Journal article

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



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..

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University of Melbourne Researchers