Study of MEFV mutations in the Iranian population by means of reverse-hybridization teststrips
Familial Mediterranean Fever (FMF) is a hereditary inflammatory disorder caused by mutations in the MEFV gene. Carrier rates are known to be high among Turks, Armenians and Arab populations, whereas no data on the frequency and the spectrum of MEFV mutations were so far available from neighbouring Iran.
We have applied reverse-hybridisation teststrips (FMF StripAssay) to simultaneously analyse twelve common MEFV mutations in 208 asymptomatic Iranians from different regions and ethnic groups. The overall frequency of mutant alleles in our study population (15.6%) was moderate compared to Armenia, but exceeded the values known from Turkey and Iraq. The most common variant E148Q was identified in 9.6% of MEFV genes. Five other mutations (P369S, M694V, V726A, A744S, R761H) were observed with lower prevalence.
In addition, we studied the case of an 8 year old boy with short recurrent fever attacks and abdominal pain from a small village in the northwest of Iran. He turned out to be homozygous for MEFV mutation M694V. His parents were M694V/N and M694V/R761H. Several other members of this large family were found to be affected by typical symptoms of FMF and to carry MEFV mutations. Among 30 asymptomatic inhabitants of this village, who consented to participate in our study, we identified six different variants (E148Q, P369S, M680I(G/C), M694V, V726A, R761H) in a total of 13 mutant MEFV genes. Given the high frequency of MEFV mutations in Iran, the awareness for FMF and the availability of testing needs to increase significantly. (oberkanins@viennalab.co.at)