A novel double nucleotide variant in the ferritin-L iron-responsive element in a Finnish patient with hereditary hyperferritinaemia-cataract syndrome

Abstract

<p>ABSTRACT.<br />Purpose: To present a novel Finnish double nucleotide variant in the ironresponsive<br />element (IRE) of the ferritin L-chain gene (FTL) leading to<br />hyperferritinaemia-cataract syndrome (HHCS).<br /></p><h3>Purpose</h3><p>To present a novel Finnish double nucleotide variant in the iron-responsive element (IRE) of the ferritin L-chain gene (<em>FTL</em>) leading to hyperferritinaemia-cataract syndrome (HHCS).</p><h3>Methods</h3><p>Genomic DNA extracted from peripheral blood leucocytes and synthetized with three different primers flanking the IRE in the <em>FTL</em> 5′-untranslated region of the <em>FTL</em> was used in polymerase chain reaction (PCR). Thereafter, Sanger sequencing was performed on the 487-bp and 602-bp PCR amplification products with specific primers to reveal <em>FTL</em> IRE mutations.</p><h3>Results</h3><p>A 58-year-old female patient with elevated serum ferritin level (1339 <em>μ</em>g/l) was diagnosed with HHCS after extensive workup. Genetic testing identified a novel double point mutation g.48965355G>C (chr19, hg19) and g.48965356G>T (chr19, hg19) in the lower stem region of the IRE canonical structure of the <em>FTL</em>.</p><h3>Conclusion</h3><p>After excluding other causes, elevated serum ferritin level in a person with early onset cataract is indicative for HHCS, a genetic disorder caused by mutation in the IRE of the <em>FTL</em>.</p>