Research Article

Familial Mediterranean Gene (MEFV) Mutation in Parents of Children with Familial Mediterranean Fever: What Are the Exceptions?

Table 1

Frequency of different genotype in Familial Mediterranean Fever patients.

GenotypeFrequency (percent)

Heterozygote 17(40)E148Q7(16)

M694V5(12)

M680I(G>C)2(5)

P369S1(2)

V726A1(2)

M694I1(2)

Compound heterozygote 16(37)M694V/R761H4(9)

M694I/R761H2(5)

M680I/E148Q2(5)

M680I/M694V3(7)

P369S/E148Q1(2)

E148Q/M694I1(2)

M694V/V726A1(2)

M680I/R761H1(2)

V726A/R761H1(2)

Homozygote 9(21)M694V/M694V4(9)

M680I/M680I3(7)

V726A/V726A2(5)

Complex alleles mutationsP369S/ E148Q/ E148Q1(2)