New Mutations in HFE2 and TFR2 Genes Causing Non HFE-Related Hereditary Hemochromatosis
Por:
Hernandez, G, Ferrer-Cortes, X, Venturi, V, Musri, M, Pilquil, MF, Torres, PMM, Rodriguez, IH, Minguez, MAR, Kelleher, NJ, Pelucchi, S, Piperno, A, Alberca, EP, Ricos, GG, Giro, EC, Perez-Montero, S, Tornador, C, Villa-Freixa, J and Sanchez, M
Publicada:
1 dic 2021
Ahead of Print:
13 dic 2021
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.
Filiaciones:
Hernandez, G:
Univ Internac Catalunya UIC, Dept Basic Sci, Iron Metab Regulat & Dis Grp, Sant Cugat Del Valles 08195, Spain
BloodGenet SL, Diagnost Inherited Blood Dis, Esplugas de Llobregat 08950, Spain
Ferrer-Cortes, X:
Univ Internac Catalunya UIC, Dept Basic Sci, Iron Metab Regulat & Dis Grp, Sant Cugat Del Valles 08195, Spain
BloodGenet SL, Diagnost Inherited Blood Dis, Esplugas de Llobregat 08950, Spain
Venturi, V:
Univ Internac Catalunya UIC, Dept Basic Sci, Iron Metab Regulat & Dis Grp, Sant Cugat Del Valles 08195, Spain
Musri, M:
BloodGenet SL, Diagnost Inherited Blood Dis, Esplugas de Llobregat 08950, Spain
Pilquil, MF:
Univ Int Catalunya, Fac Med & Hlth Sci, Dept Basic Sci, Sant Cugat Del Valles 08195, Spain
Univ Cent Catalunya, Univ Vic, Fac Sci & Technol, Dept Biosci, Vic 08500, Spain
Torres, PMM:
Univ Int Catalunya, Fac Med & Hlth Sci, Dept Basic Sci, Sant Cugat Del Valles 08195, Spain
:
Hosp Badalona Germans Trias & Pujol, Badalona 08916, Spain
Minguez, MAR:
Fdn Hosp Esperit St, Dept Lab Med, Santa Coloma Del Gramene 08923, Spain
Kelleher, NJ:
Inst Catala Oncol, Hematol Clin, Girona 17007, Spain
Pelucchi, S:
Univ Milano Bicocca, Dept Med & Surg, I-20126 Monza, Italy
Piperno, A:
Univ Milano Bicocca, Dept Med & Surg, I-20126 Monza, Italy
S Gerardo Hosp, Med Genet ASST Monza, I-20900 Monza, Italy
San Gerardo Hosp, Ctr Rare Dis Disorders Iron Metab ASST Monza, I-20900 Monza, Italy
Alberca, EP:
Inst Catala Oncol, Consorci Sanitari Maresme, Hematol & Hemoterapia, Mataro 08304, Spain
Ricos, GG:
Inst Catala Oncol, Consorci Sanitari Maresme, Hematol & Hemoterapia, Mataro 08304, Spain
Giro, EC:
Inst Catala Oncol, Consorci Sanitari Maresme, Hematol & Hemoterapia, Mataro 08304, Spain
Perez-Montero, S:
BloodGenet SL, Diagnost Inherited Blood Dis, Esplugas de Llobregat 08950, Spain
Tornador, C:
BloodGenet SL, Diagnost Inherited Blood Dis, Esplugas de Llobregat 08950, Spain
Villa-Freixa, J:
Univ Int Catalunya, Fac Med & Hlth Sci, Dept Basic Sci, Sant Cugat Del Valles 08195, Spain
Univ Cent Catalunya, Univ Vic, Fac Sci & Technol, Dept Biosci, Vic 08500, Spain
Sanchez, M:
Univ Internac Catalunya UIC, Dept Basic Sci, Iron Metab Regulat & Dis Grp, Sant Cugat Del Valles 08195, Spain
BloodGenet SL, Diagnost Inherited Blood Dis, Esplugas de Llobregat 08950, Spain
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