P65T | 6.8 | 3.9 | <10th | −2.06 |
| T324 | TBD | 30.1 | F | POT1‖ | c.C437T p.P146L | 7.3 | 4.4 | <10th | −2.06 |
| T141 | TBD | 49.4 | F | TERT | c.G2594A p.R865H | 7.0 | 4.1 | <10th | −2.03 |
| T924 | TBD | 62.5 | F | TERT | c.G2368A p.V790I | 6.7 | 4.6 | <10th | −1.48 |
| T421 | TBD | 41.3 | M | TERT | c.G2594A p.R865H | 7.1 | 5.1 | <10th | −1.41 |
| T664 | TBD | 34.2 | M | TERT | c.C3234G p.F1078L | 7.3 | 5.4 | <10th | −1.34 |
| T78 | TBD | 57.2 | F | RTEL1 | c.C2227T p.R743X | 6.8 | 5.5 | 10th-20th | −1.30 |
| T127 | TBD | 55.7 | F | TERT | c.C3234G p.F1078L | 6.7 | 5.0 | <10th | −1.20 |
| T85 | TBD | 64.8 | M | TERT | c.G2594A p.R865H | 6.3 | 5.9 | 30th-40th | −0.30 |
| C5 | Healthy | 13.9 | M | — | — | 8.3 | 8.0 | 40th-50th | −0.26 |
| C3 | Healthy | 24.9 | M | — | — | 7.5 | 7.1 | 30th-40th | −0.30 |
| C10 | Healthy | 27.9 | M | — | — | 7.4 | 9.4 | 90th-95th | 1.40 |
| C1 | Healthy | 29.4 | F | — | — | 7.3 | 7.7 | 60th-70th | 0.27 |
| C4 | Healthy | 32.0 | M | — | — | 7.2 | 8.5 | 80th-84th | 0.89 |
| C7 | Healthy | 32.2 | F | — | — | 7.2 | 7.2 | 50th-60th | 0.00 |
| C6 | Healthy | 35.4 | F | — | — | 7.1 | 9.1 | 90th-95th | 1.36 |
| C2 | Healthy | 35.7 | F | — | — | 7.1 | 7.3 | 50th-60th | 0.14 |
| C8 | Healthy | 52.7 | F | — | — | 6.8 | 7.0 | 50th-60th | 0.14 |
| C9 | Healthy | 56.3 | M | — | — | 6.7 | 5.3 | 15.9th-20th | −1.02 |
Twenty patients with short-telomere syndromes, and 10 healthy individuals had their PBMCs collected for deep-immunophenotyping. Subjects are ordered by group and by age (ascending).
F, female; kb, kilobase; M, male.
RTEL1 NM_016434.4.
TERT NM_198253.3.
TERC NR_001566.1.
DKC1 NM_001363.
POT1 NM_015450.3.