title: Familial Mediterranean fever in two Bedouin families: mutation analysis and disease severity.
abstract: Familial Mediterranean fever (FMF) is an autosomal recessive disease prevalent among non-Ashkenazi Jews, Armenians, Arabs, and Turks. The Bedouin are nomad Arab tribes residing in desert margins of the Middle East and Arabia. FMF is quite rare in Bedouins, and here we report on two Bedouin families from southern Israel suffering from this disorder. The MEFV mutations found in the Bedouin patients M694I, V726A, and E148Q are consistent with their Arab origin. The disease severity score showed a mild to moderate severity disease in six patients. The Bedouins, leading a unique nomadic life, may prove instrumental in unraveling the role of environmental factors in the course and severity of FMF.
authors.affiliation: Pediatric Emergency Unit, Soroka Medical Center, Beer-Sheva, Israel. PRESS@BUGMAIL.BGU.AC.IL
authors.forename: J
authors.initials: J
authors.lastname: Press
authors.forename: Y
authors.initials: Y
authors.lastname: Shinar
authors.forename: P
authors.initials: P
authors.lastname: Langevitz
authors.forename: A
authors.initials: A
authors.lastname: Livneh
authors.forename: M
authors.initials: M
authors.lastname: Pras
authors.forename: D
authors.initials: D
authors.lastname: Buskila
mesh_terms: D019943:Amino Acid Substitution; D018912:Arabs; D003598:Cytoskeletal Proteins; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D010505:Familial Mediterranean Fever / Q000235:genetics* / Q000473:pathology; D005192:Family Health; D005260:Female; D006801:Humans; D007557:Israel; D008297:Male; D009154:Mutation; D010375:Pedigree; D011506:Proteins / Q000235:genetics*; D000071198:Pyrin; D012720:Severity of Illness Index
chemical_list: D003598:Cytoskeletal Proteins; C000604192:MEFV protein, human; D011506:Proteins; D000071198:Pyrin; D004247:DNA