A single mutated MEFV allele in Israeli patients suffering from familial Mediterranean fever and Behçet's disease (FMF-BD)

Avi Livneh, Ivona Aksentijevich, Pnina Langevitz, Yelizaveta Torosyan, Nitza G-Shoham, Yael Shinar, Elon Pras, Nurit Zaks, Shai Padeh, Daniel L. Kastner, Mordechai Pras

Research output: Contribution to journalArticlepeer-review

Abstract

Although familial Mediterranean fever (FMF) is an autosomal recessive disorder, preliminary partial mutation analysis suggested that about 60% of FMF patients, who also suffer from Behcet's disease (FMF-BD), have only a single mutated FMF gene (MEFV). In this study, the possibility that patients with FMF-BD may indeed be carriers of a single mutated MEFV is further analysed. The presence of mutations in the coding region of MEFV of eight patients with FMF-BD, representing six families with 47 members, was determined by sequencing. A possible role for the non-carrier chromosome and for BD in the expression of FMF in patients with a single mutated MEFV allele was determined by analysing the association between these variables and the presence of FMF in heterozygous kin. Sequence analysis revealed that all eight patients had indeed only one mutation in the coding region of MEFV. The patients' non-carrier chromosomes converged into three different MEFV haplotypes and were shared by heterozygous unaffected kin in five of six families. BD was found in 10 of 11 carriers with FMF vs one of 16 carriers without FMF (P<0.001). These results suggest that FMF may be expressed in individuals harbouring only one coding mutation in MEFV. The findings argue against a role for the non-carrier chromosome in the induction of FMF, and suggest that the FMF phenotype in this cohort was associated with the simultaneous presence of BD. These findings may mirror a more generalised rule, that FMF may be precipitated in carriers of a single mutated FMF gene by factors unrelated to the other MEFV allele.

Original languageEnglish
Pages (from-to)191-196
Number of pages6
JournalEuropean Journal of Human Genetics
Volume9
Issue number3
DOIs
StatePublished - 2001

Keywords

  • Behçet's disease
  • Familial Mediterranean fever
  • MEFV
  • Mutations
  • Single nucleotide polymorphism chromosome

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