Mansour, Issam, Delague, Valérie, Cazeneuve, Cécile, Dodé, Catherine, Chouery, Eliane, Pêcheux, Christophe, Medlej-Hashim, Myrna, Salem, Nabiha, El Zein, Loubna, Levan-Petit, Isabelle, Lefranc, Gérard, Goossens, Michel, Delpech, Marc, Amselem, Serge, Loiselet, Jacques, Grateau, Gilles, Mégarbane, André, and Naman, Roger
Seventy-nine unrelated Lebanese patients were tested for 15 mutations in the MEFV gene: A761H, A744S, V726A, K695R, M694V, M6941, M694del, M6801 (G→C), M6801 (G→A) in exon 10, F479L in exon 5, P369S in exon 3, T267I, E167D and E148Q in exon 2, using PCR digestion, ARMS, DGGE and/or sequencing. Mutations were detected in patients belonging to all communities, most interestingly the Maronite, Greek orthodox, Greek catholic, Syriac and Chiite communities. The most frequent mutations are M694V and V726A (27% and 20% of the total alleles respectively). M694I, E148Q and M6801 mutations account respectively for 9%, 8% and 5%. Each of the K695R, E167D and F479L mutations was observed once and all the remaining mutations were not encountered. Of the alleles 33% do not carry any of the studied mutations. The mutation spectra, clinical features and severity of the disease differed among the Lebanese communities. The genotype-phenotype analysis showed a significant association (P < 0.001) between amyloidosis and the presence of mutations at codon 694 in exon 10 (both M694V and M6941). None of the patients carrying other mutations developed amyloidosis. 51-55. [ABSTRACT FROM AUTHOR]