title: Novel mutation in ferroportin 1 gene is associated with autosomal dominant iron overload.
abstract: 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.
authors.affiliation: Laboratoire de Génétique Moléculaire and UMR-CNRS 6061, Hôpital Pontchaillou, CHU de Rennes, Rennes, France.
authors.forename: Anne-Marie
authors.initials: AM
authors.lastname: Jouanolle
authors.forename: Véronique
authors.initials: V
authors.lastname: Douabin-Gicquel
authors.forename: Chantal
authors.initials: C
authors.lastname: Halimi
authors.forename: Olivier
authors.initials: O
authors.lastname: Loréal
authors.forename: Patricia
authors.initials: P
authors.lastname: Fergelot
authors.forename: Thierry
authors.initials: T
authors.lastname: Delacour
authors.forename: Anne-Sophie
authors.initials: AS
authors.lastname: de Lajarte-Thirouard
authors.forename: Bruno
authors.initials: B
authors.lastname: Turlin
authors.forename: Jean-Yves
authors.initials: JY
authors.lastname: Le Gall
authors.forename: Estelle
authors.initials: E
authors.lastname: Cadet
authors.forename: Jacques
authors.initials: J
authors.lastname: Rochette
authors.forename: Véronique
authors.initials: V
authors.lastname: David
authors.forename: Pierre
authors.initials: P
authors.lastname: Brissot
mesh_terms: D019943:Amino Acid Substitution; D027682:Cation Transport Proteins / Q000235:genetics*; D005260:Female; D005799:Genes, Dominant; D022781:Hepatocytes / Q000473:pathology; D006801:Humans; D019190:Iron Overload / Q000235:genetics* / Q000473:pathology; D007728:Kupffer Cells / Q000473:pathology; D008875:Middle Aged; D010375:Pedigree; D010641:Phenotype; D017354:Point Mutation; D000098742:Ferroportin
chemical_list: D027682:Cation Transport Proteins; D000098742:Ferroportin