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The E148QMEFV allele is not implicated in the development of familial Mediterranean fever by Dimitri Tchernitchko; Marie Legendre; Ccile Cazeneuve; Andre Delahaye; Florence Niel; Serge Amselem is a Biochemistry, Genetics and Molecular Biology article available to read on EtoBox.

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Familial Mediterranean fever (FMF) is an autosomal recessive disorder characterized by recurrent attacks of fever and serositis, common in populations of Armenian, Arab, Sephardic Jewish and Turkish origin. Early diagnosis is crucial to start colchicine therapy that prevents the occurrence of attacks and renal amyloidosis. In the absence of functional test for FMF, the diagnosis remains clinical and is generally confirmed by molecular analysis of the MEFV gene. More than 40 missense mutations and two in-frame deletions have been reported, most of them being located in exon 10 of the gene. The M694V (c.2080A>G) mutation, the most frequent defect, is responsible for a severe phenotype when present in the homozygous state. The E148Q (c.442G>C) sequence variant, which is situated in exon 2, is also common, but its role in FMF is controversial. In order to assess the implication of the E148Q variation in FMF, we investigated 233 patients of Sephardic Jewish origin living in France and 213 disease-free relatives of these patients. The frequency of the E148Q allele was found to be similar in the two groups (3.62% a nd 3.75%, respectively, p=0.93). Most importantly, the frequency of the M6

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Author

Dimitri Tchernitchko; Marie Legendre; Ccile Cazeneuve; Andre Delahaye; Florence Niel; Serge Amselem

Publisher

Hindawi Limited

Published

2003

Language

EN

Field

Biochemistry, Genetics and Molecular Biology (Life Sciences)