Familial Mediterranean Fever With a Single MEFV Mutation Where Is the Second Hit?
Matthew G Booty, Jae Jin Chae, Seth L Masters, Elaine F Remmers, Beverly Barham, Julie M Le, Karyl S Barron, Steve M Holland, Daniel L Kastner, Ivona Aksentijevich
ARTHRITIS AND RHEUMATISM | WILEY | Published : 2009
OBJECTIVE: Familial Mediterranean fever (FMF) has traditionally been considered an autosomal-recessive disease; however, it has been observed that a substantial number of patients with clinical FMF possess only 1 demonstrable MEFV mutation. The purpose of this study was to perform an extensive search for a second MEFV mutation in 46 patients diagnosed clinically as having FMF and carrying only 1 high-penetrance FMF mutation. METHODS: MEFV and other candidate genes were sequenced by standard capillary electrophoresis. In 10 patients, the entire 15-kb MEFV genomic region was resequenced using hybridization-based chip technology. MEFV gene expression levels were determined by quantitative rever..View full abstract
Awarded by NATIONAL INSTITUTE OF ALLERGY AND INFECTIOUS DISEASES
Awarded by NATIONAL INSTITUTE OF ARTHRITIS AND MUSCULOSKELETAL AND SKIN DISEASES
Supported by the Intramural Research program of the National Institute of Arthritis and Musculoskeletal and Skin Diseases.