SavedAdd your journal

Journals / Turkish Journal of Hematology / 2019 / Cilt: 36 - Sayı: 1

A Frequent Mutation in the FTL Gene Causing Hyperferritinemia Cataract Syndrome in Turkish Population Is c.-160A>G

Türk Toplumunda Hiperferritinemi Katarakt Sendromuna Neden Olan FTL Genindeki Yaygın Mutasyon c.-160A>G’dir

Burhan BALTA
Murat ERDOĞAN
Aslıhan KİRAZ
Serdal KORKMAZ
Alperen AĞADAYI
Pages
25–28
Publication Date
2022-11-05
DOI
—
🏛️Bibliographic metadata and full text access for this article are provided via DergiPark.
DergiPark Record ↗
✨

AI Summary & Key Takeaways

AI Insight
⚡ TL;DR(Too Long; Didn't Read)

All of thepatients were found to have c.-160A>G heterozygous mutation in theFTL gene.Conclusion: In the Turkish population, the prevalence of HFCS isabout 1/100,000 and the commonly observed mutation is c.-160A>Gmutation.

📌 3 Key Takeaways

🎯
Objective & Hypothesis:Objective: Hyperferritinemia cataract syndrome (HFCS) is anautosomal dominantly inherited disease characterized by increasedserum ferritin levels and bilateral cataract formation in the earlyperiod of life.
📊
Key Findings & Data:Heterozygote mutations in the 5’ untranslated regionof the L-ferritin gene (FTL) have been reported to cause this disease.In this study, our purpose was to research the FTL gene mutationsthat cause HFCS in Central Anatolia and the clinical effects of thesemutations.Materials and Methods: Seventeen patients from 6 families withhigh ferritin levels in performed serum measurements, those whowere found to have cataracts in eye examinations, and families withvertical inheritance, since the disease is autosomal dominant, wereincluded in the study.
💡
Conclusion & Impact:All of thepatients were found to have c.-160A>G heterozygous mutation in theFTL gene.Conclusion: In the Turkish population, the prevalence of HFCS isabout 1/100,000 and the commonly observed mutation is c.-160A>Gmutation.
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Domain Parameters

Abstract

Objective: Hyperferritinemia cataract syndrome (HFCS) is anautosomal dominantly inherited disease characterized by increasedserum ferritin levels and bilateral cataract formation in the earlyperiod of life. Heterozygote mutations in the 5’ untranslated regionof the L-ferritin gene (FTL) have been reported to cause this disease.In this study, our purpose was to research the FTL gene mutationsthat cause HFCS in Central Anatolia and the clinical effects of thesemutations.Materials and Methods: Seventeen patients from 6 families withhigh ferritin levels in performed serum measurements, those whowere found to have cataracts in eye examinations, and families withvertical inheritance, since the disease is autosomal dominant, wereincluded in the study. Exons, exon-intron boundaries, and 5’ and 3’untranslated regions of FTL (NM_000146) were sequenced using theSanger sequencing method.Results: The female/male ratio of the patients was 7/10. All of thepatients were found to have c.-160A>G heterozygous mutation in theFTL gene.Conclusion: In the Turkish population, the prevalence of HFCS isabout 1/100,000 and the commonly observed mutation is c.-160A>Gmutation.

Özet

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 Yöntemler: 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.

🔖

Cite This Article

BALTA, B., ERDOĞAN, M., KİRAZ, A., KORKMAZ, S., AĞADAYI, A. (2022). A Frequent Mutation in the FTL Gene Causing Hyperferritinemia Cataract Syndrome in Turkish Population Is c.-160A>G. Turkish Journal of Hematology, Cilt: 36 - Sayı: 1, 25–28. https://ajindex.com/articles/606675

📄 Full Text PDF Viewer

📄

PDF görüntüleyici hazırlanıyor...

References (11)

  1. Hansen L, Mikkelsen A, Nürnberg P, Nürnberg G, Anjum I, Eiberg H, Rosenberg T. Comprehensive mutational screening in a cohort of Danish families with hereditary congenital cataract. Invest Ophthalmol Vis Sci 2009;50:3291-3303
  2. Girelli D, Corrocher R, Bisceglia L, Olivieri O, De Franceschi L, Zelante L, Gasparini P. Molecular basis for the recently described hereditary hyperferritinemia-cataract syndrome: a mutation in the iron-responsive element of ferritin L-subunit gene (the “Verona mutation”). Blood 1995;86:4050-4053
  3. Bonneau D, Winter-Fuseau I, Loiseau MN, Amati P, Berthier M, Oriot D, Beaumont C. Bilateral cataract and high serum ferritin: a new dominant genetic disorder? J Med Genet 1995;32:778-779
  4. Beaumont C, Leneuve P, Devaux I, Scoazec JY, Berthier M, Loiseau MN, Grandchamp B, Bonneau D. Mutation in the iron responsive element of the L ferritin mRNA in a family with dominant hyperferritinaemia and cataract. Nat Genet 1995;11:444-446
  5. Luscieti S, Tolle G, Aranda J, Campos CB, Risse F, Moran E, Muckenthaler MU, Sanchez M. Novel mutations in the ferritin-L iron-responsive element that only mildly impair IRP binding cause hereditary hyperferritinaemia cataract syndrome. Orphanet J Rare Dis 2013;8:30
  6. Craig JE, Clark JB, McLeod JL, Kirkland MA, Grant G, Elder JE, Toohey MG, Kowal L, Savoia HF, Chen C, Roberts S, Wirth MG, Mackey DA. Hereditary hyperferritinemia-cataract syndrome: prevalence, lens morphology, spectrum of mutations, and clinical presentations. Arch Ophthalmol 2003;121:1753-1761
  7. Tuysuz G, Ozdemir N, Sonmez E, Kannengiesser C, Celkan T. A new family with hereditary hyperferritinemia cataract syndrome. Genet Couns 2013;24:393-397
  8. Cicilano M, Zecchina G, Roetto A, Bosio S, Infelise V, Stefani S, Mazza U, Camaschella C. Recurrent mutations in the iron regulatory element of L-ferritin in hereditary hyperferritinemia-cataract syndrome. Haematologica 1999;84:489-492
  9. Alvarez-Coca-Gonzalez J, Moreno-Carralero MI, Martinez-Perez J, Mendez M, Garcia-Ros M, Moran-Jimenez MJ. The hereditary hyperferritinemiacataract syndrome: a family study. Eur J Pediatr 2010;169:1553-1555
  10. Bertola F, Veneri D, Bosio S, Battaglia P, Disperati A, Schiavon R. Hyperferritinaemia without iron overload: pathogenic and therapeutic implications. Curr Drug Targets Immune Endocr Metabol Disord 2004;4:93- 105
  11. Garber I, Pudek M. A novel deletion in the iron-response element of the L-ferritin gene, causing hyperferritinaemia cataract syndr