title: Prevalence and distribution of MEFV mutations among Arabs from the Maghreb patients suffering from familial Mediterranean fever.
abstract: Familial Mediterranean fever (FMF) is an autosomal recessive inherited disease caused by mutations in MEFV. This disease is characterized by recurrent episodes of fever accompanied with topical signs of inflammation. Some patients can develop renal amyloidosis. We prospectively investigated MEFV mutations in a cohort of 209 unrelated Arab patients from Maghreb (85 Algerians, 87 Moroccans, and 37 Tunisians) with a clinical suspicion of FMF. FMF is the main cause of periodic fever syndrome in Maghreb. The most frequent MEFV mutations in this cohort were M694V and M694I. These mutations account for different proportions of the MEFV mutations in Algeria (5%, 80%), Morocco (49%, 37%), and Tunisia (50%, 25%) patients. M694I mutation is specific to the Arab population from Maghreb. Other rare mutations were observed: M680L, M680I, A744S, V726A, and E148Q. We estimated the frequency of MEFV mutation carriers among the Arab Maghrebian population at around 1%, which is significantly lower than in non-Ashkenazi Jews, Armenians or Turks.
authors.affiliation: Laboratoire de génétique, Institut national d'hygiène, 11400 Rabat, Morocco.
authors.forename: Latifa
authors.initials: L
authors.lastname: Belmahi
authors.forename: Abdelaziz
authors.initials: A
authors.lastname: Sefiani
authors.forename: Corinne
authors.initials: C
authors.lastname: Fouveau
authors.forename: Josué
authors.initials: J
authors.lastname: Feingold
authors.forename: Marc
authors.initials: M
authors.lastname: Delpech
authors.forename: Gilles
authors.initials: G
authors.lastname: Grateau
authors.forename: Catherine
authors.initials: C
authors.lastname: Dodé
mesh_terms: D000462:Algeria / Q000453:epidemiology; D018912:Arabs / Q000235:genetics* / Q000706:statistics & numerical data; D015331:Cohort Studies; D003598:Cytoskeletal Proteins / Q000235:genetics*; D005091:Exons / Q000235:genetics; D010505:Familial Mediterranean Fever / Q000453:epidemiology* / Q000235:genetics*; D005787:Gene Frequency; D006801:Humans; D009018:Morocco / Q000453:epidemiology; D000071198:Pyrin; D020133:Reverse Transcriptase Polymerase Chain Reaction; D014416:Tunisia / Q000453:epidemiology
chemical_list: D003598:Cytoskeletal Proteins; C000604192:MEFV protein, human; D000071198:Pyrin