Last update:
07-Jul-2004

Familial Mediterranean Fever (FMF) is an autosomal recessive genetic disorder, although rare cases of autosomal dominant inheritance have been described. The phenotype is heterogeneous but generally characterized by short recurrent self-resolving attacks of fever and serositis. It is particularly common in populations of Eastern Mediterranean origin. The gene responsible for the syndrome was cloned in 1997 on chromosome 16p13.3 and named Marenostrinen-coding fever gene (MEFV). To date, 29 mutations have been identified, 5 of which are widely distributed in affected populations and are found in 74% of all FMF chromosomes. This paper describes analysis of the MEFV gene in five Greek patients suspected of suffering from FMF. Eight of the published polymorphisms were identified, in addition to a novel A>T substitution located in intron 1. The two most common mutations, M694 and E148Q, were identified in two patients each of which was heterozygous for one of the mutations. A second mutation was not identified in either of the patients. This could be an example of a rare dominant form of FMF. Alternatively the FMF-compatible phenotype in these patients was caused by other factors.

Key words: Familial mediterranean fever, Mutations, PCR, Sequencing.