title: The spectrum of MEFV gene mutations and genotypes in Van province, the eastern region of Turkey, and report of a novel mutation (R361T).
abstract: Familial Mediterranean fever (FMF) is the most common hereditary inflammatory periodic disease, characterized by recurrent episodes of fever and abdominal pain, synovitis, and pleuritis. The aim of this study was to determine the frequency and distribution of Mediterranean fever (MEFV) gene mutations in Van province of Eastern Anatolia and to compare them with the other studies from various regions of Turkey. Therefore, we retrospectively evaluated MEFV gene mutations in 1058 pediatric patients with suspected FMF. The MEFV gene mutations were investigated using Sanger sequencing and the multiplex minisequencing technique. We identified 37 different genotypes and 16 different mutations. The four most common mutations and allelic frequencies were M694V (36.50%), E148Q (32.77%), V726A (14.09%), and M694I (4.41%). M694V was the most common mutation, and the M694I frequency was found to be higher compared to studies from other regions of Turkey. In addition, we identified a novel missense mutation (R361T, c.1082G>C) in exon 3 of the MEFV gene in a 12-year-old boy, who had a typical FMF phenotype. In conclusion, this study evaluated the distribution of MEFV gene mutations in children with FMF as the first study conducted in Van province, Eastern Anatolia.
authors.affiliation: Department of Medical Genetics, Dicle University, Medical Faculty, Diyarbakır, Turkey. Electronic address: scoskun9@gmail.com.
authors.forename: Salih
authors.initials: S
authors.lastname: Coşkun
authors.affiliation: Department of Pediatrics, Yüzüncü Yıl University, Medical Faculty, Van, Turkey.
authors.forename: Lokman
authors.initials: L
authors.lastname: Ustyol
authors.affiliation: Department of Microbiology, Yüzüncü Yıl University, Medical Faculty, Van, Turkey.
authors.forename: Yasemin
authors.initials: Y
authors.lastname: Bayram
authors.affiliation: Department of Pediatrics, Van Training and Research Hospital, Van, Turkey.
authors.forename: M
authors.initials: M
authors.lastname: Selçuk Bektaş
authors.affiliation: Department of Pediatrics, Van Training and Research Hospital, Van, Turkey.
authors.forename: Suleyman
authors.initials: S
authors.lastname: Gulsen
authors.affiliation: Department of Medical Genetics, Dicle University, Medical Faculty, Diyarbakır, Turkey.
authors.forename: Abdullah
authors.initials: A
authors.lastname: Çim
authors.affiliation: Department of Pediatrics, Dicle University, Medical Faculty, Diyarbakır, Turkey.
authors.forename: Unal
authors.initials: U
authors.lastname: Uluca
authors.affiliation: Istanbul Genetik Grubu, Istanbul, Turkey.
authors.forename: Didem
authors.initials: D
authors.lastname: Savaş
mesh_terms: D000293:Adolescent; D000483:Alleles; D002648:Child; D002675:Child, Preschool; D003598:Cytoskeletal Proteins / Q000235:genetics*; D010505:Familial Mediterranean Fever / Q000453:epidemiology / Q000235:genetics* / Q000473:pathology; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D006579:Heterozygote; D059014:High-Throughput Nucleotide Sequencing; D006720:Homozygote; D006801:Humans; D008297:Male; D059645:Mutation Rate; D000071198:Pyrin; D012189:Retrospective Studies; D014421:Turkey / Q000453:epidemiology
chemical_list: D003598:Cytoskeletal Proteins; C000604192:MEFV protein, human; D000071198:Pyrin
keywords: Allelic frequencies; Familial Mediterranean fever; MEFV; Novel mutation; R361T; c.1082G>C