title: A Japanese case of familial Mediterranean fever with family history demonstrating a mutation in MEFV.
abstract: We describe a 17-year-old woman with a family history of FMF who suffered from recurrent fever accompanied by pains in the left chest and abdomen. During a five-year period she experienced attacks about once every six months. The metaraminol provocative test was positive. Genomic DNA extracted from peripheral blood lymphocytes from both her and her parents were analyzed by polymerase chain reaction (PCR), followed by cycle sequencing. We detected a mutation (ATG to ATA) in codon 694 in exon 10 of the FMF gene, MEFV, that resulted in a substitution of isoleucine for methionine (M6941) in both her and her father. This is the first Japanese case of FMF with a mutation in MEFV identified in the family history.
authors.affiliation: First Department of Medicine, Hamamatsu University School of Medicine, Shizuoka.
authors.forename: Ken-ichi
authors.initials: K
authors.lastname: Yoshida
authors.forename: Shigeru
authors.initials: S
authors.lastname: Kanaoka
authors.forename: Masayoshi
authors.initials: M
authors.lastname: Kajimura
authors.forename: Hideki
authors.initials: H
authors.lastname: Kataoka
authors.forename: Kenichiro
authors.initials: K
authors.lastname: Takahira
authors.forename: Satoshi
authors.initials: S
authors.lastname: Osawa
authors.forename: Munetaka
authors.initials: M
authors.lastname: Sano
authors.forename: Akira
authors.initials: A
authors.lastname: Hishida
mesh_terms: D000293:Adolescent; D003598:Cytoskeletal Proteins; D010505:Familial Mediterranean Fever / Q000208:ethnology / Q000235:genetics*; D005190:Family; D005260:Female; D006801:Humans; D007564:Japan; D008487:Medical History Taking; D009154:Mutation / Q000235:genetics; D011506:Proteins / Q000235:genetics*; D000071198:Pyrin; D017422:Sequence Analysis, DNA / Q000379:methods
chemical_list: D003598:Cytoskeletal Proteins; C000604192:MEFV protein, human; D011506:Proteins; D000071198:Pyrin