Familial Mediterranean fever with amyloidosis associated with novel exon 2 mutation (S1791) of the MEFV gene.
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.
Timmann
Christian
C
Bernhard Nocht Institute for Tropical Medicine, Bernhard-Nocht-Strasse 74, 20359 Hamburg, Germany. timmann@bni.uni-hamburg.de
Mersinli
Osman
O
Kuhne
Kathrin
K
Sievertsen
Juergen
J
Griebel
Martin A
MA
Dieckerhoff
Jost
J
Horstmann
Rolf D
RD
D000686:Amyloidosis / Q000150:complications* / Q000235:genetics* / Q000503:physiopathology; D003598:Cytoskeletal Proteins; D005091:Exons / Q000235:genetics*; D010505:Familial Mediterranean Fever / Q000150:complications* / Q000235:genetics* / Q000503:physiopathology; D005260:Female; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics*; D020125:Mutation, Missense / Q000235:genetics; D010375:Pedigree; D010641:Phenotype; D011506:Proteins / Q000235:genetics*; D000071198:Pyrin; D019032:Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization
D003598:Cytoskeletal Proteins; C000604192:MEFV protein, human; D011506:Proteins; D000071198:Pyrin