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L-Ferritin: One Gene, Five Diseases; from Hereditary Hyperferritinemia to Hypoferritinemia—Report of New Cases
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 wit...
Autores principales: | , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2019
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6469184/ https://www.ncbi.nlm.nih.gov/pubmed/30678075 http://dx.doi.org/10.3390/ph12010017 |
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author | Cadenas, Beatriz Fita-Torró, Josep Bermúdez-Cortés, Mar Hernandez-Rodriguez, Inés Fuster, José Luis Llinares, María Esther Galera, Ana María Romero, Julia Lee Pérez-Montero, Santiago Tornador, Cristian Sanchez, Mayka |
author_facet | Cadenas, Beatriz Fita-Torró, Josep Bermúdez-Cortés, Mar Hernandez-Rodriguez, Inés Fuster, José Luis Llinares, María Esther Galera, Ana María Romero, Julia Lee Pérez-Montero, Santiago Tornador, Cristian Sanchez, Mayka |
author_sort | Cadenas, Beatriz |
collection | PubMed |
description | 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. |
format | Online Article Text |
id | pubmed-6469184 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2019 |
publisher | MDPI |
record_format | MEDLINE/PubMed |
spelling | pubmed-64691842019-04-24 L-Ferritin: One Gene, Five Diseases; from Hereditary Hyperferritinemia to Hypoferritinemia—Report of New Cases Cadenas, Beatriz Fita-Torró, Josep Bermúdez-Cortés, Mar Hernandez-Rodriguez, Inés Fuster, José Luis Llinares, María Esther Galera, Ana María Romero, Julia Lee Pérez-Montero, Santiago Tornador, Cristian Sanchez, Mayka Pharmaceuticals (Basel) Article 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. MDPI 2019-01-23 /pmc/articles/PMC6469184/ /pubmed/30678075 http://dx.doi.org/10.3390/ph12010017 Text en © 2019 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (http://creativecommons.org/licenses/by/4.0/). |
spellingShingle | Article Cadenas, Beatriz Fita-Torró, Josep Bermúdez-Cortés, Mar Hernandez-Rodriguez, Inés Fuster, José Luis Llinares, María Esther Galera, Ana María Romero, Julia Lee Pérez-Montero, Santiago Tornador, Cristian Sanchez, Mayka L-Ferritin: One Gene, Five Diseases; from Hereditary Hyperferritinemia to Hypoferritinemia—Report of New Cases |
title | L-Ferritin: One Gene, Five Diseases; from Hereditary Hyperferritinemia to Hypoferritinemia—Report of New Cases |
title_full | L-Ferritin: One Gene, Five Diseases; from Hereditary Hyperferritinemia to Hypoferritinemia—Report of New Cases |
title_fullStr | L-Ferritin: One Gene, Five Diseases; from Hereditary Hyperferritinemia to Hypoferritinemia—Report of New Cases |
title_full_unstemmed | L-Ferritin: One Gene, Five Diseases; from Hereditary Hyperferritinemia to Hypoferritinemia—Report of New Cases |
title_short | L-Ferritin: One Gene, Five Diseases; from Hereditary Hyperferritinemia to Hypoferritinemia—Report of New Cases |
title_sort | l-ferritin: one gene, five diseases; from hereditary hyperferritinemia to hypoferritinemia—report of new cases |
topic | Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6469184/ https://www.ncbi.nlm.nih.gov/pubmed/30678075 http://dx.doi.org/10.3390/ph12010017 |
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