title: Familial Mediterranean fever in Georgia.
abstract: Familial Mediterranean Fever (FMF) is a hereditary autoinflammatory disorder caused by mutations in the MEFV gene. Carrier rates are known to be particularly high among Sephardic Jews, Turks, Armenians and Arab populations. Our literature survey regarding FMF and MEFV mutations in Georgia revealed a lack of existing studies. We applied multiplex PCR and reverse-hybridization teststrips (FMF StripAssay) to simultaneously analyze twelve common MEFV mutations in DNA samples from dried blood on filter cards, which had been obtained from 202 unselected newborns at various hospitals in Tbilisi, Georgia. We found 30 samples to be heterozygous and one to be compound heterozygous or carrier of a complex allele (two mutations in cis). The carrier rate of MEFV mutations (15.3%) was remarkable. The most frequently observed variants were E148Q (15x), M680I G/C (5x) and M694V (4x). Five other MEFV mutations were found at lower prevalence (V726A, A744S, R761H: 2x each; P369S, F479L: 1x each). Based on these new findings, the awareness for FMF and the availability of appropriate testing should be further promoted in Georgia.
authors.affiliation: Tbilisi State Medical University, Georgia; ViennaLab Diagnostics, Vienna, Austria; Institute of Clinical Chemistry and Laboratory Medicine, LKH Steyr, Austria.
authors.forename: K
authors.initials: K
authors.lastname: Pagava
authors.affiliation: Tbilisi State Medical University, Georgia; ViennaLab Diagnostics, Vienna, Austria; Institute of Clinical Chemistry and Laboratory Medicine, LKH Steyr, Austria.
authors.forename: B
authors.initials: B
authors.lastname: Rauscher
authors.affiliation: Tbilisi State Medical University, Georgia; ViennaLab Diagnostics, Vienna, Austria; Institute of Clinical Chemistry and Laboratory Medicine, LKH Steyr, Austria.
authors.forename: I A
authors.initials: IA
authors.lastname: Korinteli
authors.affiliation: 1Tbilisi State Medical University, Georgia; 2ViennaLab Diagnostics, Vienna, Austria; 3Institute of Clinical Chemistry and Laboratory Medicine, LKH Steyr, Austria.
authors.forename: D
authors.initials: D
authors.lastname: Shonvadze
authors.affiliation: 1Tbilisi State Medical University, Georgia; 2ViennaLab Diagnostics, Vienna, Austria; 3Institute of Clinical Chemistry and Laboratory Medicine, LKH Steyr, Austria.
authors.forename: G
authors.initials: G
authors.lastname: Kriegshauser
authors.affiliation: 1Tbilisi State Medical University, Georgia; 2ViennaLab Diagnostics, Vienna, Austria; 3Institute of Clinical Chemistry and Laboratory Medicine, LKH Steyr, Austria.
authors.forename: Ch
authors.initials: Ch
authors.lastname: Oberkanins
mesh_terms: D003598:Cytoskeletal Proteins / Q000235:genetics*; D005006:Ethnicity / Q000235:genetics; D010505:Familial Mediterranean Fever / Q000453:epidemiology* / Q000235:genetics* / Q000473:pathology; D005787:Gene Frequency; D005846:Georgia (Republic); D006579:Heterozygote; D006801:Humans; D007231:Infant, Newborn; D009154:Mutation; D010641:Phenotype; D000071198:Pyrin
chemical_list: D003598:Cytoskeletal Proteins; C000604192:MEFV protein, human; D000071198:Pyrin