Vol.20 No.2

Case Report

A case of familial Mediterranean fever associated with compound heterozygosity for the pyrin variant L110P-E148Q/M680I in Japan

Authors

Koichi Oshima1 , Kazuko Yamazaki2 , Yoichi Nakajima3 , Akari Kobayashi3 , Tomochika Kato3 , Osamu Ohara1,4 , Kazunaga Agematsu2

  • Laboratory for Immunogenomics, Research Center for Allergy and Immunology, RIKEN, Yokohama Institute, Yokohama, Japan
  • Department of Infection and Host Defense, Shinshu University Graduate School of Medicine, Shinshu University School of Medicine, Matsumoto, Japan
  • Department of Pediatrics, Toyokawa City Hospital, Toyokawa, Japan
  • Department of Human Genome Technology, Kazusa DNA Research Institute, Kisarazu, Japan
Received:

18 August 2009

Accepted:

23 October 2009

Published online:

8 December 2009

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Abstract

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.

Key words

Familial Mediterranean fever - M680I - MEFV