MEFV gene mutations (M694V, V726A, M680I, and A744S) in Iranian children with Henoch-Schönlein purpura.
BACKGROUND
Henoch-Schönlein purpura (HSP) is the most common systemic vasculitis in children. Several risk factors play important role in pathogenesis of HSP. We aimed to study the MEFV gene mutations (M694V, V726A, M680I, and A744S) in Iranian children with HSP.


METHODS
50 unrelated pediatric cases were studied regarding M694V, V726A, M680I, and A744S mutations using ASO-PCR method.


RESULTS
24% of cases had a mutation. 22% of cases had M694V mutations. One out of 50 (2%) patients had V726A mutation. In 76% of cases no mutation was determined. In other hand, 13 out of 100 alleles (13%) were carrier for one mutation. 12 out of 100 alleles had M694V mutations (% 12) and I out of 100 alleles had V726A mutation (%1). In 87 out of 100 alleles no mutation was detected. M680I and A744S mutations were not found in tested group. Mutation study and analysis demonstrated that the most frequent mutation was M694V (22%). Frequency of alleles were 0.12, 0.01,0,0,0.13, and 0.87 regarding M694V, V726A, M680I, A744S, total mutation, and wild type alleles, respectively. Our findings imply that M694V was dominant mutation.


CONCLUSIONS
This report as the first investigation of its kind in Iranian Azeri Turkish patients implying that M694V mutations are more frequent in tested group in comparison with general population. So it is suggested that investigation of M694V mutations should be considered as genetic test for diagnosis of HSP among Iranian Azeri Turkish patients.
Nephro-Urology Research Center, Urmia University of Medical Sciences, Iran.
Ahmad-Ali
AA
Nikibakhsh
Mohammad
M
Houshmand
Morteza
M
Bagheri
Hashem Mahmood
HM
Zadeh
Isa Abdi
IA
Rad
D000293:Adolescent; D000483:Alleles; D002648:Child; D002675:Child, Preschool; D003598:Cytoskeletal Proteins / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D016678:Genome; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D011695:IgA Vasculitis / Q000175:diagnosis* / Q000208:ethnology / Q000235:genetics*; D007223:Infant; D007492:Iran / Q000208:ethnology; D008297:Male; D009154:Mutation / Q000235:genetics; D016133:Polymerase Chain Reaction; D000071198:Pyrin; D012307:Risk Factors
D003598:Cytoskeletal Proteins; C000604192:MEFV protein, human; D000071198:Pyrin