Frequent Mutation in the

Hyperferritinemia cataract syndrome (HFCS) is an autosomal dominantly inherited disease characterized by increased serum ferritin levels and bilateral cataract formation in the early period of life. Heterozygote mutations in the 5’ untranslated region of the L-ferritin gene ( Seventeen patients from 6 families with high ferritin levels in performed serum measurements, those who were found to have cataracts in eye examinations, and families with vertical inheritance, since the disease is autosomal dominant, were included in the study. Exons, exon-intron boundaries, and 5’ and 3’ untranslated regions of The female/male ratio of the patients was 7/10. All of the patients were found to have c.-160A>G heterozygous mutation in the In the Turkish population, the prevalence of HFCS is about 1/100,000 and the commonly observed mutation is c.-160A>G mutation. Hiperferritinemi katarakt sendromu (HFKS) serum ferritin seviyelerinde artış, hayatın erken döneminde bilateral katarakt oluşumu ile karakterize otozomal dominant geçişli genetik bir hastalıktır. L-ferritin geninin ( Serum ölçümünde ferritin yüksekliği olan, göz muayenesinde kataraktı çıkan, hastalık otozomal dominant olduğu için dikey kalıtım gösteren 6 aileden 17 hasta çalışmaya dahil edildi. Hastalardaki kadın/erkek oranı 7/10 idi. Tüm hastalarda Türk popülasyonunda HFKS prevelansı yaklaşık 1/100.000’dir ve yaygın görülen mutasyon c.-160A>G’dir.