Transferrin receptor 2 (TfR2) and HFE mutational analysis in non-C282Y iron overload: identification of a novel TfR2 mutation

• Tipo: Artigo em Revista Científica Internacional
• Data: 2002

Autores

Mattman, A (Autor) Outra; Huntsman, D (Autor) Outra; Lockitch, G (Autor) Outra; Langlois, S (Autor) Outra; Buskard, N (Autor) Outra; Ralston, D (Autor) Outra; Butterfield, Y (Autor) Outra; Rodrigues, P (Autor) ICBAS; Jones, S (Autor) Outra; Porto, G (Autor) ICBAS; Marra, M (Autor) Outra; De Sousa, M (Autor) Outra; Vatcher, G (Autor) Outra

Revista

Título: Blood

Vol. 100

Páginas: 1075-1077

ISSN: 0006-4971

Editora: Elsevier

Indexação

ISI Web of Knowledge - 81 Citações

Scopus - 98 Citações

Classificação Científica

FOS: Ciências médicas e da saúde > Medicina clínica

Outras Informações

ID Authenticus: P-000-NDA

DOI: 10.1182/blood-2002-01-0133

Abstract (EN): Hereditary hemochromatosis (HH) is classically associated with a Cys282Tyr (C282Y) mutation of the HFE gene. NonC282Y 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 the TfR2 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. (C) 2002 by The American Society of Hematology.

Idioma: Inglês

Tipo (Avaliação Docente): Científica

Nº de páginas: 3