dc.contributor.author | Cadenas, Beatriz | |
dc.contributor.author | Fita-Torró, Josep | |
dc.contributor.author | Bermúdez-Cortés, Mar | |
dc.contributor.author | Hernandez-Rodriguez, Inés | |
dc.contributor.author | Fuster, José Luis | |
dc.contributor.author | Llinares, María Esther | |
dc.contributor.author | Galera, Ana María | |
dc.contributor.author | Lee Romero, Julia | |
dc.contributor.author | Pérez-Montero, Santiago | |
dc.contributor.author | Tornador, Cristian | |
dc.contributor.author | Sanchez, Mayka | |
dc.date.accessioned | 2022-01-17T16:23:20Z | |
dc.date.available | 2022-01-17T16:23:20Z | |
dc.date.issued | 2019 | |
dc.identifier.citation | Cadenas, Beatriz; Fita-Torró, Josep; Bermúdez-Cortés, Mar [et al.] L-ferritin: one gene, five diseases; from hereditary hyperferritinemia to hypoferritinemia - report of new cases. Pharmaceuticals, 2019, 12(1), 17. Disponible en: <https://www.mdpi.com/1424-8247/12/1/17>. Fecha de acceso: 17 ene. 2022. DOI: 10.3390/ph12010017 | ca |
dc.identifier.issn | 1424-8247 | ca |
dc.identifier.uri | http://hdl.handle.net/20.500.12328/3071 | |
dc.description.abstract | Ferritin is a multimeric protein composed of light (L-ferritin) and heavy (H-ferritin) subunits that binds and stores iron inside the cell. A variety of mutations have been reported in the L-ferritin subunit gene (FTL gene) that cause the following five diseases: (1) hereditary hyperferritinemia with cataract syndrome (HHCS), (2) neuroferritinopathy, a subtype of neurodegeneration with brain iron accumulation (NBIA), (3) benign hyperferritinemia, (4) L-ferritin deficiency with autosomal dominant inheritance, and (5) L-ferritin deficiency with autosomal recessive inheritance. Defects in the FTL gene lead to abnormally high levels of serum ferritin (hyperferritinemia) in HHCS and benign hyperferritinemia, while low levels (hypoferritinemia) are present in neuroferritinopathy and in autosomal dominant and recessive L-ferritin deficiency. Iron disturbances as well as neuromuscular and cognitive deficits are present in some, but not all, of these diseases. Here, we identified two novel FTL variants that cause dominant L-ferritin deficiency and HHCS (c.375+2T > A and 36_42delCAACAGT, respectively), and one previously reported variant (Met1Val) that causes dominant L-ferritin deficiency. Globally, genetic changes in the FTL gene are responsible for multiple phenotypes and an accurate diagnosis is useful for appropriate treatment. To help in this goal, we included a diagnostic algorithm for the detection of diseases caused by defects in FTL gene. | en |
dc.format.extent | 15 | ca |
dc.language.iso | eng | ca |
dc.publisher | MDPI | ca |
dc.relation.ispartof | Pharmaceuticals | ca |
dc.relation.ispartofseries | 12;1 | |
dc.rights | This is an open access article distributed under the Creative Commons Attribution License 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/4.0/ | |
dc.subject.other | Ferritina | ca |
dc.subject.other | Hiperferritinèmia hereditària | ca |
dc.subject.other | Metabolisme del ferro | ca |
dc.subject.other | Síndrome de cataractes | ca |
dc.subject.other | Malaltia neurodegenerativa | ca |
dc.subject.other | Ferritina | es |
dc.subject.other | Hiperferritinemia hereditaria | es |
dc.subject.other | Metabolismo del hierro | es |
dc.subject.other | Síndrome de cataratas | es |
dc.subject.other | Enfermedad neurodegenerativa | es |
dc.subject.other | Ferritin | en |
dc.subject.other | Hereditary hyperferritinemia | en |
dc.subject.other | Iron metabolism | en |
dc.subject.other | Cataract syndrome | en |
dc.subject.other | Neurodegenerative disease | en |
dc.title | L-ferritin: one gene, five diseases; from hereditary hyperferritinemia to hypoferritinemia - report of new cases | 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 | 61 | ca |
dc.identifier.doi | https://dx.doi.org/10.3390/ph12010017 | ca |