Different intrafamilial clinical presentation of FMF mutation carriers

Genet Test. 2008 Mar;12(1):125-7. doi: 10.1089/gte.2007.0068.

Abstract

Familial Mediterranean fever (FMF) is a heterogeneous disorder; at present, it is diagnosed using only genetic methods. In the current study, we performed molecular analysis in two families presenting with FMF. In the first family, we report two brothers with a common genotype (M694V/V726A) but with different clinical presentation. In the second family, we identified the M694V and K695R mutations in a presymptomatic carrier.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Amino Acid Substitution
  • Cytoskeletal Proteins / genetics*
  • DNA / genetics
  • Familial Mediterranean Fever / diagnosis
  • Familial Mediterranean Fever / genetics*
  • Female
  • Genotype
  • Heterozygote
  • Humans
  • Male
  • Mutation*
  • Pedigree
  • Phenotype
  • Pyrin

Substances

  • Cytoskeletal Proteins
  • MEFV protein, human
  • Pyrin
  • DNA