Genetic Investigation of a Case of Acute Familial Mediterranean Fever(FMF) with the Onset in Neonatal period.

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 exon۱۰ of MEFV gene. Results: The investigation to indentify common mutations، using ARMS-PCR and exon ۱۰ sequencing revealed an M۶۹۷/M۶۸۰I compound heterozygote mutation in exon ۱۰ of the related gene. Patient′s father and mother were heterozygote for mutations M۶۸۰I and M۶۹۴V, respectively without having the history of FMF attacks. Conclusions: It seems that accompaniment of mutations M۶۸۰I and M۶۹۴V 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 ۶۹۴V/۶۸۰I compound heterozygote mutation in Iran.

Keywords:

FMF , Compound heterozygote , Mutations , Early onset