A novel MEFV gene mutation (A511V) in a Chilean FMF patient

Familial Mediterranean fever (FMF) is an autosomal recessive disease which is characterized by recurrent fever and inflammation of serous membranes. A Chilean FMF patient was investigated for MEFV mutations. After DNA extraction,exons 3,5,10 and 3 UTR region of MEFV gene were analyzed by DNA sequencing while E148Q and R202Q mutations of exon 2 were detected by RFLP. A novel missense mutation,A511V (c.1532C T,p.Ala511Val),was found in a heterozygous state in exon 5 of MEFV gene. Also,R202Q (c.605G A,p.Arg202Gln) was detected in heterozygous state. R202Q was of clinical value in the diagnosis of FMF when combined with a disease causing mutation. In this patient,A511V was detected in compound heterozygous state with R202Q and this association may play an important role in FMF. © 2011.