Features of families with AR inheritance of homozygous TERT mutations
| . | Position . | Age, y . | Status . | Hb level, g/L . | Wbc count, ×109/L . | Platelet count, ×109/L . | MCV level, fl . | Δtel, kb . | TERC/ABL ratio* . |
|---|---|---|---|---|---|---|---|---|---|
| Family A:† DC clinical phenotype | |||||||||
| I:1 | Mother | 53 | Het | n/a | n/a | n/a | n/a | n/a | n/a |
| I:2 | Father | 57 | Het | 161 | 6.09 | 149 | 92 | n/a | n/a |
| II:1 | Sister | 28 | Het | 144 | 6.0 | 317 | 86 | n/a | n/a |
| II:4 | Index | 13 | Hom | 84‡ | 3.8 | 19 | 101 | n/a | 7.5 |
| Family B:† HH clinical phenotype | |||||||||
| I:1 | Mother | 31 | Het | 139 | 5.2 | 189 | 93 | −2.2 | 4.1 |
| I:2 | Father | 36 | Het | 154 | 5.8 | 206 | 96 | −2.3 | 3.9 |
| II:1 | Brother | 7 | Normal | 139 | 6.8 | 309 | 88 | +1.2 | 4.7 |
| II:2 | Index | 3 | Hom | 113§ | 3.1 | 21 | 103 | −6.5 | 8.0 |
| . | Position . | Age, y . | Status . | Hb level, g/L . | Wbc count, ×109/L . | Platelet count, ×109/L . | MCV level, fl . | Δtel, kb . | TERC/ABL ratio* . |
|---|---|---|---|---|---|---|---|---|---|
| Family A:† DC clinical phenotype | |||||||||
| I:1 | Mother | 53 | Het | n/a | n/a | n/a | n/a | n/a | n/a |
| I:2 | Father | 57 | Het | 161 | 6.09 | 149 | 92 | n/a | n/a |
| II:1 | Sister | 28 | Het | 144 | 6.0 | 317 | 86 | n/a | n/a |
| II:4 | Index | 13 | Hom | 84‡ | 3.8 | 19 | 101 | n/a | 7.5 |
| Family B:† HH clinical phenotype | |||||||||
| I:1 | Mother | 31 | Het | 139 | 5.2 | 189 | 93 | −2.2 | 4.1 |
| I:2 | Father | 36 | Het | 154 | 5.8 | 206 | 96 | −2.3 | 3.9 |
| II:1 | Brother | 7 | Normal | 139 | 6.8 | 309 | 88 | +1.2 | 4.7 |
| II:2 | Index | 3 | Hom | 113§ | 3.1 | 21 | 103 | −6.5 | 8.0 |
Hb indicates hemoglobin; Wbc, white blood cell; MCV, mean corpuscular volume; Δtel, observed-expected telomere length; DC, dyskeratosis congenita; HH, Hoyeraal-Hreidarsson syndrome; Het, heterozygous; Hom, homozygous; and n/a, not available.
Relative units of quantitative real-time (QRT)-PCR analysis: normal range is 1.1 to 15.5; mean is 4.68; standard deviation is 3.78.
Family A: c2431C→T, pArg811Cys (R811C); Family B: c2701C→T, pArg901Trp (R901W).
On oxymetholone.
After red blood transfusion.