title: Patient with FMF and Triple MEFV Gene Mutations.
abstract: BACKGROUND
  Familial Mediterranean fever (FMF) is the most common auto-inflammatory disease with monogenic (MEditerranean FeVer -MEFV- gene) inherited pattern. It mainly affects ethnic groups living along the eastern Mediterranean Sea: Turks, Sephardic Jews, Armenians, and Arabs [1]. Today FMF is not rare disease in other Mediterranean ethnicities, such as Greeks, Italians, and Iranians.
  
  
  METHODS
  Here we report a child with complex allele mutations E148Q/V726A/R761H, whilst, whose mother showed E148Q/V726A and his father had R761H/wt in analysis. The severity of the disease and genotype-phenotype correlation of patient showed no significant differences with his mother and other patients with the same two mutations, V726A/R761H, E148Q/V726A, and E148Q/R761H.
  
  
  CONCLUSIONS
  This type of mutation is the first report of triple mutations in FMF patients with no specific phenotype correlation.
authors.affiliation: Rheumatology/Pediatric /Arums/Ardabil/Iran.
authors.forename: Farhad
authors.initials: F
authors.lastname: Salehzadeh
authors.affiliation: Hematology/Pediatric/Arums/Ardabil/IRAN.
authors.forename: Afshin
authors.initials: A
authors.lastname: Fathi
mesh_terms: D002648:Child; D010505:Familial Mediterranean Fever / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D020125:Mutation, Missense / Q000235:genetics*; D010375:Pedigree; D000071198:Pyrin / Q000235:genetics*
chemical_list: C000604192:MEFV protein, human; D000071198:Pyrin
keywords: FMF; MEFV Gene; Triple mutations