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- Title
Non-founder mutations in the MEFV gene establish this gene as the cause of familial Mediterranean fever (FMF).
- Authors
Bernot, A; da Silva, C; Petit, J L; Cruaud, C; Caloustian, C; Castet, V; Ahmed-Arab, M; Dross, C; Dupont, M; Cattan, D; Smaoui, N; Dodé, C; Pêcheux, C; Nédelec, B; Medaxian, J; Rozenbaum, M; Rosner, I; Delpech, M; Grateau, G; Demaille, J; Weissenbach, J; Touitou, I
- Abstract
Familial Mediterranean fever (FMF) is an autosomal recessive disorder characterized by recurring attacks of fever and serositis. It affects primarily North African Jews, Armenians, Turks and Arabs, in which a founder effect has been demonstrated. The marenostrin-pyrin-encoding gene has been proposed as a candidate gene for the disease ( MEFV ), on the basis of the identification of putative mutations clustered in exon 10 (M680V, M694I, M694V and V726A), each segregating with one ancestral haplotype. In a search for additional MEFV mutations in 120 apparently non-founder FMF chromosomes, we observed eight novel mutations in exon 2 (E148Q, E167D and T267I), exon 5 (F479L) and exon 10 (I692del K695R, A744S and R761H). Except for E148Q and K695R, all mutations were found in a single chromosome. Mutation E148Q was found in all ethnic groups studied and in association with a novel ancestral haplotype in non-Ashkenazi Jews (S2). Altogether, these new findings definitively establish the marenostrin/pyrin-encoding gene as the MEFV locus.
- Publication
Human molecular genetics, 1998, Vol 7, Issue 8, p1317
- ISSN
0964-6906
- Publication type
Journal Article
- DOI
10.1093/hmg/7.8.1317