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Novel mutation in ferroportin1 is associated with autosomal dominant hemochromatosis.
| Content Provider | Semantic Scholar |
|---|---|
| Author | Wallace, Daniel F. Pedersen, Preben Terndrup Dixon, Jeannette L. Stephenson, Peter Powell, Lawrie William Subramaniam, V. Nathan |
| Copyright Year | 2002 |
| 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. |
| File Format | PDF HTM / HTML |
| Alternate Webpage(s) | http://www.bloodjournal.org/content/bloodjournal/100/2/692.full.pdf?sso-checked=true |
| PubMed reference number | 12091366v1 |
| Volume Number | 100 |
| Issue Number | 2 |
| Journal | Blood |
| Language | English |
| Access Restriction | Open |
| Subject Keyword | Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder) Autosomal dominant inheritance Autosomal recessive inheritance Body tissue Carrier Proteins Genes, vif Hemochromatosis Hyper-Immunoglobulin E Syndrome, Autosomal Dominant Iron Overload Mutation TFR2 gene chromosome 1q iron ion homeostasis iron transport |
| Content Type | Text |
| Resource Type | Article |
