Nat Genet. 2000 May;25(1):14-5.

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

Camaschella C, Roetto A, Calì A, De Gobbi M, Garozzo G, Carella M, Majorano N, Totaro A, Gasparini P.

Source

Dipartimento di Scienze Cliniche e Biologiche, Università di Torino, Azienda Ospedaliera S.Luigi, Orbassano-Torino, Italy.

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.

PMID:: 10802645; [PubMed - indexed for MEDLINE]

Publication Types, MeSH Terms, Substances, Grant Support

Publication Types

Research Support, Non-U.S. Gov't

MeSH Terms

Substances

Grant Support

E.0679/Telethon/Italy

LinkOut - more resources

Full Text Sources

Medical

Supplemental Content

Save items

Related citations in PubMed

New mutations inactivating transferrin receptor 2 in hemochromatosis type 3. [Blood. 2001]
New mutations inactivating transferrin receptor 2 in hemochromatosis type 3.
Roetto A, Totaro A, Piperno A, Piga A, Longo F, Garozzo G, Calì A, De Gobbi M, Gasparini P, Camaschella C. Blood. 2001 May 1; 97(9):2555-60.
Hemochromatosis due to mutations in transferrin receptor 2. [Blood Cells Mol Dis. 2002]
Hemochromatosis due to mutations in transferrin receptor 2.
Roetto A, Daraio F, Alberti F, Porporato P, Calì A, De Gobbi M, Camaschella C. Blood Cells Mol Dis. 2002 Nov-Dec; 29(3):465-70.
Early onset hereditary hemochromatosis resulting from a novel TFR2 gene nonsense mutation (R105X) in two siblings of north French descent. [Br J Haematol. 2004]
Early onset hereditary hemochromatosis resulting from a novel TFR2 gene nonsense mutation (R105X) in two siblings of north French descent.
Le Gac G, Mons F, Jacolot S, Scotet V, Férec C, Frébourg T. Br J Haematol. 2004 Jun; 125(5):674-8.
Review Genetic haemochromatosis: genes and mutations associated with iron loading. [Best Pract Res Clin Haematol. ...]
Review Genetic haemochromatosis: genes and mutations associated with iron loading.
Camaschella C, Roetto A, De Gobbi M. Best Pract Res Clin Haematol. 2002 Jun; 15(2):261-76.
Review Natural history of juvenile haemochromatosis. [Br J Haematol. 2002]
Review Natural history of juvenile haemochromatosis.
De Gobbi M, Roetto A, Piperno A, Mariani R, Alberti F, Papanikolaou G, Politou M, Lockitch G, Girelli D, Fargion S, et al. Br J Haematol. 2002 Jun; 117(4):973-9.

See reviews... See all...

Cited by 65 PubMed Central articles

Non-HFE hemochromatosis. [Rev Bras Hematol Hemoter. 2012]
Non-HFE hemochromatosis.
Santos PC, Dinardo CL, Cançado RD, Schettert IT, Krieger JE, Pereira AC. Rev Bras Hematol Hemoter. 2012; 34(4):311-6.
Molecular diagnostic and pathogenesis of hereditary hemochromatosis. [Int J Mol Sci. 2012]
Molecular diagnostic and pathogenesis of hereditary hemochromatosis.
Santos PC, Krieger JE, Pereira AC. Int J Mol Sci. 2012; 13(2):1497-511. Epub 2012 Feb 1.
Review Targeting the hepcidin-ferroportin axis to develop new treatment strategies for anemia of chronic disease and anemia of inflammation. [Am J Hematol. 2012]
Review Targeting the hepcidin-ferroportin axis to develop new treatment strategies for anemia of chronic disease and anemia of inflammation.
Sun CC, Vaja V, Babitt JL, Lin HY. Am J Hematol. 2012 Apr; 87(4):392-400. Epub 2012 Jan 31.

See all...

Related information

Related Citations
Calculated set of PubMed citations closely related to the selected article(s) retrieved using a word weight algorithm. Related articles are displayed in ranked order from most to least relevant, with the “linked from” citation displayed first.
ClinVar
Clinical variations associated with publication
Gene
Gene records that cite the current articles. Citations in Gene are added manually by NCBI or imported from outside public resources.
Gene (OMIM)
Gene records associated with Online Mendelian Inheritance in Man (OMIM) records that cite the current articles in their reference lists.
HomoloGene
HomoloGene clusters of homologous genes and sequences that cite the current articles. These are references on the Gene and sequence records in the HomoloGene entry.
MedGen
Related information in MedGen
MedGen (Bookshelf cited)
Related records in MedGen based on citations in GeneReviews and Medical Genetics Summaries
MedGen (OMIM)
Related information in MedGen (OMIM)
Nucleotide
Primary database (GenBank) nucleotide records reported in the current articles as well as Reference Sequences (RefSeqs) that include the articles as references.
Nucleotide (RefSeq)
NCBI nucleotide Reference Sequences (RefSeqs) that are cited in the current articles, included in the corresponding Gene Reference into Function, or that include the PubMed articles as references.
Nucleotide (Weighted)
Nucleotide records associated with the current articles through the Gene database. These are the related sequences on the Gene record that are added manually by NCBI.
OMIM (calculated)
Online Mendelian Inheritance in Man (OMIM) records that include the current articles as references in the light bulb links within or in the citations at the end of the OMIM record. The references available through the light bulb link are collected using the PubMed related articles algorithm to identify records with similar terminology to the OMIM record.
OMIM (cited)
Online Mendelian Inheritance in Man (OMIM) records that include the current articles as reference cited at the end of the OMIM record.
Protein (RefSeq)
NCBI protein Reference Sequences (RefSeqs) that are cited in the current articles, included in the corresponding Gene Reference into Function, or that include the PubMed articles as references.
Protein (Weighted)
Protein records associated with the current articles through related Gene database records. These are the related sequences on the Gene record that are added manually by NCBI.
Protein Clusters
Clusters of related proteins from the Protein Clusters database that cite the current articles. Sources of references in Protein Clusters include the associated Gene and Conserved Domain records as well as NCBI added citations.
SNP (Cited)
Nucleotide polymorphism records from dbSNP that have NCBI dbSNP identifiers reported in the PubMed abstract of the current articles.
Taxonomy via GenBank
Taxonomy records associated with the current articles through taxonomic information on related molecular database records (Nucleotide, Protein, Gene, SNP, Structure).
UniGene
UniGene clusters of expressed sequences that are associated with the current articles through references on the clustered sequence records and related Gene records.
Domains
Conserved Domain Database (CDD) records that cite the current articles. Citations are from the CDD source database records (PFAM, SMART).
Protein
Protein translation features of primary database (GenBank) nucleotide records reported in the current articles as well as Reference Sequences (RefSeqs) that include the articles as references.
SNP
Nucleotide polymorphism records from dbSNP that have current articles as submitter-provided references.
GEO Profiles
Gene Expression Omnibus (GEO) Profiles of molecular abundance data. The current articles are references on the Gene record associated with the GEO profile.
Cited in PMC
Full-text articles in the PubMed Central Database that cite the current articles.
Cited in Books
NCBI Bookshelf books that cite the current articles.

Recent activity

Clear Turn Off Turn On

The gene TFR2 is mutated in a new type of haemochromatosis mapping to 7q22.
The gene TFR2 is mutated in a new type of haemochromatosis mapping to 7q22.
Nat Genet. 2000 May ;25(1):14-5.

PubMed

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

PubMed

Result Filters

Display Settings:

Send to: