Blood Research

Frequency of FHL-associated gene mutations by age (N=87).

Age at disease
onset
N (%) FHL groups Negative genetic mutations (%) LYST, RAB27A and XIAP (%)
PRF1 (%) UNC13D (%) STX11 (%) STXBP2 (%) Total (%)
0≤3 mo 28 (32.2) 3 (10.7) 7 (25.0) 2 (7.1) 10 (35.7) 22 6 (21.4) -
3 mo≤1 yr 35 (40.2) 3 (8.6) 3 (8.6) 6 (17.1) 16 (45.7) 28 5 (14.3) 2 (5.7)
1 yr≤2 yr 10 (11.5) - 1 (10.0) 4 (40.0) 1 (10.0) 6 3 (30.0) 1 (10.0)
2 yr≤14 yr 14 (16.1) 1 (7.1) 1 (7.1) 4 (28.6) - 6 4 (28.6) 4 (28.6)
Total 87 7 12 16 27 62 (71.3) 18 7
Blood Res 2021;56:86~101 https://doi.org/10.5045/br.2021.2020308
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