dc.contributor.author | Luscieti, Sara | |
dc.contributor.author | Tolle, Gabriele | |
dc.contributor.author | Aranda, Jessica | |
dc.contributor.author | Benet Campos, Carmen | |
dc.contributor.author | Risse, Frank | |
dc.contributor.author | Morán, Érica | |
dc.contributor.author | Muckenthaler, Martina U. | |
dc.contributor.author | Sánchez, Mayka | |
dc.date.accessioned | 2022-01-18T17:28:58Z | |
dc.date.available | 2022-01-18T17:28:58Z | |
dc.date.issued | 2013 | |
dc.identifier.citation | Luscieti, Sara; Tolle, Gabriele; Aranda, Jessica [et al.]. 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, 2013, 8, 30. Disponible en: <https://ojrd.biomedcentral.com/articles/10.1186/1750-1172-8-30>. Fecha de acceso: 18 ene. 2022. DOI: 10.1186/1750-1172-8-30 | ca |
dc.identifier.issn | 1750-1172 | ca |
dc.identifier.uri | http://hdl.handle.net/20.500.12328/3079 | |
dc.description.abstract | 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 families presenting high serum ferritin levels and juvenile cataract with novel mutations in the L-ferritin IRE. The mutations were further characterized by in vitro functional studies. Results: We have identified two novel mutations in the IRE of L-Ferritin causing HHCS: the Badalona +36C > U and the Heidelberg +52 G > C mutation. Both mutations conferred reduced binding affinity on recombinant Iron Regulatory Proteins (IPRs) in EMSA experiments. Interestingly, the Badalona +36C > U mutation was found not only in heterozygosity, as expected for an autosomal dominant disease, but also in the homozygous state in some affected subjects. Additionally we report an update of all mutations identified so far to cause HHCS. Conclusions: The Badalona +36C > U and Heidelberg +52 G > C mutations within the L-ferritin IRE only mildly alter the binding capacity of the Iron Regulatory Proteins but are still causative for the disease. | en |
dc.format.extent | 10 | ca |
dc.language.iso | eng | ca |
dc.publisher | Springer Nature | ca |
dc.relation.ispartof | Orphanet Journal of Rare Diseases | ca |
dc.relation.ispartofseries | 8; | |
dc.rights | This article is published under license to BioMed Central Ltd. This is an Open Access article is distributed under the terms of the Creative Commons Attribution License ( https://creativecommons.org/licenses/by/2.0 ), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. | en |
dc.rights.uri | https://creativecommons.org/licenses/by/2.0 | |
dc.subject.other | Mutacions | ca |
dc.subject.other | Ferro ferritina-L | ca |
dc.subject.other | Síndrome de cataracta d'hiperferritinèmia hereditària | ca |
dc.subject.other | Ferritina sèrica | ca |
dc.subject.other | Metabolisme del ferro | ca |
dc.subject.other | Sistema regulador IRP/IRE | ca |
dc.subject.other | Cataractes bilaterals | ca |
dc.subject.other | Hierro ferritina-L | es |
dc.subject.other | Síndrome de catarata de hiperferritinemia hereditaria | es |
dc.subject.other | Ferritina sérica | es |
dc.subject.other | Metabolismo del hierro | es |
dc.subject.other | Sistema regulador IRP/IRE | es |
dc.subject.other | Cataratas bilaterales | es |
dc.subject.other | Ferro ferritin-L | en |
dc.subject.other | Hereditary hyperferritinemia cataract syndrome | en |
dc.subject.other | Serum ferritin | en |
dc.subject.other | Iron metabolism | en |
dc.subject.other | IRP / IRE regulatory system | en |
dc.subject.other | Bilateral cataracts | en |
dc.title | Novel mutations in the ferritin-L iron-responsive element that only mildly impair IRP binding cause hereditary hyperferritinaemia cataract syndrome | en |
dc.type | info:eu-repo/semantics/article | ca |
dc.description.version | info:eu-repo/semantics/publishedVersion | ca |
dc.rights.accessLevel | info:eu-repo/semantics/openAccess | |
dc.embargo.terms | cap | ca |
dc.subject.udc | 57 | ca |
dc.identifier.doi | https://dx.doi.org/10.1186/1750-1172-8-30 | ca |