ArticleZeitschrift fur Rheumatologie2011
[MEFV gene mutation spectrum in familial Mediterranean fever (FMF) : a single center study in the Aegean region of Turkey].
Article in Zeitschrift fur Rheumatologie, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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6 citing papers in PubMed, 13 citations in OpenAlex.
- A plasmonic biosensor pre-diagnostic tool for Familial Mediterranean Fever.Nature communications · 2024Article
- Evidence for genetic overlap between adult onset Still's disease and hereditary periodic fever syndromes.Rheumatology international · 2018Article
- Patient with FMF and Triple MEFV Gene Mutations.Medical archives (Sarajevo, Bosnia and Herzegovina) · 2015Article
- The frequency of Familial Mediterranean fever gene mutations and genotypes at Kirikkale and comparison with the mean of regional MEFV mutation frequency of Turkey.Molecular biology reports · 2014Article
- Phenotype-genotype updates from familial Mediterranean fever database registry of Mansoura University Children' Hospital, Mansoura, Egypt.Indian journal of human genetics · 2014Article
- Familial Mediterranean fever without fever as a cause of monoarthritis.BMJ case reports · 2013Article
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5 authors at 2 institutions in 1 country.
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Abstract
objectivesFamilial Mediterranean fever (FMF), an autosomal recessive autoinflammatory disorder, is characterized by recurrent, self-limiting fever and serositis which is frequently seen in Mediterranean populations. In this study, we retrospectively evaluated the MEFV gene mutation distribution of 883 citizens of the Aegean region with preliminary diagnosis of FMF who were referred to the Tepecik Research and Education Hospital's Tissue Typing and Molecular Diagnostic Laboratory (Izmir, Turkey) between 2006 and 2009.
methodsThe FMF Strip Assay® (ViennaLab Diagnostics, Vienna, Austria) was used to determine the 12 most common MEFV gene mutations in patients prediagnosed with FMF.
findingsAllelic frequencies of the major mutations in the mutation positive groups, including M694V, E148Q, M680I(G>C), and V726A, accounted for 48.4, 16.5, 13.5, and 9.7%, respectively.
conclusionThe M694V mutation was found to be the most common mutation among FMF patients in the Aegean region, which is in accordance with mutation studies reported from other regions of the country and different ethnic populations. An English full-text version of this article is available at SpringerLink as supplemental.
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