| Autor: |
Mattman, Andre, Huntsman, David, Lockitch, Gillian, Langlois, Sylvie, Buskard, Noel, Ralston, Diana, Butterfield, Yaron, Rodrigues, Pedro, Jones, Steven, Porto, Graça, Marra, Marco, De Sousa, Maria, Vatcher, Greg |
| Zdroj: |
Blood; August 2002, Vol. 100 Issue: 3 p1075-1077, 3p |
| Abstrakt: |
Hereditary hemochromatosis (HH) is classically associated with a Cys282Tyr (C282Y) mutation of the HFEgene. 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 TfR2and HFEgenes in a cohort of non-C282Y iron overload patients of mixed ethnic backgrounds. Several sequence variants were identified within theTfR2gene, 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 TfR2mutations are present outside of Italy, accounting for a small proportion of non-C282Y HH. |
| Databáze: |
Supplemental Index |
| Externí odkaz: |
|
