Table 4 MEFV gene mutations in HSP patients and controls

Wild-type, [mutation (–)]

23(38.33%)

19(63.3%)

Presence of MEFV gene mutations

37(61.7%)

11(36.7%)

Heterozygous for one

mutation

p.V726A / –

12(20%)

5(16.6%)

p.E148Q / –

8(13.3%)

4(13.3%)

p.M680I (G/A) / –

8(13.3%)

1(3.33%)

p.M694V / –

5(8.3%)

1(3.33%)

P369S / –

1(1.7%)

Compound heterozygous for two or three mutations:

3(5%)

E148Q/M694V

2(3.3%)

M680I/M694V/V726A

1(1.70%)

Allelic Frequency of MEFV gene mutations

HSP patients

Controls

alleles(n = 120)

alleles(n = 60)

V726A

13(10.83%)

5(3.15%)

E148Q

10(8.3%)

4(2.5%)

M680I (G/A)

9(7.5%)

1(.63%)

M694V

8(6.6%)

1(.63%)

P369S

1(0.83%)

Total

41(34.1%)

11(18.33%)