title: Expanding the panel of MEFV mutations for routine testing of patients with a clinical diagnosis of familial Mediterranean fever.
abstract: BACKGROUND
  Since the identification of the MEFV gene 198 mutations have been identified, not all of which are pathologic. The screening methods used in Israel to test patients suspected of having FMF include a kit that tests for the five main mutations (M694V, V726A, M680Ic/g, M694I, E148Q), and the sequencing of MEFV exon 10 in combination with restriction analysis for detecting additional mutations
  
  
  OBJECTIVE
  To determine the contribution of testing Ifor five additional mutations - A744S, K695R, M680Ic/t, R761H and P369S - to the molecular diagnosis of patients clinically suspected of having FMF.
  
  
  METHODS
  A total of 1637 patients were tested for FMF mutations by sequencing exon 10 and performing restriction analysis for mutations E148Q and P369S.
  
  
  RESULTS
  Nearly half the patients (812, 49.6%) did not have any detectable mutations, 581 (35.5%) had one mutation, 241 (14.7%) had two mutations, of whom 122 were homozygous and 119 compound heterozygous, and 3 had three mutations. Testing for the additional five mutations enabled us to identify 46 patients who would have been missedby the molecular diagnosis kit and 22 patients in whom only one mutation would have been found. Altogether, 4.3%of the patients would not have been diagnosed correctly had only the kit that tests for the five main mutations been used.
  
  
  CONCLUSIONS
  This study suggests that testing for the additional five mutations as well as the five main mutations in patients with a clinical presentation of FMF adds significantly to the molecular diagnosis of FMF in the Israeli population.
authors: Recanati Genetic Institute, Rabin Medical Center (Beilinson Campus), Petah Tikva, Israel.
authors: Yael
authors: Y
authors: Kilim
authors: Nurit
authors: N
authors: Magal
authors: Mordechai
authors: M
authors: Shohat