Human Molecular Genetics, Vol 7, 1581-1588, Copyright © 1998 by Oxford University Press
M Centola, I Aksentijevich and DL Kastner
The hereditary periodic fever syndromes are a group of Mendelian disorders
characterized by episodic fever and serosal or synovial inflammation.
Familial Mediterranean fever (FMF) and the hyperimmunoglobulinemia D and
periodic fever syndrome are both recessively inherited, while three
dominantly inherited syndromes have been described, the best-characterized
of which is familial Hibernian fever (FHF). The last year has seen two
major developments in this field: the FMF gene was identified on chromosome
16p by positional cloning, and a second major periodic fever locus was
mapped to distal chromosome 12p. The FMF gene (MEFV) encodes a novel 781
amino acid protein; to date, eight different missense mutations and a
number of polymorphisms have been described. Seven of the eight mutations
occur within a region of 82 amino acids near the C-terminus. Computational
analysis of the conceptual protein reveals five different domains/motifs
compatible with a nuclear effector function. MEFV is expressed
preferentially in granulocytes and myeloid bone marrow precursors, giving
rise to speculation that the protein may serve as a transcriptional
regulator of inflammation in granulocytes. The second periodic fever locus
was mapped by two different groups: one studying FHF, the other studying a
similar dominantly inherited syndrome designated familial periodic fever.
Both genes map to the same 19 cM region on distal chromosome 12p, strongly
suggesting a common locus. The molecular characterization of the periodic
fever genes should provide important new insights into the regulation of
inflammation in general.
REVIEWS
The hereditary periodic fever syndromes: molecular analysis of a new family of inflammatory diseases
Arthritis and Rheumatism Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases, NIH Building 10, Room 9N210, 9000 Rockville Pike, Bethesda, MD 20892-1820, USA.
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