Novel mutation in ferroportin 1 gene is associated with autosomal dominant iron overload
AM Jouanolle, V Douabin-Gicquel, C Halimi… - Journal of …, 2003 - Elsevier
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 …
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 …