Abstract
Objective: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 (FTL) have been reported to cause this disease. In this study, our purpose was to research the FTL gene mutations that cause HFCS in Central Anatolia and the clinical effects of these mutations.Materials and Methods: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 FTL (NM_000146) were sequenced using the Sanger sequencing method.Results: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 FTL gene.Conclusion:In the Turkish population, the prevalence of HFCS is about 1/100,000 and the commonly observed mutation is c.-160A>G mutation.
Highlights
Cataract is defined as the opacification of the lens of the eye resulting in a decrease in vision
Hyperferritinemia cataract syndrome (HFCS) (OMIM 600886) is an autosomal dominantly inherited disease characterized by increased serum ferritin levels and bilateral cataract formation in the early period of life
While the levels of ferritin were increased, the levels differed between patients
Summary
Cataract is defined as the opacification of the lens of the eye resulting in a decrease in vision. About 25 related genes have been defined [1]. Hyperferritinemia cataract syndrome (HFCS) (OMIM 600886) is an autosomal dominantly inherited disease characterized by increased serum ferritin levels and bilateral cataract formation in the early period of life. It was first defined by Girelli et al [2] and Bonneau et al [3] and Received/Geliş tarihi: June 05, 2018 Accepted/Kabul tarihi: November 06, 2018. Balta B, et al: Frequent Mutation in the FTL Gene Causing Hyperferritinemia Cataract Syndrome Our purpose was to research the FTL gene mutations that cause HFCS in Central Anatolia and the clinical effects of these mutations
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