Novel mutation in ferroponin1 is associated with autosomal dominant hemochromatosis

Wallace, Daniel F., Pedersen, Palle, Dixon, Jeannette L., Stephenson, Peter, Searle, Jeffrey W., Powell, Lawrie W. and Subramaniam, V. Nathan (2002) Novel mutation in ferroponin1 is associated with autosomal dominant hemochromatosis. Blood, 100 2: 692-694. doi:10.1182/blood.V100.2.692


Author Wallace, Daniel F.
Pedersen, Palle
Dixon, Jeannette L.
Stephenson, Peter
Searle, Jeffrey W.
Powell, Lawrie W.
Subramaniam, V. Nathan
Title Novel mutation in ferroponin1 is associated with autosomal dominant hemochromatosis
Formatted title
Novel mutation in ferroponin1 is associated with autosomal dominant hemochromatosis
Journal name Blood   Check publisher's open access policy
ISSN 0006-4971
1528-0020
Publication date 2002-07-15
Sub-type Article (original research)
DOI 10.1182/blood.V100.2.692
Volume 100
Issue 2
Start page 692
End page 694
Total pages 3
Place of publication Washington, DC, United States
Publisher American Society of Hematology
Language eng
Formatted abstract
Hemochromatosis is a common disorder characterized by excess iron absorption and accumulation of iron in tissues. Usually hemochromatosis is inherited in an autosomal recessive pattern and is caused by mutations in the HFE gene. Less common non-HFE–related forms of hemochromatosis have been reported and are caused by mutations in the transferrin receptor 2 gene and in a gene localized to chromosome 1q. Autosomal dominant forms of hemochromatosis have also been described. Recently, 2 mutations in the ferroportin1 gene, which encodes the iron transport protein ferroportin1, have been implicated in families with autosomal dominant hemochromatosis from the Netherlands and Italy. We report the finding of a novel mutation (V162del) in ferroportin1 in an Australian family with autosomal dominant hemochromatosis. We propose that this mutation disrupts the function of the ferroportin1 protein, leading to impaired iron homeostasis and iron overload.
Q-Index Code C1
Q-Index Status Provisional Code
Institutional Status Unknown

Document type: Journal Article
Sub-type: Article (original research)
Collection: School of Medicine Publications
 
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Created: Thu, 25 Nov 2010, 10:32:23 EST