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Clinical disease among patients heterozygous for familial mediterranean fever
Arthritis & Rheumatism, 06/04/09

Marek-Yagel D et al. – Findings presented in this study are highly consistent with the existence of a clinical phenotype among some patients who are heterozygous for familial Mediterranean fever (FMF); could explain the vertical transmission in some families. A single mutation in the MEFV gene may be much more common than was previously thought and may include up to 25% of pts who are diagnosed as having FMF.

• Aim was to define the molecular basis of FMF in pts with only 1 mutation in the MEFV gene
• Genetic analysis performed in 20 FMF pts, including:
  • full sequencing of complementary DNA (cDNA) samples and
  • multiplex ligation-dependent probe amplification analysis
• In pts with first-degree relatives with FMF, haplotype analysis was also performed

• A second mutation was found in 2 pts
• In the other 18 pts, additional mutations, large genomic deletions, or duplications could not be found
• Analysis of SNPs along the cDNA ruled out a lack of expression of 1 of the alleles
• In 2 of the 3 families in which more than 1 sibling had FMF, the affected siblings inherited a different MEFV allele from the parent who did not have the MEFV mutation

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