{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,6]],"date-time":"2026-03-06T13:05:00Z","timestamp":1772802300762,"version":"3.50.1"},"reference-count":39,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2017,6,21]],"date-time":"2017-06-21T00:00:00Z","timestamp":1498003200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Acta Ophthalmologica"],"published-print":{"date-parts":[[2018,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Purpose<\/jats:title><jats:p>To present a novel Finnish double nucleotide variant in the iron\u2010responsive element (<jats:styled-content style=\"fixed-case\">IRE<\/jats:styled-content>) of the ferritin L\u2010chain gene (<jats:italic><jats:styled-content style=\"fixed-case\">FTL<\/jats:styled-content><\/jats:italic>) leading to hyperferritinaemia\u2010cataract syndrome (<jats:styled-content style=\"fixed-case\">HHCS<\/jats:styled-content>).<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Genomic <jats:styled-content style=\"fixed-case\">DNA<\/jats:styled-content> extracted from peripheral blood leucocytes and synthetized with three different primers flanking the <jats:styled-content style=\"fixed-case\">IRE<\/jats:styled-content> in the <jats:italic><jats:styled-content style=\"fixed-case\">FTL<\/jats:styled-content><\/jats:italic> 5\u2032\u2010untranslated region of the <jats:italic><jats:styled-content style=\"fixed-case\">FTL<\/jats:styled-content><\/jats:italic> was used in polymerase chain reaction (PCR). Thereafter, Sanger sequencing was performed on the 487\u2010bp and 602\u2010bp <jats:styled-content style=\"fixed-case\">PCR<\/jats:styled-content> amplification products with specific primers to reveal <jats:italic><jats:styled-content style=\"fixed-case\">FTL<\/jats:styled-content><\/jats:italic> <jats:styled-content style=\"fixed-case\">IRE<\/jats:styled-content> mutations.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>A 58\u2010year\u2010old female patient with elevated serum ferritin level (1339\u00a0<jats:italic>\u03bc<\/jats:italic>g\/l) was diagnosed with <jats:styled-content style=\"fixed-case\">HHCS<\/jats:styled-content> after extensive workup. Genetic testing identified a novel double point mutation g.48965355G&gt;C (chr19, hg19) and g.48965356G&gt;T (chr19, hg19) in the lower stem region of the <jats:styled-content style=\"fixed-case\">IRE<\/jats:styled-content> canonical structure of the <jats:italic><jats:styled-content style=\"fixed-case\">FTL<\/jats:styled-content><\/jats:italic>.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>After excluding other causes, elevated serum ferritin level in a person with early onset cataract is indicative for <jats:styled-content style=\"fixed-case\">HHCS<\/jats:styled-content>, a genetic disorder caused by mutation in the <jats:styled-content style=\"fixed-case\">IRE<\/jats:styled-content> of the <jats:italic><jats:styled-content style=\"fixed-case\">FTL<\/jats:styled-content><\/jats:italic>.<\/jats:p><\/jats:sec>","DOI":"10.1111\/aos.13492","type":"journal-article","created":{"date-parts":[[2017,6,21]],"date-time":"2017-06-21T10:19:11Z","timestamp":1498040351000},"page":"95-99","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["A novel double nucleotide variant in the ferritin\u2010L iron\u2010responsive element in a Finnish patient with hereditary hyperferritinaemia\u2010cataract syndrome"],"prefix":"10.1111","volume":"96","author":[{"given":"Roosa\u2010Maria","family":"Mattila","sequence":"first","affiliation":[{"name":"Faculty of Medicine University of Turku Turku Finland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Annele","family":"Sainio","sequence":"additional","affiliation":[{"name":"Department of Medical Biochemistry and Genetics University of Turku Turku 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