title: Frequency of MEFV gene mutations in Hatay province, Mediterranean region of Turkey and report of a novel missense mutation (I247V).
abstract: In the present study, 1000 patients with clinical suspicion of FMF were retrospectively reviewed to determine the spectrum of MEFV gene mutations by using DNA sequence analysis between September, 2008 and April, 2012. Sixteen different mutations and 55 different genotypes were detected in 618 of 1000 patients. Among 16 different mutations, R202Q (21.35%) was the most frequently observed mutation; followed by E148Q (8.85%), M694V (7.95%), M680I (2.40%), V726A (1.85%), M694I (0.95%), A744S (0.80%), R761H (0.55%), P283L (0.35%), K695R (0.20%), E230K (0.15%), L110P (0.10%), I247V (0.05%), G196W (0.05%) and G304R (0.05%). In the present study, a novel missense mutation (I247V) and a silent variant (G150G) were identified in the MEFV gene. On the other hand, P238L, G632A and G304R mutations are the first cases reported from Turkey. Our results indicated that MEFV mutations are highly heterogeneous in our study population as in other regions of Turkey and mutation screening techniques such as PCR-RFLP, amplification refractory mutation system or reverse hybridization do not adequately detect uncommon or novel mutations. Therefore, it was proven that sequence analysis of the MEFV gene could be useful for detection of rare or unknown mutations.
authors.affiliation: Kahramanmaras Sutcu Imam University, Faculty of Medicine, Department of Medical Biology and Genetics, Kahramanmaras, Turkey; Mustafa Kemal University, Faculty of Medicine, Department of Medical Biology, Hatay, Turkey. Electronic address: rgunesacar@hotmail.com.
authors.forename: Ramazan
authors.initials: R
authors.lastname: Gunesacar
authors.affiliation: Mustafa Kemal University, Faculty of Medicine, Department of Internal Medicine, Hatay, Turkey.
authors.forename: Muhammet Murat
authors.initials: MM
authors.lastname: Celik
authors.affiliation: Mustafa Kemal University, Faculty of Medicine, Department of Pediatrics, Hatay, Turkey.
authors.forename: Vefik
authors.initials: V
authors.lastname: Arica
authors.affiliation: Mustafa Kemal University, Faculty of Medicine, Department of Medical Biology, Hatay, Turkey.
authors.forename: Sibel
authors.initials: S
authors.lastname: Elmacioglu
authors.affiliation: Mustafa Kemal University, Faculty of Medicine, Department of Medical Biochemistry, Hatay, Turkey.
authors.forename: Oktay Hasan
authors.initials: OH
authors.lastname: Ozturk
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D019943:Amino Acid Substitution; D002648:Child; D002675:Child, Preschool; D003598:Cytoskeletal Proteins / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D006801:Humans; D007223:Infant; D008297:Male; D019083:Mediterranean Region; D008875:Middle Aged; D020125:Mutation, Missense; D012150:Polymorphism, Restriction Fragment Length; D000071198:Pyrin; D014421:Turkey
chemical_list: D003598:Cytoskeletal Proteins; C000604192:MEFV protein, human; D000071198:Pyrin
keywords: FMF; Familial Mediterranean fever; MEFV gene; Mutation