New mutations in HFE2 and TFR2 genes causing non HFE-related hereditary hemochromatosis
Autor/a
Hernández, Gonzalo
Ferrer-Cortès, Xenia
Venturi, Veronica
Musri, Melina
Floor Pilquil, Martin
Muñoz Torres, Pau Marc
Hernandez Rodríguez, Ines
Ruiz Mínguez, Maria Àngels
Kelleher, Nicholas J.
Pelucchi, Sara
Piperno, Alberto
Plensa Alberca, Esther
Gener Ricós, Georgina
Cañamero Giró, Eloi
Pérez-Montero, Santiago
Tornador, Cristian
Villà-Freixa, Jordi
Sánchez, Mayka
Fecha de publicación
2021ISSN
2073-4425
Resumen
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.
Tipo de documento
Artículo
Versión del documento
Versión publicada
Lengua
Inglés
Materias (CDU)
61 - Medicina
Palabras clave
Hemocromatosi hereditària
Hemocromatosi hereditària relacionada amb HFE
Sobrecàrrega de ferro
Gen TFR2
Gen HFE2
Mutacions
Hemocromatosi hereditària no relacionada amb HFE
Hemocromatosis hereditaria
Hemocromatosis hereditaria relacionada con HFE
Sobrecarga de hierro
Gen TFR2
Gen HFE2
Mutaciones
Hemocromatosis hereditaria no relacionada con HFE
Hereditary hemochromatosis
Hereditary HFE-related hemochromatosis
Iron overload
TFR2 gene
HFE2 gene
Mutations
Hereditary hemochromatosis not related to HFE
Páginas
25
Publicado por
MDPI
Colección
12;12
Publicado en
Genes
Citación
Hernández, Gonzalo; Ferrer-Cortès, Xenia; Venturi, Veronica [et al.]. New mutations in HFE2 and TFR2 genes causing non HFE-related hereditary hemochromatosis. Genes, 2021, 12(12), 1980. Disponible en: <https://www.mdpi.com/2073-4425/12/12/1980>. Fecha de acceso: 17 ene. 2022. DOI: 10.3390/genes12121980
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