Familial Mediterranean fever (FMF) is an autosomal recessive disorder 
characterized by recurrent attacks of fever, serositis, and a risk for AA 
amyloidosis. FMF is caused by mutations in the Mediterranean fever gene (MEFV), 
which is expressed in blood cells of the myelomonocytic differentiation pathway. 
We identified a novel mutation S1791 in exon 2 of MEFV in two members of a 
family of Turkish origin. In both cases, S1791 was in compound heterozygosity 
with MEFV mutation M694V, and the characteristic clinical syndrome of FMF 
including amyloidosis was found. The location of S1791 in exon 2 is of interest 
because (1) amyloidosis in FMF has previously been found to be strongly 
associated with compound exon 10 mutations and (2) it supports the notion that 
the mechanism causing FMF is connected to the cytoplasmic rather than nuclear 
function of the molecule.