Laboratory for Immunogenomics, Research Center for Allergy and Immunology, RIKEN, Yokohama Institute, Yokohama, Japan.
Mod Rheumatol. 2010 Apr;20(2):193-5. doi: 10.1007/s10165-009-0249-y. Epub 2009 Dec 8.
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.
家族性地中海热（FMF）是一种常染色体隐性遗传病，其特征为反复发作和自限性发热发作以及浆膜炎/关节炎。导致 FMF 的 MEFV 基因中的 M694V、M694I、M680I、V726A 和 E148Q 突变，在地中海人群中占大多数 FMF 病例。在日本，最常检测到 M694I 和 E148Q；M694V、M680I 和 V726A 迄今尚未确定。我们报告了日本首例与 M680I 相关的 FMF 病例。
