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Publication Detail
Autosomal dominant reticuloendothelial iron overload associated with a 3-base pair deletion in the ferroportin 1 gene (SLC11A3)
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Publication Type:Journal article
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Publication Sub Type:Article
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Authors:Devalia V, Carter K, Walker AP, Perkins SJ, Worwood M, May A, Dooley JS
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Publication date:15/07/2002
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Pagination:695, 697
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Journal:BLOOD
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Volume:100
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Issue:2
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Print ISSN:0006-4971
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Keywords:adult, Amino Acid Sequence, As, autosomal dominant, AUTOSOMAL-DOMINANT, Biopsy, Blood, bodies, body, case report, Cation Transport Proteins, cell, CELLS, chemistry, clinical, Clinical Feature, CLINICAL FEATURES, CLINICAL-FEATURES, CLUSTER, Concentration, Consensus, control, DEFECT, DELETION, DEPOSITION, Disruption, DOMINANT, DOMINANT INHERITANCE, Exon, families, family, Family Health, FEATURES, Female, Ferritin, Fibrosis, GENE, Genes, Dominant, genetics, Hemochromatosis, IM, INDICATE, individuals, INHERITANCE, Iron, Iron Overload, iron transport, Kupffer Cell, Kupffer Cells, LA, liver, Liver Biopsy, LOOP, MEMBERS, metabolism, Molecular Sequence Data, Mutation, MUTATIONS, Other, OVERLOAD, pathology, predicting, PREDICTION, PREDICTIONS, PROTEIN, Protein Structure, Tertiary, Proteins, release, Result, Reticuloendothelial System, saturation, Sequence Deletion, SERA, serum, SERUM FERRITIN, SLC11A3, STATE, STATES, structural, Support, Non-U.S.Gov't, THERAPIES, therapy, Transferrin, transferrin saturation, transport, united, United Kingdom, United States, UNITED-STATES, venesection
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Notes:UI - 22085844 DA - 20020701 IS - 0006-4971 LA - eng PT - Journal Article RN - 0 (Cation Transport Proteins) RN - 0 (ferroportin1 protein) RN - 9007-73-2 (Ferritin) SB - AIM SB - IM
Abstract
We describe a family with autosomal dominant inheritance of increased body iron stores characterized by raised serum ferritin concentration and normal transferrin saturation. Liver biopsy showed iron deposition in Kupffer cells without fibrosis. The clinical features of HFE-related hemochromatosis were absent, as were the Cys282Tyr and His63Asp mutations. Venesection therapy was poorly tolerated, suggesting a defect in iron release from reticuloendothelial stores. A 3-base pair deletion in exon 5 of the ferroportin 1 gene (SLC11A3) predicting Val162 deletion was found in affected members, but not in unaffected individuals or in 100 control subjects. Consensus structural predictions of the transmembrane helices showed that the deletion is in the extracellular loop between the third and fourth predicted transmembrane helices and lies within a spatial cluster of other known ferroportin 1 mutations. These results indicate that this extracellular cluster is functionally important for iron transport, and its disruption leads to iron overload
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