A case of familial Mediterranean fever associated with compound heterozygosity for the pyrin variant L110P-E148Q/M680I in Japan
Koichi Oshima1 , Kazuko Yamazaki2 , Yoichi Nakajima3 , Akari Kobayashi3 , Tomochika Kato3 , Osamu Ohara1,4 , Kazunaga Agematsu2
18 August 2009
23 October 2009
8 December 2009
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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.
Familial Mediterranean fever - M680I - MEFV