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Multicenter Study
. 1997 Sep;17(1):25-31.
doi: 10.1038/ng0997-25.

A candidate gene for familial Mediterranean fever

French FMF Consortium
Collaborators
Multicenter Study

A candidate gene for familial Mediterranean fever

French FMF Consortium. Nat Genet. 1997 Sep.

Abstract

Familial Mediterranean fever (FMF) is an autosomal recessive disorder characterized by attacks of fever and serositis. In this paper, we define a minimal co-segregating region of 60 kb containing the FMF gene (MEFV) and identify four different transcript units within this region. One of these transcripts encodes a new protein (marenostrin) related to the ret-finger protein and to butyrophllin. Four conservative missense variations co-segregating with FMF have been found within the MEFV candidate gene in 85% of the carrier chromosomes. These variations, which cluster at the carboxy terminal domain of the protein, were not present in 308 control chromosomes, including 162 validated non-carriers. We therefore propose that the sequence alterations in the marenostrin protein are responsible for the FMF disease.

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