A case of familial Mediterranean fever associated with compound heterozygosity for the pyrin variant L110P-E148Q/M680I in Japan.
Familial Mediterranean fever (FMF) is an autosomal recessive disorder characterized by recurrent and self-limited fever attacks and serositis/arthritis. The M694V, M694I, M680I, V726A, and E148Q mutations in MEFV, the gene responsible for FMF, account for most FMF cases in Mediterranean populations. In Japan, M694I and E148Q are most frequently detected; M694V, M680I, and V726A have not been identified so far. We report the first case of FMF associated with M680I in Japan.
Oshima
Koichi
K
Laboratory for Immunogenomics, Research Center for Allergy and Immunology, RIKEN, Yokohama Institute, Yokohama, Japan. oshima-k@umin.ac.jp
Yamazaki
Kazuko
K
Nakajima
Yoichi
Y
Kobayashi
Akari
A
Kato
Tomochika
T
Ohara
Osamu
O
Agematsu
Kazunaga
K
D000893:Anti-Inflammatory Agents / Q000627:therapeutic use; D002648:Child; D003078:Colchicine / Q000627:therapeutic use; D003598:Cytoskeletal Proteins / Q000235:genetics*; D010505:Familial Mediterranean Fever / Q000188:drug therapy / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D007564:Japan; D008297:Male; D010375:Pedigree; D020641:Polymorphism, Single Nucleotide; D000071198:Pyrin
D000893:Anti-Inflammatory Agents; D003598:Cytoskeletal Proteins; C000604192:MEFV protein, human; D000071198:Pyrin; D003078:Colchicine