Table 2 Type of MEFV gene mutation of included FMF patients (n-230), pattern, and type of gene mutation according to gene alleles
From: Articular manifestations in Egyptian children with familial Mediterranean fever
Gene mutation | Frequency (n = 230) | |||
V726A | 56 (24.35%) | |||
E148Q | 48 (20.87%) | |||
M694I | 47 (20.43%) | |||
M680I | 29 (12.61%) | |||
M694V | 24 (10.43%) | |||
A7445 | 7 (3.04%) | |||
K695R | 1 (0.43%) | |||
I692de1 | 1 (0.43%) | |||
S650F | 1 (0.43%) | |||
| Â | Type of mutation | Total (n = 400) | ||
Heterozygous | Homozygous | Compound heterozygous | ||
Count (%) | Count (%) | Count (%) | ||
V726A | 37 (9.25%) | 6 (1.50%) | 16 (4.00%) | 59 (14.75%) |
E148Q | 38 (9.50%) | 2 (0.50%) | 9 (2.25%) | 49 (12.25%) |
M694I | 18 (4.50%) | 28 (7.00%) | 15 (3.75%) | 61 (15.25%) |
M680I | 16 (4.00%) | 14 (3.50%) | 6 (1.50%) | 36 (9.00%) |
M694V | 11 (2.75%) | 4 (1.00%) | 11 (2.75%) | 26 (6.50%) |
A7445 | 5 (1.25%) | 0 (0%) | 2 (0.50%) | 7 (1.75%) |
K695R | 1 (0.25%) | 0 (0%) | 0 (0%) | 1 (0.25%) |
I692de1 | 0 (0%) | 0 (0%) | 1 (0.25%) | 1 (0.25%) |
S650F | 1 (0.25%) | 0 (0%) | 0 (0.%) | 1 (0.25%) |
Total | 127 (31.75%) | 54 (13.5%) | 60 (15 %) | 241 (60.25%) |