The Gene TFR2 is Mutated in a New Type of Haemochromatosis Mapping to 7q22

Overview

Journal Nat Genet

Specialty Genetics

Date 2000 May 10

PMID 10802645

Citations 193

Authors

C Camaschella

A Roetto

A Cali

M De Gobbi

G Garozzo

M Carella

N MAJORANO

A Totaro

P Gasparini

Affiliations

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Abstract

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.

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