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New Mutations in HFE2 and TFR2 Genes Causing Non HFE-Related Hereditary Hemochromatosis
Hereditary hemochromatosis (HH) is an iron metabolism disease clinically characterized by excessive iron deposition in parenchymal organs such as liver, heart, pancreas, and joints. It is caused by mutations in at least five different genes. HFE hemochromatosis is the most common type of hemochromat...
Autores principales: | , , , , , , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8702017/ https://www.ncbi.nlm.nih.gov/pubmed/34946929 http://dx.doi.org/10.3390/genes12121980 |
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author | Hernández, Gonzalo Ferrer-Cortès, Xenia Venturi, Veronica Musri, Melina Pilquil, Martin Floor Torres, Pau Marc Muñoz Rodríguez, Ines Hernandez Mínguez, Maria Àngels Ruiz Kelleher, Nicholas J. Pelucchi, Sara Piperno, Alberto Alberca, Esther Plensa Ricós, Georgina Gener Giró, Eloi Cañamero Pérez-Montero, Santiago Tornador, Cristian Villà-Freixa, Jordi Sánchez, Mayka |
author_facet | Hernández, Gonzalo Ferrer-Cortès, Xenia Venturi, Veronica Musri, Melina Pilquil, Martin Floor Torres, Pau Marc Muñoz Rodríguez, Ines Hernandez Mínguez, Maria Àngels Ruiz Kelleher, Nicholas J. Pelucchi, Sara Piperno, Alberto Alberca, Esther Plensa Ricós, Georgina Gener Giró, Eloi Cañamero Pérez-Montero, Santiago Tornador, Cristian Villà-Freixa, Jordi Sánchez, Mayka |
author_sort | Hernández, Gonzalo |
collection | PubMed |
description | Hereditary hemochromatosis (HH) is an iron metabolism disease clinically characterized by excessive iron deposition in parenchymal organs such as liver, heart, pancreas, and joints. It is caused by mutations in at least five different genes. HFE hemochromatosis is the most common type of hemochromatosis, while non-HFE related hemochromatosis are rare cases. Here, we describe six new patients of non-HFE related HH from five different families. Two families (Family 1 and 2) have novel nonsense mutations in the HFE2 gene have novel nonsense mutations (p.Arg63Ter and Asp36ThrfsTer96). Three families have mutations in the TFR2 gene, one case has one previously unreported mutation (Family A—p.Asp680Tyr) and two cases have known pathogenic mutations (Family B and D—p.Trp781Ter and p.Gln672Ter respectively). Clinical, biochemical, and genetic data are discussed in all these cases. These rare cases of non-HFE related hereditary hemochromatosis highlight the importance of an earlier molecular diagnosis in a specialized center to prevent serious clinical complications. |
format | Online Article Text |
id | pubmed-8702017 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | MDPI |
record_format | MEDLINE/PubMed |
spelling | pubmed-87020172021-12-24 New Mutations in HFE2 and TFR2 Genes Causing Non HFE-Related Hereditary Hemochromatosis Hernández, Gonzalo Ferrer-Cortès, Xenia Venturi, Veronica Musri, Melina Pilquil, Martin Floor Torres, Pau Marc Muñoz Rodríguez, Ines Hernandez Mínguez, Maria Àngels Ruiz Kelleher, Nicholas J. Pelucchi, Sara Piperno, Alberto Alberca, Esther Plensa Ricós, Georgina Gener Giró, Eloi Cañamero Pérez-Montero, Santiago Tornador, Cristian Villà-Freixa, Jordi Sánchez, Mayka Genes (Basel) Article Hereditary hemochromatosis (HH) is an iron metabolism disease clinically characterized by excessive iron deposition in parenchymal organs such as liver, heart, pancreas, and joints. It is caused by mutations in at least five different genes. HFE hemochromatosis is the most common type of hemochromatosis, while non-HFE related hemochromatosis are rare cases. Here, we describe six new patients of non-HFE related HH from five different families. Two families (Family 1 and 2) have novel nonsense mutations in the HFE2 gene have novel nonsense mutations (p.Arg63Ter and Asp36ThrfsTer96). Three families have mutations in the TFR2 gene, one case has one previously unreported mutation (Family A—p.Asp680Tyr) and two cases have known pathogenic mutations (Family B and D—p.Trp781Ter and p.Gln672Ter respectively). Clinical, biochemical, and genetic data are discussed in all these cases. These rare cases of non-HFE related hereditary hemochromatosis highlight the importance of an earlier molecular diagnosis in a specialized center to prevent serious clinical complications. MDPI 2021-12-13 /pmc/articles/PMC8702017/ /pubmed/34946929 http://dx.doi.org/10.3390/genes12121980 Text en © 2021 by the authors. https://creativecommons.org/licenses/by/4.0/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 (https://creativecommons.org/licenses/by/4.0/). |
spellingShingle | Article Hernández, Gonzalo Ferrer-Cortès, Xenia Venturi, Veronica Musri, Melina Pilquil, Martin Floor Torres, Pau Marc Muñoz Rodríguez, Ines Hernandez Mínguez, Maria Àngels Ruiz Kelleher, Nicholas J. Pelucchi, Sara Piperno, Alberto Alberca, Esther Plensa Ricós, Georgina Gener Giró, Eloi Cañamero Pérez-Montero, Santiago Tornador, Cristian Villà-Freixa, Jordi Sánchez, Mayka New Mutations in HFE2 and TFR2 Genes Causing Non HFE-Related Hereditary Hemochromatosis |
title | New Mutations in HFE2 and TFR2 Genes Causing Non HFE-Related Hereditary Hemochromatosis |
title_full | New Mutations in HFE2 and TFR2 Genes Causing Non HFE-Related Hereditary Hemochromatosis |
title_fullStr | New Mutations in HFE2 and TFR2 Genes Causing Non HFE-Related Hereditary Hemochromatosis |
title_full_unstemmed | New Mutations in HFE2 and TFR2 Genes Causing Non HFE-Related Hereditary Hemochromatosis |
title_short | New Mutations in HFE2 and TFR2 Genes Causing Non HFE-Related Hereditary Hemochromatosis |
title_sort | new mutations in hfe2 and tfr2 genes causing non hfe-related hereditary hemochromatosis |
topic | Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8702017/ https://www.ncbi.nlm.nih.gov/pubmed/34946929 http://dx.doi.org/10.3390/genes12121980 |
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