DC subjects
| . | DC patient diagnosis . | DC relatives . | ||||
|---|---|---|---|---|---|---|
| DC . | HH . | RS . | Silent . | All DC . | ||
| Number | 17 | 4 | 4 | 1 | 26 | 54 |
| Age, y | ||||||
| Median | 23 | 7.5 | 4.5 | 11 | 13 | 38 |
| Range | 3-47 | 3-13 | 1-13 | — | 1-47 | 0-87 |
| Less than 18 years old, no. (%) | 7 | 4 | 4 | 1 | 15 (58) | 11 (20)‡ |
| DC triad, no. | 15 | 3 | 1 | 0 | 19 | 0 |
| Mutations | ||||||
| DKC1 | 2 | 3 | 0 | — | 5 | 4* |
| TERC | 4 | 0 | 0 | 1† | 5 | 0 |
| TERT | 2 | 0 | 0 | — | 2 | 0 |
| Unknown | 9 | 1 | 4 | — | 14 | |
| BMF | ||||||
| None | 0 | 0 | 0 | 1 | 1 | 54 |
| Moderate | 7 | 3 | 0 | — | 10 | 0 |
| Severe | 10 | 1 | 4 | — | 15 | 0 |
| . | DC patient diagnosis . | DC relatives . | ||||
|---|---|---|---|---|---|---|
| DC . | HH . | RS . | Silent . | All DC . | ||
| Number | 17 | 4 | 4 | 1 | 26 | 54 |
| Age, y | ||||||
| Median | 23 | 7.5 | 4.5 | 11 | 13 | 38 |
| Range | 3-47 | 3-13 | 1-13 | — | 1-47 | 0-87 |
| Less than 18 years old, no. (%) | 7 | 4 | 4 | 1 | 15 (58) | 11 (20)‡ |
| DC triad, no. | 15 | 3 | 1 | 0 | 19 | 0 |
| Mutations | ||||||
| DKC1 | 2 | 3 | 0 | — | 5 | 4* |
| TERC | 4 | 0 | 0 | 1† | 5 | 0 |
| TERT | 2 | 0 | 0 | — | 2 | 0 |
| Unknown | 9 | 1 | 4 | — | 14 | |
| BMF | ||||||
| None | 0 | 0 | 0 | 1 | 1 | 54 |
| Moderate | 7 | 3 | 0 | — | 10 | 0 |
| Severe | 10 | 1 | 4 | — | 15 | 0 |
Features described in “Patients, materials, and methods.”
BMF indicates bone marrow failure; HH, Hoyeraal-Hreidarsson; RS, Revesz Syndrome; —, not applicable; and no., number.
3 mothers and 1 sister of males with DKC1 mutations were heterozygous carriers of this X-linked recessive gene, 1 mother was not a carrier.
1 silent carrier son of an affected mother with TERC mutation.
A larger proportion of DC patients was less than 18 years old compared with DC relatives (P < .002, Fisher exact).