title: MEFV mutations in Tunisian patients suffering from familial Mediterranean fever.
abstract: OBJECTIVE
  To identify the frequency and distribution of familial Mediterranean fever (FMF) gene (MEFV) mutations in Tunisian patients.
  
  
  METHODS
  This study was performed in the Genetic Department of Tunis University Hospital. A clinical diagnosis of FMF was made according to published criteria. Mutation screening of the MEFV gene was performed in the Human Genetic Laboratory of the "Faculté de Medecine de Tunis" for 8 mutations including the 5 most common known mutations M694V, V726A, M694l, M680l, and E148Q. The tests performed were polymerase chain reaction (PCR) restriction-digestion for M694V, V726A, M680l, R761H, E148Q; amplification refractory mutation system for A744S, M694l; and PCR-electrophoresis assay for l692del.
  
  
  RESULTS
  Of the 139 unrelated patients investigated, 61 (44%) had 1 or 2 mutations. In 78 (56%) probands no mutation was identified: 28 patients were homozygous; 16 were compound-heterozygous; 2 had complex alleles; and 17 had only 1 identifiable mutation. Of the mutations, M680l, M694V, M694l, V726A, A744S, R761H, l692DEL, and E148Q accounted for 32, 27, 13, 5, 3, 1, 1, and 18%, respectively.
  
  
  CONCLUSIONS
  The profile of the MEFV gene mutations in the Tunisian population is concordant with other Arab populations but with some differences. M680l is the most common mutation, while V726A, the commonest mutation among Arabs, is rare in our population.
authors.affiliation: Faculté de Médicine, Laboratory of Human Genetics, 17 rue Jebel Lakhdar, Tunis 1007, Tunisia. habiba.chaabouni@rns.tn
authors.forename: Habiba Bouhamed
authors.initials: HB
authors.lastname: Chaabouni
authors.forename: Mohamed
authors.initials: M
authors.lastname: Ksantini
authors.forename: Ridha
authors.initials: R
authors.lastname: M'rad
authors.forename: Maher
authors.initials: M
authors.lastname: Kharrat
authors.forename: Myriam
authors.initials: M
authors.lastname: Chaabouni
authors.forename: Faouzi
authors.initials: F
authors.lastname: Maazoul
authors.forename: Zouhair
authors.initials: Z
authors.lastname: Bahloul
authors.forename: Lamia
authors.initials: L
authors.lastname: Ben Jemaa
authors.forename: Fatma
authors.initials: F
authors.lastname: Ben Moussa
authors.forename: Taoufik
authors.initials: T
authors.lastname: Ben Chaabane
authors.forename: Skander
authors.initials: S
authors.lastname: Mrad
authors.forename: Isabelle
authors.initials: I
authors.lastname: Touitou
authors.forename: Nizar
authors.initials: N
authors.lastname: Smaoui
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D003598:Cytoskeletal Proteins / Q000235:genetics*; D004252:DNA Mutational Analysis; D010505:Familial Mediterranean Fever / Q000208:ethnology / Q000235:genetics* / Q000473:pathology; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D000071198:Pyrin; D014416:Tunisia / Q000453:epidemiology
chemical_list: D003598:Cytoskeletal Proteins; C000604192:MEFV protein, human; D000071198:Pyrin