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A mutation in SLC11A3 is associated with autosomal dominant hemochromatosis

Nature Genetics volume 28, pages 213–214 (2001)Cite this article

Abstract

Hereditary hemochromatosis (HH) is a very common disorder characterized by iron overload and multi-organ damage. Several genes involved in iron metabolism have been implicated in the pathology of HH (refs. 1–4). We report that a mutation in the gene encoding Solute Carrier family 11, member A3 (SLC11A3), also known as ferroportin, is associated with autosomal dominant hemochromatosis.

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Figure 1: a, Pedigree of Dutch autosomal dominant hemochromatosis family with haplotypes for chromosome 2q markers (ordered from centromere to telomere).
Figure 2: Sequence alignment of region around the mutant residue in SLC11A3 (human) and other proteins.

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Acknowledgements

We thank the patients and relatives from the Genetic Research in Isolated Populations, the local healthcare centers and the municipality for making this study possible, J. Janssens and local physicians T.W.C. Snieders, G. Droge, P. van Wouw, M. Kraanen, C. Van Broeckoven, W.H.A. Bettink, C.J.M. Beukers and L.J. Dronkers for their help during the study, and E. Wauters and J. Houwing-Duistermaat for technical assistance.

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Authors and Affiliations

  1. Genetic-Epidemiology Unit: Department of Epidemiology & Biostatistics and Department of Clinical Genetics, Erasmus University Rotterdam, The Netherlands

    Omer T. Njajou, Norbert Vaessen, Marijke Joosse, Bianca Berghuis, Jeroen W.F. van Dongen, Pieter J.L.M. Snijders, Lodewijk A. Sandkuijl, Ben A. Oostra, Cornelia M. van Duijn & Peter Heutink

  2. Department of Anthropogenetics Leiden University Medical Center, The Netherlands

    Martijn H. Breuning

  3. Stichting Huisarts Laboratorium Breda, The Netherlands

    Wim P.F. Rutten

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  1. Omer T. Njajou
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  2. Norbert Vaessen
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Njajou, O., Vaessen, N., Joosse, M. et al. A mutation in SLC11A3 is associated with autosomal dominant hemochromatosis. Nat Genet 28, 213–214 (2001). https://doi.org/10.1038/90038

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