New TFR2 mutations in young Italian patients with hemochromatosis.
This work describes the identification of two subjects with young-age iron overload carrying new causative mutations in transferrin receptor-2 gene. One was compound heterozygous (Asn411del/Ala444Thr) and the second was homozygous for a mutation affecting RNA splicing (IVS17+5636G>A). Another mutation (His33Asn) and a polymorphism were found in a group of 50 controls.
Biasiotto
Giorgio
G
Camaschella
Clara
C
Forni
Gian Luca
GL
Polotti
Anna
A
Zecchina
Gabriella
G
Arosio
Paolo
P
D000293:Adolescent; D000328:Adult; D002648:Child; D005260:Female; D006432:Hemochromatosis / Q000235:genetics*; D006801:Humans; D007558:Italy; D008297:Male; D009154:Mutation; D011110:Polymorphism, Genetic; D012326:RNA Splicing / Q000235:genetics*; D011990:Receptors, Transferrin / Q000235:genetics*
D011990:Receptors, Transferrin; C503640:TFR2 protein, human