Table 1. Characteristics of Johns... | American Society of Hematology

Table 1.

Characteristics of Johns Hopkins Telomere Syndrome Registry subjects

	n = 180
No. of unrelated families	113
Male, no. (%)	106 (59)
Female, no. (%)	74 (41)
Classic dyskeratosis congenita,* no. (%)	14 (7.8)
Telomere length by flowFISH, no. (%)	176 (98)
Age range, y, no. (%)
0-20	30 (17)
21-40	31 (17)
41-60	78 (43)
61-80	40 (22)
>80	1 (1)
Mutant gene,†no. (%)
TERT	76 (42.2)
TR	22 (12.2)
RTEL1	18 (10.0)
DKC1	15 (8.3)
NAF1	3 (1.7)
TINF2	3 (1.7)
PARN	2 (1.1)
ZCCHC8	3 (1.7)
Unknown	38 (21.1)

	n = 180
No. of unrelated families	113
Male, no. (%)	106 (59)
Female, no. (%)	74 (41)
Classic dyskeratosis congenita,* no. (%)	14 (7.8)
Telomere length by flowFISH, no. (%)	176 (98)
Age range, y, no. (%)
0-20	30 (17)
21-40	31 (17)
41-60	78 (43)
61-80	40 (22)
>80	1 (1)
Mutant gene,†no. (%)
TERT	76 (42.2)
TR	22 (12.2)
RTEL1	18 (10.0)
DKC1	15 (8.3)
NAF1	3 (1.7)
TINF2	3 (1.7)
PARN	2 (1.1)
ZCCHC8	3 (1.7)
Unknown	38 (21.1)

Classic dyskeratosis congenita was defined as having at least 1 of the mucocutaneous triad features.

Three patients had biallelic mutations: RTEL1 (n = 2) and TERT (n = 1); these were counted each as 1 mutation.