Transferrin receptor 2 (TfR2) and HFE mutational analysis in non-C282Y iron overload: identification of a novel TfR2 mutation
2002; Elsevier BV; Volume: 100; Issue: 3 Linguagem: Inglês
10.1182/blood-2002-01-0133
ISSN1528-0020
Autores Tópico(s)Trace Elements in Health
ResumoHereditary hemochromatosis (HH) is classically associated with a Cys282Tyr (C282Y) mutation of the HFE gene. Non-C282Y HH is a heterogeneous group accounting for 15% of HH in Northern Europe. Pathogenic mutations of the transferrin receptor 2(TfR2) gene have been identified in 4 Italian pedigrees with the latter syndrome. The goal of this study was to perform a mutational analysis of the TfR2 and HFE genes in a cohort of non-C282Y iron overload patients of mixed ethnic backgrounds. Several sequence variants were identified within theTfR2 gene, including a homozygous missense change in exon 17, c2069 A→C, which changes a glutamine to a proline residue at position 690. This putative mutation was found in a severely affected Portuguese man and 2 family members with the same genotype. In summary, pathologic TfR2 mutations are present outside of Italy, accounting for a small proportion of non-C282Y HH. Subjects: Brief Reports, Clinical Trials and Observations, Red Cells Topics: iron overload, mutation, mutation analysis, transferrin receptors, genetic pedigree, hemochromatosis, proline, genes, glutamine, homozygote
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