Novel mutation in ferroportin 1 gene is associated with autosomal dominant iron overload

• Published in: Journal of hepatology Vol. 39; no. 2; pp. 286 - 289
• Main Authors: Jouanolle, Anne-Marie, Douabin-Gicquel, Véronique, Halimi, Chantal, Loréal, Olivier, Fergelot, Patricia, Delacour, Thierry, de Lajarte-Thirouard, Anne-Sophie, Turlin, Bruno, Le Gall, Jean-Yves, Cadet, Estelle, Rochette, Jacques, David, Véronique, Brissot, Pierre
• Format: Journal Article
• Language: English
• Published: Oxford Elsevier B.V 01-08-2003; Elsevier
• Subjects: Amino Acid Substitution; Biological and medical sciences; Cation Transport Proteins - genetics; Dominant transmission; Female; Ferritin; Ferroportin; Gastroenterology. Liver. Pancreas. Abdomen; Genes, Dominant; Hemochromatosis; Hepatocytes - pathology; Humans; Iron overload; Iron Overload - genetics; Iron Overload - pathology; Kupffer cell; Kupffer Cells - pathology; Medical sciences; Metabolic diseases; Metals (hemochromatosis...); Middle Aged; Other metabolic disorders; Pedigree; Phenotype; Point Mutation; SLC11A3 gene; Venesection therapy; Ferroportin; Iron overload; SLC11A3 gene; Kupffer cell; Hemochromatosis; Dominant transmission; Ferritin; Venesection therapy; Therapy; Venesection; Transmission; Metabolic diseases; Iron; Enzymopathy; Treatment; Gene; Overload; Gastroenterology; Mutation
• ISSN: 0168-8278; 1600-0641
• DOI: 10.1016/S0168-8278(03)00148-X

We report a family affected with dominant autosomal iron overload related to a new mutation in ferroportin 1, a transmembrane protein involved in the export of iron from duodenal enterocytes and likely from macrophages. The originality of this family is represented by the nature of the mutation consisting in the replacement of glycine 490 with aspartate. Clinicians should be aware of this novel iron overload entity, which corresponds to a particular phenotypic expression (high serum ferritin values contrasting with relatively low transferring saturation, and important Kupffer cell iron deposition as compared to hepatocytic iron excess) with poor tolerance of venesection therapy and a dominant pattern of inheritance. Given this dominant transmission, the mixed Causasian–Asian origin of our Asian proband leaves open the issue of the ethnic origin of the new mutation.