Familial Mediterranean fever in three Japanese patients, and a comparison of the frequency of MEFV gene mutations in Japanese and Mediterranean populations.

@article{Sugiura2008FamilialMF,
  title={Familial Mediterranean fever in three Japanese patients, and a comparison of the frequency of MEFV gene mutations in Japanese and Mediterranean populations.},
  author={Tomoko Sugiura and Yasushi Kawaguchi and Satoru Fujikawa and Yukiko Hirano and Toru Igarashi and Manabu Kawamoto and Kae Takagi and Masako Hara and Naoyuki Kamatani},
  journal={Modern rheumatology},
  year={2008},
  volume={18 1},
  pages={57-9}
}
We report on three Japanese patients (two families) with familial Mediterranean fever (FMF), a rare disease in the Far East. Two of the patients (siblings with definite FMF) were heterozygous for both E148Q and M694I, and the remaining patient (with probable FMF and no family history of the disease) was heterozygous for both P369S and R408Q. Although the M694I mutation is less common among Mediterranean populations, it was present in 22 (76%) of 29 Japanese patients with FMF (previously… CONTINUE READING