. 2019; 36(1): 25-28 | DOI: 10.4274/tjh.galenos.2018.2018.0194 | |||
A Frequent Mutation in the FTL Gene Causing Hyperferritinemia Cataract Syndrome in Turkish Population Is c.-160A>GBurhan Balta1, Murat Erdoğan1, Aslıhan Kiraz1, Serdal Korkmaz2, Alperen Ağadayı31Kayseri Training and Research Hospital, Clinic of Medical Genetics, Kayseri, Turkey2Kayseri Training and Research Hospital, Clinic of Hematology, Kayseri, Turkey 3Kayseri Training and Research Hospital, Clinic of Ophthalmology, Kayseri, Turkey 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. Türk Toplumunda Hiperferritinemi Katarakt Sendromuna Neden Olan FTL Genindeki Yaygın Mutasyon c.-160A>G’dirBurhan Balta1, Murat Erdoğan1, Aslıhan Kiraz1, Serdal Korkmaz2, Alperen Ağadayı31Kayseri Training and Research Hospital, Clinic of Medical Genetics, Kayseri, Turkey2Kayseri Training and Research Hospital, Clinic of Hematology, Kayseri, Turkey 3Kayseri Training and Research Hospital, Clinic of Ophthalmology, Kayseri, Turkey Amaç: 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 (FTL) 5’ kodlanmayan bölgesindeki heterozigot mutasyonların bu hastalığa neden olduğu bildirilmiştir. Biz bu çalışmada Orta Anadolu’da HFKS’ye neden olan FTL gen mutasyonlarını ve klinik etkilerini araştırmayı amaçladık. Burhan Balta, Murat Erdoğan, Aslıhan Kiraz, Serdal Korkmaz, Alperen Ağadayı. A Frequent Mutation in the FTL Gene Causing Hyperferritinemia Cataract Syndrome in Turkish Population Is c.-160A>G. . 2019; 36(1): 25-28 Corresponding Author: Burhan Balta, Türkiye |
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