Two novel mutations R653H and E230K in the Mediterranean fever gene associated with disease

Familial Mediterranean fever (FMF) is an autosomal recessive disorder cause d by mutations in the Mediterranean fever gene (MEFV). We describe two nove l missense mutations in MEFV, R653H and E230K. Both were found in compound heterozygosity with the mutation M694V in single Turkish patients with clin ical syndromes characteristic for FMF. DNA sequencing and PCR-RFLP typing o f the families confirmed the mutations and verified recessive modes of inhe ritance. (C) 2001 Elsevier Science B.V. All rights reserved.