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

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-Ferri...

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Main Authors: Luscieti, Sara (Author) , Tolle, Gabriele (Author) , Aranda, Jessica (Author) , Campos, Carmen Benet (Author) , Risse, Frank (Author) , Morán, Érica (Author) , Muckenthaler, Martina (Author) , Sánchez, Mayka (Author)
Format: Article (Journal)
Language:English
Published: 19 February 2013
In: Orphanet journal of rare diseases
Year: 2013, Volume: 8, Pages: 1-10
ISSN:1750-1172
DOI:10.1186/1750-1172-8-30
Online Access:Verlag, lizenzpflichtig, Volltext: https://doi.org/10.1186/1750-1172-8-30
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Author Notes:Sara Luscieti, Gabriele Tolle, Jessica Aranda, Carmen Benet Campos, Frank Risse, Érica Morán, Martina U. Muckenthaler and Mayka Sánchez
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Summary: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.
Item Description:Gesehen am 08.06.2021
Physical Description:Online Resource
ISSN:1750-1172
DOI:10.1186/1750-1172-8-30

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