Familial Mediterranean fever (FMF) in Lebanon and Jordan: a population genetics study and report of three novel mutations

• Published in: European journal of medical genetics Vol. 48; no. 4; pp. 412 - 420
• Main Authors: Medlej-Hashim, Myrna, Serre, Jean-Louis, Corbani, Sandra, Saab, Odile, Jalkh, Nadine, Delague, Valérie, Chouery, Eliane, Salem, Nabiha, Loiselet, Jacques, Lefranc, Gérard, Mégarbané, André
• Format: Journal Article
• Language: English
• Published: Amsterdam Elsevier Masson SAS 01.10.2005; Elsevier
• Subjects: Biological and medical sciences; Consanguinity; Cytoskeletal Proteins - genetics; Diseases of the osteoarticular system; Familial Mediterranean Fever - epidemiology; Familial Mediterranean Fever - genetics; Female; FMF; Fundamental and applied biological sciences. Psychology; General aspects. Genetic counseling; Genetic Variation; Genetics of eukaryotes. Biological and molecular evolution; Genetics, Population; Genotype; Genotypes; Hardy–Weinberg; Heterozygote; Homozygote; Human; Humans; Inflammatory joint diseases; Jordan - epidemiology; Lebanon - epidemiology; M694V; Male; Medical genetics; Medical sciences; Molecular and cellular biology; Mutation - genetics; Mutations; Phenotype; Population genetics, reproduction patterns; Pyrin; Severity; Lebanon; Jordan; Asia; Mutations; Severity; M694V; FMF; Genotypes; Hardy–Weinberg; Human; Typing; Diseases of the osteoarticular system; Genotype; Population genetics; Genetic disease; Hardy-Weinberg; Microbiological investigation; Familial recurrent polyseritis; Mutation

Familial Mediterranean fever (FMF) is an autosomal recessive disease mostly frequent in Mediterranean populations. Over 50 mutations have been identified in the gene responsible for the disease, MEFV. The present study reports the frequencies of MEFV mutations in 558 Lebanese and 55 Jordanian FMF pa...