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Article

Novel mutations in the ferritin-L iron-responsive element that only mildly impair IRP binding cause hereditary hyperferritinaemia cataract syndrome.

Orphanet journal of rare diseases - 19 Feb 2013

Luscieti Sara, Tolle Gabriele, Aranda Jessica, Campos Carmen Benet, Risse Frank, Morán Érica, Muckenthaler Martina U, Sánchez Mayka

Abstract excerpt

BACKGROUND: Hereditary Hyperferritinaemia Cataract Syndrome (HHCS) is a rare autosomal dominant disease characterized by increased serum ferritin levels and early onset of bilateral cataract. The disease is caused by mutations in the Iron-Responsive Element (IRE) located in the 5' untranslated region of L-Ferritin (FTL) mRNA, which post-transcriptionally regulates ferritin expression. METHODS: We describe two...

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Identifiers

PMID: 23421845
DOI: 10.1186/1750-1172-8-30
PMCID: PMC3585816

Genes

FTL

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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