title: Relationship of Tel Hashomer criteria and Mediterranean fever gene mutations in a cohort of Turkish familial Mediterranean fever patients.
abstract: OBJECTIVE
  To evaluate the frequency of 5 mutations and their relationship with the Tel Hashomer criteria in 85 FMF patients.
  
  
  METHODS
  We looked for mutations in the Mediterranean fever (MEFV) gene in 84 consecutive patients who admitted to the Department of Medical Genetics of Afyon Kocatepe University, with a variable (from high to low) clinical suspicion of FMF. By using polymerase chain reaction and Hybridization-ELISA methods, 5 mutations (M694V, M694I, V726A, M680I and E148Q) have been studied between December 2002 and January 2005.
  
  
  RESULTS
  We detected homozygote mutations in 12 patients (25.3%) and heterozygote mutations in 23 patients (48.9%) out of 47 patients with high clinical suspicion of FMF using Tel Hashomer criteria. In 12 patients (25.3%), no mutation was detected despite the clinical diagnosis of FMF was likely according to the Tel Hashomer clinical criteria. On the other hand, we detected homozygote mutations in 2 patients (5.4%) and heterozygote mutations in 17 patients (45.9%) out of 37 patients with low clinical suspicion of FMF using Tel Hashomer criteria. In 18 out of 37 patients (48.6%) in this group no mutation was detected.
  
  
  CONCLUSIONS
  In patients with high or low clinical suspicion of diagnosis of FMF according to Tel Hashomer criteria, the frequency of homozygote patients was significantly higher than the frequency of patients with no mutation, but it was not higher than the frequency of heterozygote patients.
authors.affiliation: Department of Medical Genetic, Medical Faculty, Afyon Kocatepe University, Cumhuriyet Mah, Cizmecioglu Vehbi Sk, Akdag Apt. No: 11/3, 03200 Afyon, Turkey. halesamli@gmail.com
authors.forename: Hale
authors.initials: H
authors.lastname: Samli
authors.forename: Omer
authors.initials: O
authors.lastname: Dogru
authors.forename: Aysegul
authors.initials: A
authors.lastname: Bukulmez
authors.forename: Erdinc
authors.initials: E
authors.lastname: Yuksel
authors.forename: Fahri
authors.initials: F
authors.lastname: Ovali
authors.forename: Mustafa
authors.initials: M
authors.lastname: Solak
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D010505:Familial Mediterranean Fever / Q000235:genetics*; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D007223:Infant; D009154:Mutation; D014421:Turkey