The gene TFR2 is mutated in a new type of haemochromatosis mapping to 7q22

• Published in: Nature genetics Vol. 25; no. 1; pp. 14 - 15
• Main Authors: Gasparini, Paolo, Camaschella, Clara, Roetto, Antonella, Calì, Angelita, De Gobbi, Marco, Garozzo, Giovanni, Carella, Massimo, Majorano, Nunzia, Totaro, Angela
• Format: Journal Article
• Language: English
• Published: London Nature Publishing Group 01-05-2000
• Subjects: Animals; Arthritis; Biological and medical sciences; chromosome 1; chromosome 7; Chromosome Mapping; Chromosomes, Human, Pair 7 - genetics; Codon, Nonsense - genetics; Female; Gene mutations; Genetic aspects; Genetics; Haplotypes; Hemochromatosis; Hemochromatosis - genetics; HFE gene; HFE2 gene; Humans; Iron; Liver cirrhosis; Male; Medical sciences; Metabolic diseases; Metabolism; Metals (hemochromatosis...); Mice; Mutation; Mutation - genetics; Other metabolic disorders; Patients; Pedigree; Proteins; Receptors, Transferrin - genetics; TFR2 gene; transferrin receptors; Genetic mapping; Human; Transferrin; Hemochromatosis; Nucleotide sequence; Family study; Metabolic diseases; Iron; Chromosome C7; Enzymopathy; Genetic disease; Gene; Pigments; Genetics; Mutation
• ISSN: 1061-4036; 1546-1718
• DOI: 10.1038/75534

Haemochromatosis is a common recessive disorder characterized by progressive iron overload, which may lead to severe clinical complications. Most patients are homozygous for the C282Y mutation in HFE on 6p (refs 1-5). A locus for juvenile haemochromatosis (HFE2) maps to 1q (ref. 7). Here we report a new locus (HFE3) on 7q22 and show that a homozygous nonsense mutation in the gene encoding transferrin receptor-2 (TFR2) is found in people with haemochromatosis that maps to HFE3.