Abstract
We report three mutations of transferrin receptor 2 (TFR2)--R396X (exon 9; nt 1186C-->T), R455Q (exon 10; nt 1364G-->A) and G792R (exon 18; nt 2374G-->A)--in a man of Scottish descent with hemochromatosis and severe iron overload. He was also heterozygous for the common HFE H63D polymorphism. The patient did not have coding region mutations in HAMP, FPN1, HJV or ALAS2. We conclude that this patient represents another example of hemochromatosis due to mutations of the gene encoding transferrin receptor 2.
Copyright 2006 S. Karger AG, Basel.
Publication types
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Case Reports
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Research Support, N.I.H., Extramural
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Research Support, Non-U.S. Gov't
MeSH terms
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Amino Acid Substitution*
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Exons / genetics*
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Hemochromatosis / genetics*
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Hemochromatosis Protein
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Heterozygote
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Histocompatibility Antigens Class I / genetics
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Humans
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Male
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Membrane Proteins / genetics
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Middle Aged
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Point Mutation*
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Polymorphism, Single Nucleotide
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Receptors, Transferrin / genetics*
Substances
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HFE protein, human
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Hemochromatosis Protein
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Histocompatibility Antigens Class I
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Membrane Proteins
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Receptors, Transferrin
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TFR2 protein, human