Background & objective: FMF is an autosomal recessive genetic disorder characterized by acute episodes of fever accompanied by severe abdominal pain, pleurisy, arthritis, and skin rashes. Clinical symptoms of the disease vary considerably in patients, and little is known about the origin of this variation. This study investigates a male patient suffering from severe FMF and his parents.
Materials & Methods: The subject was a six-month-old boy with recurrent fever accompanied by severe abdominal pain and skin rashes. Molecular screening was conducted through polymerase chain reaction (PCR) and sequencing exon10 of MEFV gene.
Results: The investigation to indentify common mutations، using ARMS-PCR and exon 10 sequencing revealed an M697/M680I compound heterozygote mutation in exon 10 of the related gene. Patient′s father and mother were heterozygote for mutations M680I and M694V, respectively without having the history of FMF attacks.
Conclusions: It seems that accompaniment of mutations M680I and M694V even in compound heterozygote form might lead to severe phenotype FMF. This is the first report of early onset and severe phenotype FMF case associated with a 694V/680I compound heterozygote mutation in Iran.