Novel mutation in ferroportin 1 gene is associated with autosomal dominant iron overload.
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.
Jouanolle
Anne-Marie
AM
Laboratoire de Génétique Moléculaire and UMR-CNRS 6061, Hôpital Pontchaillou, CHU de Rennes, Rennes, France.
Douabin-Gicquel
Véronique
V
Halimi
Chantal
C
Loréal
Olivier
O
Fergelot
Patricia
P
Delacour
Thierry
T
de Lajarte-Thirouard
Anne-Sophie
AS
Turlin
Bruno
B
Le Gall
Jean-Yves
JY
Cadet
Estelle
E
Rochette
Jacques
J
David
Véronique
V
Brissot
Pierre
P
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
D027682:Cation Transport Proteins; D000098742:Ferroportin