MEFV gene compound heterozygous mutations in familial Mediterranean fever phenotype: a retrospective clinical and molecular study

Creative Commons License

ÇAĞLAYAN A. O., Demiryilmaz F., Ozyazgan I., Gumus H.

NEPHROLOGY DIALYSIS TRANSPLANTATION, cilt.25, sa.8, ss.2520-2523, 2010 (SCI-Expanded) identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 25 Sayı: 8
  • Basım Tarihi: 2010
  • Doi Numarası: 10.1093/ndt/gfp632
  • Dergi Adı: NEPHROLOGY DIALYSIS TRANSPLANTATION
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.2520-2523
  • Anahtar Kelimeler: compound heterozygous, genetics, MEFV gene, TURKISH POPULATION, AMYLOIDOSIS, HETEROGENEITY, COLCHICINE, FREQUENCY, SPECTRUM, FMF
  • Dokuz Eylül Üniversitesi Adresli: Hayır

Özet

Background. Familial Mediterranean fever (FMF) is an autosomal-recessive inherited inflammatory disease caused by mutations in the MEFV gene that encodes pyrin/marenostrin. It is characterized by recurrent short episodes of fever, abdominal pain and serositis affecting mainly Mediterranean and Middle Eastern populations. We determined the frequency of the compound heterozygous mutations which has been rarely reported. The present study not only investigated clinical features of child-onset FMF patients with compound heterozygous mutations but also determined whether there is a phenotype genotype correlation in the same patient population.