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Table 2 Genotype-phenotype correlations in more than three patients with the same mutation

From: Genotype-phenotype correlation in Japanese patients with familial Mediterranean fever: differences in genotype and clinical features between Japanese and Mediterranean populations

  Patients,
number
Age at onset, years Frequency of attacks per year Duration of attacks (days) Fever ≥38°C Peritonitis Pleuritis Arthritis Efficacy of colchicine
Mean (± SD) Range Median (min, max) Median (min, max) % % % % %
E148Q/M694I 15 18.8 ± 7.8 9 to 34 12 (2.5, 54) 2.5 (0.75, 8.5) 93.3 66.7 66.7 26.7 100 (n = 11)
L110P/E148Q/M694I 14 20.4 ± 8.7 13 to 46 12 (2, 30) 3 (2, 7) 85.7 85.7 78.6 50 100 (n = 12)
M694I/wild-type 13 20.2 ± 11.4 3 to 42 9 (3, 48) 2.5 (0.08, 3) 92.3 92.3 61.5 30.8 100 (n = 12)
L110P/E148Q 13 15.2 ± 11.6 2 to 48 5.5 (1.5, 18) 3.3 (1, 17.5) 84.6 69.2 0 38.5 83.3 (n = 6)
L110P-E148Q/E148Q 6 35.5 ± 15.1 18 to 65 12 (3, 12) 5 (0.75, 8.5) 50 66.7 50 16.7 100 (n = 3)
E148Q/wild-type 21 26.5 ± 12.1 7 to 61 4 (1, 24) 2.5 (1, 75) 81 52.4 42.3 47.6 81.8 (n = 11)
P369S/R408Q 4 35.5 ± 16.7 14 to 60 24 (6, 48) 5.8 (0.2, 19) 75 25 25 50 50 (n = 2)
L110P/E148Q/ P369S/R408Q 4 18.3 ± 8.9 6 to 31 18 (5, 24) 4 (2.5, 7) 100 25 50 25 50 (n = 2)
R202Q/wild-type 8 32.4 ± 19.4 11 to 68 15 (4, 48) 5.8 (1, 14) 87.5 50 25 75 33.3 (n = 3)
E84K/wild-type 3 20.7 ± 6.2 14 to 29 4 (2, 12) 3 (1.5, 3.5) 100 0 33.3 33.3 NE
  1. SD, standard deviation, NE, not examined.