title: Novel mutation in ferroportin1 is associated with autosomal dominant hemochromatosis.
abstract: Hemochromatosis is a common disorder characterized by excess iron absorption and accumulation of iron in tissues. Usually hemochromatosis is inherited in an autosomal recessive pattern and is caused by mutations in the HFE gene. Less common non-HFE-related forms of hemochromatosis have been reported and are caused by mutations in the transferrin receptor 2 gene and in a gene localized to chromosome 1q. Autosomal dominant forms of hemochromatosis have also been described. Recently, 2 mutations in the ferroportin1 gene, which encodes the iron transport protein ferroportin1, have been implicated in families with autosomal dominant hemochromatosis from the Netherlands and Italy. We report the finding of a novel mutation (V162del) in ferroportin1 in an Australian family with autosomal dominant hemochromatosis. We propose that this mutation disrupts the function of the ferroportin1 protein, leading to impaired iron homeostasis and iron overload.
authors.affiliation: Queensland Institute of Medical Research, the Digestive Health Clinics, and the Department of Pathology, Royal Brisbane Hospital, Brisbane, Australia.
authors.forename: Daniel F
authors.initials: DF
authors.lastname: Wallace
authors.forename: Palle
authors.initials: P
authors.lastname: Pedersen
authors.forename: Jeannette L
authors.initials: JL
authors.lastname: Dixon
authors.forename: Peter
authors.initials: P
authors.lastname: Stephenson
authors.forename: Jeffrey W
authors.initials: JW
authors.lastname: Searle
authors.forename: Lawrie W
authors.initials: LW
authors.lastname: Powell
authors.forename: V Nathan
authors.initials: VN
authors.lastname: Subramaniam
mesh_terms: D000328:Adult; D000368:Aged; D001315:Australia; D027682:Cation Transport Proteins / Q000235:genetics*; D004252:DNA Mutational Analysis; D005192:Family Health; D005260:Female; D005799:Genes, Dominant; D006432:Hemochromatosis / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D006801:Humans; D019190:Iron Overload / Q000209:etiology / Q000235:genetics / Q000473:pathology; D008099:Liver / Q000473:pathology; D008297:Male; D008875:Middle Aged; D010641:Phenotype; D017384:Sequence Deletion; D000098742:Ferroportin
chemical_list: D027682:Cation Transport Proteins; D000098742:Ferroportin