A Japanese case of familial Mediterranean fever with family history demonstrating a mutation in MEFV.
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.
Yoshida
Ken-ichi
K
First Department of Medicine, Hamamatsu University School of Medicine, Shizuoka.
Kanaoka
Shigeru
S
Kajimura
Masayoshi
M
Kataoka
Hideki
H
Takahira
Kenichiro
K
Osawa
Satoshi
S
Sano
Munetaka
M
Hishida
Akira
A
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
D003598:Cytoskeletal Proteins; C000604192:MEFV protein, human; D011506:Proteins; D000071198:Pyrin