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) |