title: Prevalence of known mutations and a novel missense mutation (M694K) in the MEFV gene in a population from the Eastern Anatolia Region of Turkey.
abstract: Familial Mediterranean fever (FMF) is an autosomal recessive disorder characterized by recurrent attacks of fever and serositis. Mutations in the Mediterranean fever gene (MEFV) localized on the short arm of chromosome 16 cause FMF. Over 90 MEFV missense/nonsense mutations have been identified so far in FMF patients, mostly in the 10th exon of the gene. In this study, the molecular test results of 891 patients identified as having FMF clinical symptoms referred to Molecular Genetics Laboratory of the Department of Medical Biology and Genetics, Faculty of Medicine, Inonu University, Malatya/Turkey were retrospectively evaluated. Patients were referred by their physicians for MEFV mutation detection. The DNA fragments including hot spots within the coding sequences of the MEFV gene were amplified by PCR using genomic DNA and analyzed by pyrosequencing technique. Of the 891 patients investigated, 420 (47.13%) had at least one mutation. The most frequent mutation was E148Q, followed by M694V, M680I (G/C), P369S, V726A, R761H, A744S, M694I, K695R and F479L mutations. In addition, a novel missense mutation (M694K) was reported in seven members of a family in the course of mutation screening of patients.
authors.affiliation: Department of Medical Biology and Genetics, Faculty of Medicine, Inonu University, Malatya, Turkey. elif.yesilada@inonu.edu.tr
authors.forename: Elif
authors.initials: E
authors.lastname: Yesilada
authors.forename: Hulya
authors.initials: H
authors.lastname: Taskapan
authors.forename: Gonca
authors.initials: G
authors.lastname: Gulbay
mesh_terms: D001483:Base Sequence; D003598:Cytoskeletal Proteins / Q000235:genetics*; D017931:DNA Primers; D010505:Familial Mediterranean Fever / Q000235:genetics; D005260:Female; D006801:Humans; D008297:Male; D020125:Mutation, Missense; D010375:Pedigree; D016133:Polymerase Chain Reaction; D000071198:Pyrin; D012189:Retrospective Studies; D014421:Turkey
chemical_list: D003598:Cytoskeletal Proteins; D017931:DNA Primers; C000604192:MEFV protein, human; D000071198:Pyrin