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, Turkey
2Kayseri 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.
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.
Keywords: Hyperferritinemia cataract syndrome, FTL, Ferritin, Cataract, Hyperferritinemia
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, Turkey
2Kayseri 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.
Gereç ve Yöntem: Serum ölçümünde ferritin yüksekliği olan, göz muayenesinde kataraktı çıkan, hastalık otozomal dominant olduğu için dikey kalıtım gösteren 6 aileden 17 hasta çalışmaya dahil edildi. FTL geninin (NM_000146) ekzon, ekzon-intron bağlantı noktaları ve 5’ ve 3’ kodlamayan bölgeleri sanger dizileme yöntemi kullanılarak dizilendi.
Bulgular: Hastalardaki kadın/erkek oranı 7/10 idi. Tüm hastalarda FTL geninde c.-160A>G heterozigot mutasyonu tespit edilmiştir.
Sonuç: Türk popülasyonunda HFKS prevelansı yaklaşık 1/100.000’dir ve yaygın görülen mutasyon c.-160A>G’dir.
Anahtar Kelimeler: Hiperferritinemi katarakt sendromu, FTL, Ferritin, Katarakt, Hiperferritinemi
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. Turk J Hematol. 2019; 36(1): 25-28
Corresponding Author: Burhan Balta, Türkiye |
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