Table 1.
Characteristics of subjects with dyskeratosis congenita or DC-like phenotypes.
Number of Subjects | Median Age in years, (range) | Males: Females | Causative Gene | |||||
---|---|---|---|---|---|---|---|---|
DKC1 | TERC | TERT | Unknown# | |||||
DC* | Adults | 7 | 19 (18–50) | 5:2 | 3 | 2 | 2 | |
Children | 3 | 15 (9–16) | 2:1 | 2 | 1 | |||
DC-like | Adults | 1 | 31 | 0:1 | 1 | |||
Children | 3 | 16 (13–17) | 0:3 | 3 | ||||
Overall | 14 | 18.5 (9–50) | 8:6 | 3 | 2 | 2 | 7 |
One 19 year-old male with DC had the Hoyeraal-Hreidarsson syndrome variant.
Subjects with an unknown causative gene were tested and found to be wild-type for the seven known genes which, when mutated, can cause DC.
Abbreviations: DC, dyskeratosis congenita; DKC1, dyskerin; TERC, RNA component of telomerase; TERT, telomerase