A novel ferroportin mutation in a Canadian family with autosomal dominant hemochromatosis.
We report a new mutation, Asn185Asp, in exon 6 of the ferroportin gene (FPN1) in 15 members of three successive generations of a Canadian family of Scandinavian origin with autosomal dominant hemochromatosis. Hyperferritinemia with low transferrin saturation was noted in younger family members, seven of whom were aged 20 years or less at the time of diagnosis. In those individuals first diagnosed with hemochromatosis in later life, marked hyperferritinemia was accompanied by high transferrin saturation. In contrast to the phenotype of high ferritin with low saturation first reported for ferroportin disease, this family demonstrates a phenotype of iron indices that varies with age.
Morris
Tara J
TJ
Department of Pathology and Laboratory Medicine, Children's and Women's Health Centre of British Columbia, 4480 Oak Street, Vancouver, Canada BC V6H3V4.
Litvinova
Mariya M
MM
Ralston
Diana
D
Mattman
Andre
A
Holmes
Daniel
D
Lockitch
Gillian
G
D000293:Adolescent; D000328:Adult; D000368:Aged; D002170:Canada; D027682:Cation Transport Proteins / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D018450:Disease Progression; D005091:Exons; D005192:Family Health; D005260:Female; D005799:Genes, Dominant; D006432:Hemochromatosis / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D019190:Iron Overload / Q000175:diagnosis / Q000209:etiology / Q000235:genetics; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense; D010375:Pedigree; D010641:Phenotype; D020133:Reverse Transcriptase Polymerase Chain Reaction; D000098742:Ferroportin
D027682:Cation Transport Proteins; D000098742:Ferroportin