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.

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