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M. G. Papaioannou, E. Tsironi, A. Fotiadou, P. Kollia, D. Chatzoulis; Molecular Analysis of the Ferritin Light Chain Gene in Greek Patients With Hereditary Hyperferritinemia Cataract Syndrome. Invest. Ophthalmol. Vis. Sci. 2007;48(13):1335.
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Mutations in the iron regulatory element (IRE) of the Ferritin Light Chain (FTL) gene have been previously shown to be responsible for the hereditary hyperferritinemia cataract syndrome (HHCS), characterized by distinctive cataract morphology and elevated serum ferritin in the absence of iron overload. The purpose of this study is to identify causative mutations in FTL in Greek HHCS patients.
Two independent Greek families that exhibit the HHCS phenotype and 14 sporadic individuals that were referred for hyperferritinemia underwent full clinical examination (including lens photography and ferritin, total iron and transferrin measures). Genomic DNA was isolated from peripheral blood leukocytes, followed by PCR amplification and bi-directional sequencing of the IRE region of the FTL gene.
Our results show the presence of two sequence variants (C39G and A40G) in the two Greek HHCS families. The C39G variant is also present in 4 of the sporadic patients with hyperferritinemia, who after ophthalmologic examination also showed evidence of cataract. Haplotype analysis is underway to investigate the possibility of a common ancestor.
This study aims to give an indication of the prevalence of FTL mutations in the Greek population. Since the C39G variant appears in great preponderance, it may be due to a founder effect in this population.
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