Table 1.

Characteristics of study participants

	Dyskeratosis congenita (N = 31)	Mutation‐free relatives (N = 51)
Age in years; median (range)	21.2 (3.0–47.7)	36.3 (3.8–59.4)
Gender Male: Female	23:8	23:28
Genetic cause number (%)
TINF2	9 (29.0%)	Mutation‐negative
DKC1	7 (22.6%)
TERC	5 (16.1%)
TERT	5 (16.1%)
WRAP53	2 (6.5%)
RTEL1	1 (3.2%)
Unknown gene	2 (6.5%)
All three features of triad	11 (35.5%)	N/A
At least two features of triad number (%)	16 (52%)	N/A
Severe bone marrow failure number (%)		N/A
Present	13 (42%)
Absent	18 (58%)
RTL percentile‐for‐age; median (range)	2.7 (0.005–81.3)	51.2 (0.16–99.4)

N/A , Not applicable; RTL; relative telomere length.