The spectrum of MEFV gene mutations and genotypes in Van province, the eastern region of Turkey, and report of a novel mutation (R361T)

Coskun S., Ustyol L., Bayram Y., Bektas M. S., Gulsen S., ÇİM A., ...Daha Fazla

GENE, cilt.562, sa.1, ss.128-131, 2015 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 562 Sayı: 1
  • Basım Tarihi: 2015
  • Doi Numarası: 10.1016/j.gene.2015.02.059
  • Dergi Adı: GENE
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.128-131
  • Anahtar Kelimeler: Familial Mediterranean fever, MEFV, R361T, c.1082G > C, Allelic frequencies, Novel mutation, FAMILIAL MEDITERRANEAN FEVER, FREQUENCY, FMF, COMMON
  • Van Yüzüncü Yıl Üniversitesi Adresli: Evet

Özet

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 MEW 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 MEW 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. (C) 2015 Elsevier B.V. All rights reserved.