Familial Mediterranean fever with a single MEFV mutation: where is the second hit?

ABSTRACT:

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 reverse transcription-polymerase chain reaction. Pyrin protein levels were examined by Weste

SUBMITTER: Booty MG 

PROVIDER: S-EPMC2753538 | biostudies-literature | 2009 Jun

REPOSITORIES: biostudies-literature